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
SLC39A10	57181	broad.mit.edu	37	2	196581390	196581390	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:196581390C>T	uc002utg.4	+	6	1940	c.1726C>T	c.(1726-1728)Cga>Tga	p.R576*	SLC39A10_uc002uth.4_Nonsense_Mutation_p.R576*|SLC39A10_uc010zgp.2_Nonsense_Mutation_p.R126*	NM_001127257	NP_065075	Q9ULF5	S39AA_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 10 (SLC39A10), transcript variant 1, mRNA.	576					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TTCTGAAGATCGACTTAATGA	0.328000														42			15		0	0	0.006122	0	0
UBA6	55236	broad.mit.edu	37	4	68547871	68547871	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:68547871G>A	uc003hdg.4	-	2	247	c.195C>T	c.(193-195)ttC>ttT	p.F65F	UBA6_uc003hdi.3_Silent_p.F65F|UBA6_uc003hdj.2_Silent_p.F65F	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 6 (UBA6), mRNA.	65					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TCCCACTTAAGAAAACATGGG	0.348000														44			16		0	0	0.007413	0	0
UTS2D	257313	broad.mit.edu	37	3	190994611	190994611	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:190994611C>T	uc003fsu.3	-	6	1012	c.225G>A	c.(223-225)ctG>ctA	p.L75L		NM_198152	NP_937795	Q765I0	UTS2B_HUMAN	Homo sapiens urotensin 2 domain containing (UTS2D), mRNA.	75						extracellular region	hormone activity			lung(5)|skin(1)|stomach(2)	8	all_cancers(143;1.77e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000214)		TAAGTTCTTCCAGTTTGTTAG	0.294000														24			18		0	0	0.010504	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744059	70744059	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:70744059G>A	uc003xyl.3	-	1	1557	c.850C>T	c.(850-852)Ctg>Ttg	p.L284L	SLCO5A1_uc010lzb.3_Silent_p.L284L|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Silent_p.L284L|SLCO5A1_uc010lzc.2_Silent_p.L284L	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	284						integral to membrane|plasma membrane	transporter activity	p.T283N(1)|p.L284R(1)		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)			GTTGGTCCCAGGGTATAAATA	0.448000														54			21		0	0	0.008871	0	0
SLC35F4	341880	broad.mit.edu	37	14	58056038	58056038	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:58056038G>A	uc021rtp.1	-	2	529	c.480C>T	c.(478-480)ttC>ttT	p.F160F	SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_Silent_p.F38F	NM_001206920	NP_001193849			Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA.											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACCAAGTCATGAAAAATGGGC	0.358000														45			24		0	0	0.002780	0	0
RASL10A	10633	broad.mit.edu	37	22	29709932	29709932	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:29709932G>A	uc003aff.3	-	1	777	c.264C>T	c.(262-264)gcC>gcT	p.A88A	RASL10A_uc003afg.3_Silent_p.A88A	NM_006477	NP_006468	Q92737	RSLAA_HUMAN	Homo sapiens RAS-like, family 10, member A (RASL10A), transcript variant 1, mRNA.	88	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)	1						CGAGCACGAAGGCGTCCGTGT	0.637000														35			22		0	0	0.001882	0	0
SEC13	6396	broad.mit.edu	37	3	10357052	10357052	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:10357052G>A	uc003bvn.3	-	2	239	c.117C>T	c.(115-117)atC>atT	p.I39I	SEC13_uc003bvl.3_5'Flank|SEC13_uc003bvm.3_Silent_p.I25I|SEC13_uc003bvp.3_Silent_p.I42I|SEC13_uc003bvo.3_Silent_p.I85I|SEC13_uc003bvr.1_Silent_p.I25I|SEC13_uc011aul.2_Silent_p.I39I	NM_183352	NP_001129704	P55735	SEC13_HUMAN	Homo sapiens SEC13 homolog (S. cerevisiae) (SEC13), transcript variant 1, mRNA.	39					COPII vesicle coating|intracellular protein transport|mRNA transport|mitotic prometaphase|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	ER to Golgi transport vesicle membrane|Nup107-160 complex|cytosol|endoplasmic reticulum membrane	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						GCACATCAAAGATTTTGACGG	0.597000														47			11		0	0	0.001855	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227540	56227540	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:56227540C>T	uc002xyq.3	-	3	826	c.433G>A	c.(433-435)Gac>Aac	p.D145N	PMEPA1_uc002xyr.3_Missense_Mutation_p.D95N|PMEPA1_uc002xys.3_Missense_Mutation_p.D110N|PMEPA1_uc002xyt.3_Missense_Mutation_p.D95N	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	145					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GGTGGCAGGTCGATCTCGTGC	0.711000														22			14		0	0	0.004990	0	0
IL5RA	3568	broad.mit.edu	37	3	3133936	3133936	+	Nonsense_Mutation	SNP	C	T	T	rs17878935		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:3133936C>T	uc011ask.2	-	9	1610	c.966G>A	c.(964-966)tgG>tgA	p.W322*	IL5RA_uc010hbq.3_Intron|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Nonsense_Mutation_p.W322*|IL5RA_uc011asl.2_Nonsense_Mutation_p.W322*|IL5RA_uc011asm.1_Nonsense_Mutation_p.W322*|IL5RA_uc010hbt.2_Nonsense_Mutation_p.W322*|IL5RA_uc011asn.1_Nonsense_Mutation_p.W322*|IL5RA_uc010hbu.2_Nonsense_Mutation_p.W322*|IL5RA_uc010hbp.3_Nonsense_Mutation_p.W33*	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	322					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		TCCACTCACTCCAGAGCCCTG	0.428000														49			27		0	0	0.007291	0	0
HECW1	23072	broad.mit.edu	37	7	43580787	43580787	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:43580787G>A	uc003tid.1	+	24	4650	c.4045G>A	c.(4045-4047)Ggt>Agt	p.G1349S	HECW1_uc011kbi.1_Missense_Mutation_p.G1315S	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1349	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TCGCATCCTGGGTCTGGCTCT	0.448000														73			40		0	0	0.009718	0	0
TMCC2	9911	broad.mit.edu	37	1	205238338	205238338	+	Silent	SNP	C	T	T	rs145697603		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:205238338C>T	uc021pia.1	+	2	1663	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	TMCC2_uc010prf.2_Silent_p.F258F|TMCC2_uc001hca.3_Silent_p.F111F|TMCC2_uc001hcb.2_Silent_p.F96F|TMCC2_uc001hcc.2_5'UTR|TMCC2_uc001hcd.3_Silent_p.F103F	NM_014858	NP_001229854	O75069	TMCC2_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 2 (TMCC2), transcript variant 1, mRNA.	336						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGCAAGTGTTCGAGAAGAAGA	0.567000														19			5		0	0	0.000602	0	0
ZFPM2	23414	broad.mit.edu	37	8	106573624	106573624	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:106573624G>A	uc003ymd.3	+	3	358	c.335G>A	c.(334-336)cGa>cAa	p.R112Q		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	112					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.R112Q(2)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GATGGGGAACGAAAAATTCAG	0.438000														32			21		0	0	0.002299	0	0
OR6K2	81448	broad.mit.edu	37	1	158669785	158669785	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:158669785C>T	uc001fsu.1	-	0	658	c.658G>A	c.(658-660)Gat>Aat	p.D220N		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y219Y(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					ACAATACCATCGTAGGACATG	0.473000														55			34		0	0	0.002096	0	0
CHAF1B	8208	broad.mit.edu	37	21	37785199	37785199	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:37785199T>G	uc002yvj.3	+	11	1217	c.1079T>G	c.(1078-1080)tTc>tGc	p.F360C		NM_005441	NP_005432	Q13112	CAF1B_HUMAN	Homo sapiens chromatin assembly factor 1, subunit B (p60) (CHAF1B), mRNA.	360					DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GATGGTGCCTTCCTGGCCATT	0.443000														68			25		0	0	0.006320	0	0
MUC16	94025	broad.mit.edu	37	19	9003586	9003586	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9003586C>T	uc002mkp.3	-	48	40258	c.40054G>A	c.(40054-40056)Gag>Aag	p.E13352K	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.E169K|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13354	SEA 9.			T -> A (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGACCCTCTCCGTGGTGTTG	0.572000														169			87		0	0	0.003610	0	0
ROS1	6098	broad.mit.edu	37	6	117700224	117700224	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:117700224C>T	uc003pxp.1	-	16	2794	c.2595G>A	c.(2593-2595)caG>caA	p.Q865Q	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	865			Q -> H (in a lung large cell carcinoma sample; somatic mutation).		transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.Q865H(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTACTTACCTCTGTCCCCGAA	0.383000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									39			9		0	0	0.004482	0	0
TRIOBP	11078	broad.mit.edu	37	22	38086704	38086704	+	Splice_Site	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:38086704G>A	uc003atq.1	+	5	438	c.-596_splice	c.e5-1		NOL12_uc011anm.1_Splice_Site_p.G128_splice|NOL12_uc003ato.1_Splice_Site|NOL12_uc003atp.3_Splice_Site_p.G128_splice	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.						actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCCTCTTTAGGGAGGGGCTGG	0.627000														123			54		0	0	0.003610	0	0
JPH4	84502	broad.mit.edu	37	14	24040471	24040471	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:24040471G>A	uc001wkq.2	-	5	2387	c.1469C>T	c.(1468-1470)tCc>tTc	p.S490F	JPH4_uc010tnr.1_Missense_Mutation_p.S155F|JPH4_uc001wkr.2_Missense_Mutation_p.S490F	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	Homo sapiens junctophilin 4 (JPH4), transcript variant 1, mRNA.	490					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TTTGGGGCTGGAGAAGGGACC	0.682000														72			41		0	0	0.006230	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716487	13716487	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:13716487C>T	uc001rbt.2	-	12	3864	c.3685G>A	c.(3685-3687)Gtg>Atg	p.V1229M		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1229					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGACCCGTCACCGTCGTGGAG	0.602000														22			19		0	0	0.008871	0	0
SATB2	23314	broad.mit.edu	37	2	200193547	200193547	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:200193547A>T	uc002uuy.2	-	7	2077	c.1260T>A	c.(1258-1260)aaT>aaA	p.N420K	SATB2_uc010fsq.2_Missense_Mutation_p.N302K|SATB2_uc002uva.2_Missense_Mutation_p.N420K|SATB2_uc002uuz.2_Missense_Mutation_p.N420K	NM_001172509	NP_056080	Q9UPW6	SATB2_HUMAN	Homo sapiens SATB homeobox 2 (SATB2), transcript variant 1, mRNA.	420						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GATTGAGGAAATTCTGCATGG	0.522000														34			26		0	0	0.004656	0	0
SCN2A	6326	broad.mit.edu	37	2	166243496	166243496	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:166243496G>A	uc002udc.3	+	25	5082	c.4792G>A	c.(4792-4794)Gat>Aat	p.D1598N	SCN2A_uc002udd.3_Missense_Mutation_p.D1598N|SCN2A_uc002ude.3_Missense_Mutation_p.D1598N|SCN2A_uc021vry.1_Missense_Mutation_p.D98N	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1598					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GAATATTTTTGATTTTGTGGT	0.338000														67			20		0	0	0.002299	0	0
MYCBP2	23077	broad.mit.edu	37	13	77742742	77742742	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:77742742G>A	uc021rks.1	-	39	6202	c.5935C>T	c.(5935-5937)Ccg>Tcg	p.P1979S	MYCBP2_uc010aev.3_Missense_Mutation_p.P1345S	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	1941					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.T1978A(1)		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)		GCAACTGACGGAAGCAATTGT	0.438000														52			25		0	0	0.004656	0	0
CWC27	10283	broad.mit.edu	37	5	64267545	64267545	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:64267545C>T	uc003jtn.1	+	11	1277	c.1058C>T	c.(1057-1059)cCa>cTa	p.P353L	CWC27_uc010iwt.1_Missense_Mutation_p.P353L	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN	Homo sapiens CWC27 spliceosome-associated protein homolog (S. cerevisiae) (CWC27), mRNA.	353					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						GAAGCCCCTCCAGATGGTGCT	0.403000														61			20		0	0	0.008871	0	0
COL6A3	1293	broad.mit.edu	37	2	238303450	238303450	+	Silent	SNP	C	T	T	rs148970984	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:238303450C>T	uc002vwl.2	-	2	774	c.489G>A	c.(487-489)gcG>gcA	p.A163A	COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Intron|COL6A3_uc002vwr.3_Intron|COL6A3_uc010znk.1_Silent_p.A163A	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	163	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACTTAAGTTCCGCTGAGGGCA	0.498000														42			24		0	0	0.002299	0	0
XKR3	150165	broad.mit.edu	37	22	17265203	17265203	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:17265203T>C	uc002zlv.3	-	3	784	c.686A>G	c.(685-687)aAg>aGg	p.K229R	XKR3_uc011agf.2_Missense_Mutation_p.K229R	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	229						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CGGCGGTAGCTTAATGGTAGT	0.428000														27			8		0	0	0.004482	0	0
XKR6	286046	broad.mit.edu	37	8	10755744	10755744	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:10755744C>T	uc003wtk.1	-	2	1671	c.1644G>A	c.(1642-1644)acG>acA	p.T548T		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	548						integral to membrane		p.V547I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CCTGTTGTTCCGTTACGGCTC	0.627000														52			13		0	0	0.001855	0	0
TNR	7143	broad.mit.edu	37	1	175355175	175355175	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:175355175G>A	uc001gkp.1	-	5	1851	c.1770C>T	c.(1768-1770)ttC>ttT	p.F590F	TNR_uc009wwu.1_Silent_p.F590F	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	590	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TACCTGTTGTGAACTGAGTGG	0.592000														48			35		0	0	0.006999	0	0
PKD1L1	168507	broad.mit.edu	37	7	47917121	47917121	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:47917121G>A	uc003tny.2	-	21	3663	c.3629C>T	c.(3628-3630)aCc>aTc	p.T1210I		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1210	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACTGAAGACGGTGTGTGCTTC	0.572000														69			38		0	0	0.007835	0	0
RGNEF	64283	broad.mit.edu	37	5	73069757	73069757	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:73069757C>T	uc010izf.3	+	4	729	c.553C>T	c.(553-555)Ctc>Ttc	p.L185F	RGNEF_uc011csq.2_Missense_Mutation_p.L185F|RGNEF_uc003kcy.1_Missense_Mutation_p.L185F|RGNEF_uc021yam.1_Missense_Mutation_p.L185F	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	185					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		CTTCTTGTGTCTCCCGGGGGG	0.502000														11			7		0	0	0.004482	0	0
FOCAD	54914	broad.mit.edu	37	9	20862683	20862683	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:20862683C>T	uc003zog.1	+	17	2390	c.2027C>T	c.(2026-2028)tCc>tTc	p.S676F	FOCAD_uc003zoh.1_Missense_Mutation_p.S112F	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	676						integral to membrane	binding	p.S676Y(1)									CTAGTTCCTTCCTTAACGGTC	0.413000														46			26		0	0	0.003330	0	0
TRBV2	28620	broad.mit.edu	37	7	142001050	142001050	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:142001050C>T	uc011kro.1	+	1	187	c.142C>T	c.(142-144)Cac>Tac	p.H48Y	TRBV2_uc022amx.1_Non-coding_Transcript|TRBV2_uc022amy.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CATCTCTAATCACTTATACTT	0.433000														13			18		0	0	0.006122	0	0
PKD1L1	168507	broad.mit.edu	37	7	47884669	47884669	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:47884669G>A	uc003tny.2	-	32	5195	c.5161C>T	c.(5161-5163)Cgc>Tgc	p.R1721C		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1721	GPS.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCCGCGAGGCGATGGTAGCTA	0.463000														37			12		0	0	0.001855	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41018804	41018804	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:41018804C>T	uc003jmj.4	-	25	3152	c.2662G>A	c.(2662-2664)Gaa>Aaa	p.E888K	HEATR7B2_uc003jmi.4_Missense_Mutation_p.E443K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	888							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TTAAACATTTCTTGACAGTCC	0.398000														40			17		0	0	0.004990	0	0
HYDIN	54768	broad.mit.edu	37	16	71025992	71025992	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:71025992C>T	uc002ezr.3	-	23	3917	c.3766G>A	c.(3766-3768)Gat>Aat	p.D1256N		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1256										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCATTTAAATCCATCTCGGGG	0.458000														18			15		0	0	0.002299	0	0
TET2	54790	broad.mit.edu	37	4	106155145	106155146	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:106155145_106155146CC>TT	uc011cez.2	+	2	514_515	c.109_110CC>TT	c.(109-111)cca>TTa	p.P37L	TET2_uc003hxk.3_Missense_Mutation_p.P16L|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.P16L|TET2_uc010ilp.2_Missense_Mutation_p.P16L|TET2_uc021xql.1_Missense_Mutation_p.P16L	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	16					cell cycle|myeloid cell differentiation		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(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CAGACTAAGTCCATTCCTGATA	0.500000			"""Mis N, F"""		MDS									27			8		0	0	0.004672	0	0
RELN	5649	broad.mit.edu	37	7	103126644	103126644	+	Splice_Site	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:103126644C>T	uc022ajr.1	-	61	10143	c.9983_splice	c.e61+1	p.S3328_splice	RELN_uc022ajq.1_Splice_Site_p.S3328_splice|RELN_uc010liz.3_Splice_Site_p.S3328_splice|RN7SK_uc022ajs.1_5'Flank	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3328					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTTTGGGTACCTTGCTCGAGT	0.488000														24			69		0	0	0.003610	0	0
SH2D3A	10045	broad.mit.edu	37	19	6760924	6760924	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:6760924C>T	uc002mft.3	-	2	338	c.144G>A	c.(142-144)gtG>gtA	p.V48V	SH2D3A_uc010xjg.2_Intron	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA.	48	SH2.				JNK cascade|small GTPase mediated signal transduction	intracellular	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGCAGGAGATCACGGGGTTGC	0.642000														31			13		0	0	0.003163	0	0
BNC1	646	broad.mit.edu	37	15	83933168	83933168	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:83933168C>T	uc002bjt.1	-	3	923	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	BNC1_uc010uos.1_Missense_Mutation_p.E267K	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	279					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CCATGGACTTCCTGTTTGGGG	0.478000														46			84		0	0	0.003610	0	0
KIAA0408	9729	broad.mit.edu	37	6	127771437	127771437	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:127771437C>T	uc011ebs.2	-	2	532	c.196G>A	c.(196-198)Gat>Aat	p.D66N	KIAA0408_uc003qbc.3_Missense_Mutation_p.D66N|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qbb.3_5'UTR	NM_014702	NP_055517	Q6ZU52	K0408_HUMAN	Homo sapiens KIAA0408 (KIAA0408), mRNA.	66							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TGGTAAAGATCAATGATCTTA	0.353000														36			16		0	0	0.003163	0	0
FSTL1	11167	broad.mit.edu	37	3	120128466	120128466	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:120128466G>A	uc003eds.3	-	5	550	c.375C>T	c.(373-375)atC>atT	p.I125I	FSTL1_uc011bjh.2_Silent_p.I90I	NM_007085	NP_009016	Q12841	FSTL1_HUMAN	Homo sapiens follistatin-like 1 (FSTL1), mRNA.	125					BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		GCCACTGGATGATGCGACGTC	0.498000														51			24		0	0	0.003954	0	0
KIAA0564	23078	broad.mit.edu	37	13	42404772	42404772	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:42404772G>A	uc001uyj.3	-	13	1663	c.1593C>T	c.(1591-1593)atC>atT	p.I531I	KIAA0564_uc001uyk.3_Silent_p.I531I	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	531						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		CTCGATCATGGATTAACCTAA	0.398000														50			23		0	0	0.002780	0	0
CYP26B1	56603	broad.mit.edu	37	2	72361998	72361998	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:72361998G>A	uc002sih.1	-	3	753	c.753C>T	c.(751-753)atC>atT	p.I251I	CYP26B1_uc010yra.1_Silent_p.I234I|CYP26B1_uc010yrb.1_Silent_p.I176I	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily B, polypeptide 1 (CYP26B1), mRNA.	251					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GCTTCTCCCGGATGGCCTTCT	0.607000														37			16		0	0	0.007413	0	0
UGT2B10	7365	broad.mit.edu	37	4	69682275	69682275	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:69682275G>A	uc003hee.3	+	0	563	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	UGT2B10_uc011cam.2_Intron	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	180					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CTACTCATTTGAAAGGCACAG	0.408000														62			33		0	0	0.003755	0	0
APBB3	10307	broad.mit.edu	37	5	139941205	139941205	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:139941205G>A	uc021yeh.1	-	7	1073	c.714C>T	c.(712-714)gcC>gcT	p.A238A	APBB3_uc003lgb.1_Silent_p.A15A|APBB3_uc003lgc.1_Silent_p.A15A|APBB3_uc003lgd.1_Silent_p.A243A|APBB3_uc010jfp.1_Non-coding_Transcript|APBB3_uc011czi.1_Silent_p.A15A|APBB3_uc003lge.1_Silent_p.A236A|APBB3_uc021yeg.1_Silent_p.A245A|APBB3_uc003lgf.1_Non-coding_Transcript|APBB3_uc010jfq.1_Silent_p.A15A	NM_133173	NP_573419	O95704	APBB3_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 3 (APBB3), transcript variant 2, mRNA.	238	PID 1.					actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGGCAATGGCCTTGGCAG	0.547000														102			32		0	0	0.009535	0	0
HAUS1	115106	broad.mit.edu	37	18	43705713	43705713	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:43705713C>T	uc002lbu.3	+	7	822	c.742C>T	c.(742-744)Ccg>Tcg	p.P248S	HAUS1_uc002lbv.3_Missense_Mutation_p.P172S	NM_138443	NP_612452	Q96CS2	HAUS1_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 1 (HAUS1), transcript variant 1, mRNA.	248					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						TTTAAAGAATCCGTCTCTTGC	0.294000														10			8		0	0	0.004482	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73302669	73302669	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:73302669G>A	uc002siu.4	-	4	2183	c.1942C>T	c.(1942-1944)Ccc>Tcc	p.P648S	RAB11FIP5_uc002sis.4_Silent_p.S26S|RAB11FIP5_uc002sit.4_Missense_Mutation_p.P570S	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	648	FIP-RBD.				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GGGCCCGGGGGGATCTGCAGC	0.637000														55			16		0	0	0.001882	0	0
SCEL	8796	broad.mit.edu	37	13	78178501	78178501	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:78178501C>T	uc001vki.3	+	18	1278	c.1108C>T	c.(1108-1110)Ctt>Ttt	p.L370F	SCEL_uc010thx.2_Intron|SCEL_uc001vkj.3_Missense_Mutation_p.L350F	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	370	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AAAAAAAGACCTTGATGGGCT	0.323000														73			31		0	0	0.002096	0	0
FBXO40	51725	broad.mit.edu	37	3	121340805	121340805	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:121340805G>A	uc003eeg.2	+	2	739	c.529G>A	c.(529-531)Gat>Aat	p.D177N		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	177					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GGGTGGAGTGGATATCGGTTT	0.498000														39			13		0	0	0.001855	0	0
HECW1	23072	broad.mit.edu	37	7	43483832	43483832	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:43483832C>T	uc003tid.1	+	10	1666	c.1061C>T	c.(1060-1062)tCc>tTc	p.S354F	HECW1_uc011kbi.1_Missense_Mutation_p.S354F	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	354					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.S354S(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GAGGAGATTTCCCTGAGTACC	0.507000														46			19		0	0	0.001882	0	0
TIGD3	220359	broad.mit.edu	37	11	65123717	65123718	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:65123717_65123718CC>TT	uc021qlj.1	+	0	438_439	c.438_439CC>TT	c.(436-441)ccccct>ccTTct	p.P147S	TIGD3_uc001odo.4_Missense_Mutation_p.P147S	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	Homo sapiens tigger transposable element derived 3 (TIGD3), mRNA.	147					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CTTCATTCCCCCCTGAGCCACC	0.614000														78			35		0	0	0.004672	0	0
IL32	9235	broad.mit.edu	37	16	3119352	3119352	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:3119352A>T	uc002ctq.3	+	5	796	c.701A>T	c.(700-702)aAa>aTa	p.K234I	IL32_uc002ctn.3_Missense_Mutation_p.K188I|IL32_uc002ctk.3_Missense_Mutation_p.K131I|IL32_uc002cto.3_Missense_Mutation_p.K234I|IL32_uc010uwp.2_Missense_Mutation_p.K168I|IL32_uc010btb.3_Missense_Mutation_p.K178I|IL32_uc002ctl.3_Missense_Mutation_p.K188I|IL32_uc002ctm.3_Missense_Mutation_p.K188I|IL32_uc002ctp.3_Missense_Mutation_p.K168I|IL32_uc002ctr.3_Missense_Mutation_p.K168I|IL32_uc002ctt.3_Missense_Mutation_p.K188I|IL32_uc010uwr.2_Missense_Mutation_p.K148I|IL32_uc002ctu.3_Missense_Mutation_p.K179I|IL32_uc021tbc.1_Non-coding_Transcript	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	234					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CAATCCTCAAAATGAAGATAC	0.612000														94			44		0	0	0.003214	0	0
LEPREL4	10609	broad.mit.edu	37	17	39959569	39959569	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:39959569G>A	uc002hxu.3	-	7	1728	c.1534C>T	c.(1534-1536)Ccg>Tcg	p.P512S	LEPREL4_uc002hxt.3_Missense_Mutation_p.P421S	NM_006455	NP_006446	Q92791	SC65_HUMAN	Homo sapiens leprecan-like 4 (LEPREL4), mRNA.	421					synaptonemal complex assembly	nucleolus|synaptonemal complex	binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TTGGCATCCGGCTCCTGCCAC	0.632000														36			12		0	0	0.003163	0	0
CTDNEP1	23399	broad.mit.edu	37	17	7150120	7150120	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:7150120A>C	uc002gfd.2	-	3	730	c.350T>G	c.(349-351)tTc>tGc	p.F117C	CTDNEP1_uc002gfe.2_Missense_Mutation_p.F117C	NM_001143775	NP_056158	O95476	CNEP1_HUMAN	Homo sapiens CTD nuclear envelope phosphatase 1 (CTDNEP1), transcript variant 2, mRNA.	117	FCP1 homology.				nuclear envelope organization|protein dephosphorylation	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein serine/threonine phosphatase activity			central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						CACTTCCAGGAAGAAATCCAC	0.483000														189			55		0	0	0.003610	0	0
EPB41L2	2037	broad.mit.edu	37	6	131201289	131201289	+	Silent	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:131201289A>G	uc003qch.2	-	12	2073	c.1891T>C	c.(1891-1893)Ttg>Ctg	p.L631L	EPB41L2_uc003qce.1_Intron|EPB41L2_uc003qcf.1_Non-coding_Transcript|EPB41L2_uc010kfl.2_Intron|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc003qci.3_Intron|EPB41L2_uc011eby.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcj.1_5'Flank	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	631	Spectrin--actin-binding.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CAAACCTCCAACATTAAATTG	0.428000														27			8		0	0	0.004482	0	0
CWC22	57703	broad.mit.edu	37	2	180810045	180810045	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:180810045G>A	uc010frh.1	-	19	2838	c.2538C>T	c.(2536-2538)ttC>ttT	p.F846F	CWC22_uc002uno.2_Silent_p.F368F|CWC22_uc002unp.2_Silent_p.F846F	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	Homo sapiens CWC22 spliceosome-associated protein homolog (S. cerevisiae) (CWC22), mRNA.	846						catalytic step 2 spliceosome	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						CTTTTCTTCTGAAATTTTCAC	0.363000														76			37		0	0	0.003755	0	0
SERINC5	256987	broad.mit.edu	37	5	79441966	79441966	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:79441966G>A	uc011ctj.2	-	10	1342	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	SERINC5_uc003kgj.3_Silent_p.F395F|SERINC5_uc003kgm.3_Silent_p.F395F|SERINC5_uc003kgk.3_Silent_p.F393F|SERINC5_uc003kgl.3_Non-coding_Transcript	NM_001174072	NP_001167543	Q86VE9	SERC5_HUMAN	Homo sapiens serine incorporator 5 (SERINC5), transcript variant 1, mRNA.	395					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GGAAGAACACGAAGTGGAAGT	0.488000														109			51		0	0	0.003610	0	0
OR11H6	122748	broad.mit.edu	37	14	20692283	20692283	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:20692283G>A	uc010tlc.2	+	0	415	c.415G>A	c.(415-417)Gat>Aat	p.D139N		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TATGGCTTATGATCGGTACCT	0.423000														93			28		0	0	0.009535	0	0
FMOD	2331	broad.mit.edu	37	1	203317141	203317141	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:203317141G>A	uc001gzr.3	-	1	394	c.258C>T	c.(256-258)ttC>ttT	p.F86F		NM_002023	NP_002014	Q06828	FMOD_HUMAN	Homo sapiens fibromodulin (FMOD), mRNA.	86	Cys-rich.|LRRNT.				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TGGCCGTGGGGAAGTTGGGTG	0.592000														7			5		0	0	0.001168	0	0
CREB3L4	148327	broad.mit.edu	37	1	153945887	153945887	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:153945887A>G	uc001fdm.1	+	7	1112	c.844A>G	c.(844-846)Acg>Gcg	p.T282A	CREB3L4_uc001fdn.3_Missense_Mutation_p.T282A|CREB3L4_uc010pef.1_Missense_Mutation_p.T135A|CREB3L4_uc001fdo.3_Missense_Mutation_p.T262A|CREB3L4_uc001fdr.2_Missense_Mutation_p.T282A|CREB3L4_uc001fdq.2_Missense_Mutation_p.T262A	NM_130898	NP_570968	Q8TEY5	CR3L4_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 4 (CREB3L4), transcript variant 1, mRNA.	282					response to unfolded protein	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCAGCTGCAGACGCTAATTGC	0.517000														40			19		0	0	0.003330	0	0
NRK	203447	broad.mit.edu	37	X	105150410	105150410	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:105150410C>T	uc004emd.3	+	10	1152	c.849C>T	c.(847-849)tcC>tcT	p.S283S	NRK_uc010npc.1_5'UTR	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	283	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTTTTAGGTCCCGTAAGTTCC	0.403000										HNSCC(51;0.14)				2			4		0	0	0.009096	0	0
CPA3	1359	broad.mit.edu	37	3	148600313	148600313	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:148600313C>T	uc003ewm.3	+	7	761	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C		NM_001870	NP_001861	P15088	CBPA3_HUMAN	Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA.	237					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)			GAGAAAAAATCGTTCCAAGAA	0.383000														19			7		0	0	0.001984	0	0
ENDOD1	23052	broad.mit.edu	37	11	94862153	94862153	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:94862153C>T	uc001pfh.3	+	1	1031	c.913C>T	c.(913-915)Ctt>Ttt	p.L305F		NM_015036	NP_055851	O94919	ENDD1_HUMAN	Homo sapiens endonuclease domain containing 1 (ENDOD1), mRNA.	305						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				TTCTAGTCCCCTTTCTAGCAC	0.448000														29			22		0	0	0.002299	0	0
TYR	7299	broad.mit.edu	37	11	89017984	89017985	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:89017984_89017985GT>AA	uc001pcs.3	+	3	1310_1311	c.1228_1229GT>AA	c.(1228-1230)gtt>AAt	p.V410N		NM_000372	NP_000363	P14679	TYRO_HUMAN	Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA.	410					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TCTTCAAGAAGTTTATCCAGAA	0.386000														45			16		0	0	0.004672	0	0
CYP4F3	4051	broad.mit.edu	37	19	15770061	15770061	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:15770061G>A	uc010xok.2	+	12	1479	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	CYP4F3_uc010xol.2_Missense_Mutation_p.E477K|CYP4F3_uc002nbj.3_Missense_Mutation_p.E477K|CYP4F3_uc010xom.2_Missense_Mutation_p.E328K|CYP4F3_uc002nbk.3_Missense_Mutation_p.E477K|CYP4F3_uc010xon.2_Missense_Mutation_p.E187K	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	477					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CGCGATGGCGGAGATGAAGGT	0.677000														22			6		0	0	0.001168	0	0
CYP39A1	51302	broad.mit.edu	37	6	46604199	46604200	+	Missense_Mutation	DNP	TT	GA	GA			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:46604199_46604200TT>GA	uc003oyf.1	-	4	862_863	c.658_659AA>TC	c.(658-660)aag>TCg	p.K220S	CYP39A1_uc011dwa.1_Missense_Mutation_p.K200S|CYP39A1_uc010jzd.1_Missense_Mutation_p.K48S	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN	Homo sapiens cytochrome P450, family 39, subfamily A, polypeptide 1 (CYP39A1), mRNA.	220					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						CAGGAACCACTTTTTGGATTTT	0.312000														29			28		0	0	0.004672	0	0
PEAK1	79834	broad.mit.edu	37	15	77473384	77473384	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:77473384G>A	uc021sqy.1	-	4	1461	c.885C>T	c.(883-885)ccC>ccT	p.P295P	PEAK1_uc002bcn.2_Silent_p.P295P|PEAK1_uc021sqz.1_5'Flank	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	295					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TGTTTCGCAGGGGGATGGTAT	0.443000														123			26		0	0	0.006320	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51631291	51631291	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:51631291C>T	uc010yct.2	+	4	1196	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F	SIGLEC9_uc002pvu.3_Silent_p.F367F	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	367					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GCGTCATCTTCGTTGTGTAAG	0.612000														119			65		0	0	0.003610	0	0
HNRNPU	3192	broad.mit.edu	37	1	245019892	245019892	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:245019892C>T	uc001iaz.1	-	9	1997	c.1779G>A	c.(1777-1779)atG>atA	p.M593I	HNRNPU_uc001iay.1_Missense_Mutation_p.M317I|HNRNPU_uc001iba.1_Missense_Mutation_p.M574I	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) (HNRNPU), transcript variant 1, mRNA.	593					CRD-mediated mRNA stabilization	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|cell surface|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|RNA binding|protein binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CAAACAGGCACATTTTTCTCC	0.373000														33			30		0	0	0.008361	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83371240	83371240	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:83371240C>T	uc004eej.2	-	11	1041	c.1005G>A	c.(1003-1005)tgG>tgA	p.W335*	RPS6KA6_uc011mqt.2_Nonsense_Mutation_p.W335*|RPS6KA6_uc011mqu.2_Nonsense_Mutation_p.W232*	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	335	AGC-kinase C-terminal.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.W335G(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AACTTACATCCCAGTCAATAT	0.254000														11			5		0	0	0.001168	0	0
ABCA12	26154	broad.mit.edu	37	2	215914410	215914410	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:215914410G>A	uc002vew.3	-	5	853	c.633C>T	c.(631-633)tgC>tgT	p.C211C	ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	211					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGTTAGAAAGGCAAAATTTGT	0.378000														29			21		0	0	0.001882	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50455607	50455607	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:50455607C>T	uc010ybh.2	-	8	1787	c.1696G>A	c.(1696-1698)Gga>Aga	p.G566R	SIGLEC11_uc010ybi.2_Missense_Mutation_p.G470R	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	566					cell adhesion	integral to membrane	sugar binding	p.S565P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		ACGCCAGCTCCCAGGGCAGCC	0.657000														65			21		0	0	0.002299	0	0
ZNF560	147741	broad.mit.edu	37	19	9577649	9577650	+	Nonsense_Mutation	DNP	AC	TT	TT			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9577649_9577650AC>TT	uc002mlp.1	-	9	2183_2184	c.1973_1974GT>AA	c.(1972-1974)tgt>tAA	p.C658*	ZNF560_uc010dwr.1_Nonsense_Mutation_p.C552*	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	658					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CACATGCATTACATTTATAGGG	0.381000														64			26		0	0	0.004672	0	0
CXCR2P1	3580	broad.mit.edu	37	2	218925401	218925401	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:218925401C>G	uc002vgx.3	-	0	613	c.320G>C	c.(319-321)gGa>gCa	p.G107A	RUFY4_uc002vgw.3_Intron					Homo sapiens chemokine (C-X-C motif) receptor 2 pseudogene 1 (CXCR2P1), non-coding RNA.																		CCCACATGGTCCAGTGCTTCT	0.552000														48			15		0	0	0.004007	0	0
FRMD5	84978	broad.mit.edu	37	15	44181070	44181070	+	Splice_Site	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:44181070C>T	uc001ztl.3	-	9	906	c.729_splice	c.e9-1	p.W243_splice	FRMD5_uc001ztj.1_Splice_Site|FRMD5_uc001ztk.1_Splice_Site_p.W154_splice|FRMD5_uc001ztm.3_Splice_Site|FRMD5_uc001ztn.3_Splice_Site_p.R9_splice	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	Homo sapiens FERM domain containing 5 (FRMD5), transcript variant 2, mRNA.	243	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		TCACCTCATTCCTAGAAGCAC	0.483000														22			17		0	0	0.006122	0	0
CUX1	1523	broad.mit.edu	37	7	101882719	101882719	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:101882719C>T	uc003uys.4	+	22	3902	c.3775C>T	c.(3775-3777)Cgg>Tgg	p.R1259W	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.R1248W	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	1248					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R1248W(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAAGAAACCCCGGGTGGTGCT	0.637000														15			35		0	0	0.003271	0	0
TRANK1	9881	broad.mit.edu	37	3	36874141	36874141	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:36874141G>A	uc003cgj.3	-	20	7049	c.6801C>T	c.(6799-6801)atC>atT	p.I2267I		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2267					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						ACAGAAAGTGGATGTACTCCT	0.468000														61			25		0	0	0.003954	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185837	127185837	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:127185837C>T	uc004eum.3	-	0	546	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	117						cytoplasm|cytoskeleton		p.E117K(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TCTCGAATTTCCCTAGGATTC	0.488000														52			105		0	0	0.003610	0	0
OR2AG2	338755	broad.mit.edu	37	11	6790090	6790090	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:6790090G>A	uc001meq.1	-	0	99	c.99C>T	c.(97-99)atC>atT	p.I33I		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 2 (OR2AG2), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACATGTATAGGATTGTAAATG	0.537000														47			32		0	0	0.009535	0	0
RFT1	91869	broad.mit.edu	37	3	53138009	53138009	+	Silent	SNP	A	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:53138009A>C	uc003dgj.3	-	9	1116	c.1062T>G	c.(1060-1062)gcT>gcG	p.A354A		NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	Homo sapiens RFT1 homolog (S. cerevisiae) (RFT1), mRNA.	354					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		AGATATCCAGAGCCAGCTGAG	0.512000														46			17		0	0	0.007413	0	0
GON4L	54856	broad.mit.edu	37	1	155721823	155721823	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:155721823G>A	uc001flz.2	-	29	6498	c.6401C>T	c.(6400-6402)gCc>gTc	p.A2134V	GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Non-coding_Transcript|GON4L_uc001fly.1_Missense_Mutation_p.A2133V|GON4L_uc009wrh.1_Missense_Mutation_p.A2133V|GON4L_uc001fma.1_Missense_Mutation_p.A2134V	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	2134					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGCTTCTGCGGCCTTTGGCTG	0.557000														89			21		0	0	0.010504	0	0
MSH4	4438	broad.mit.edu	37	1	76349430	76349430	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:76349430C>T	uc001dhd.2	+	14	2146	c.2031C>T	c.(2029-2031)atC>atT	p.I677I		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	677					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	p.L676F(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						ATTTTTTGATCATAACTGGAC	0.343000								Mismatch excision repair (MMR)						57			20		0	0	0.001882	0	0
DERL2	51009	broad.mit.edu	37	17	5383830	5383831	+	Nonsense_Mutation	DNP	GG	AA	AA	rs148853119	by1000genomes	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:5383830_5383831GG>AA	uc002gcc.1	-	4	412_413	c.399_400CC>TT	c.(397-402)agccga>agTTga	p.R134*		NM_016041	NP_057125	Q9GZP9	DERL2_HUMAN	Homo sapiens Der1-like domain family, member 2 (DERL2), mRNA.	134					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding			large_intestine(3)	3						GGGTTCCTTCGGCTCCACACAT	0.480000														136			28		0	0	0.004672	0	0
CSRP2	1466	broad.mit.edu	37	12	77254062	77254062	+	Splice_Site	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:77254062A>T	uc001syl.1	-	4	494	c.411_splice	c.e4+1	p.K137_splice		NM_001321	NP_001312	Q16527	CSRP2_HUMAN	Homo sapiens cysteine and glycine-rich protein 2 (CSRP2), mRNA.	137	LIM zinc-binding 2.				multicellular organismal development	nucleus	zinc ion binding			kidney(1)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)	8						ATAGCACTTTACCTTTCCAGC	0.418000														22			18		0	0	0.006122	0	0
RASAL3	64926	broad.mit.edu	37	19	15569364	15569364	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:15569364G>A	uc002nbe.2	-	6	851	c.765C>T	c.(763-765)ctC>ctT	p.L255L		NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	255	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GCTCCCCCAGGAGGCTGGGGT	0.632000														20			8		0	0	0.004482	0	0
CNTN2	6900	broad.mit.edu	37	1	205033517	205033517	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:205033517C>T	uc001hbr.3	+	10	1577	c.1308C>T	c.(1306-1308)atC>atT	p.I436I	CNTN2_uc001hbq.1_Silent_p.I327I|CNTN2_uc001hbs.3_Silent_p.I224I	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	436	Ig-like C2-type 5.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGGGAGAGATCCTTATCCCCT	0.622000														148			23		0	0	0.002299	0	0
HPS3	84343	broad.mit.edu	37	3	148884855	148884855	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:148884855C>T	uc003ewu.1	+	14	2764	c.2624C>T	c.(2623-2625)tCc>tTc	p.S875F	CP_uc011bnr.2_Intron|HPS3_uc011bnq.1_Missense_Mutation_p.S710F|HPS3_uc003ewv.1_Non-coding_Transcript	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.	875						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GACATAGCTTCCATTATTCCG	0.403000									Hermansky-Pudlak syndrome					124			42		0	0	0.003214	0	0
SMC6	79677	broad.mit.edu	37	2	17898095	17898095	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:17898095A>G	uc002rco.3	-	13	1555	c.1259T>C	c.(1258-1260)tTt>tCt	p.F420S	SMC6_uc010exo.3_Missense_Mutation_p.F420S|SMC6_uc002rcn.3_Missense_Mutation_p.F420S|SMC6_uc002rcp.1_Missense_Mutation_p.F446S|SMC6_uc002rcq.2_Missense_Mutation_p.F446S|SMC6_uc002rcr.1_Missense_Mutation_p.F420S	NM_001142286	NP_078900	Q96SB8	SMC6_HUMAN	Homo sapiens structural maintenance of chromosomes 6 (SMC6), transcript variant 1, mRNA.	420					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTGATTTTGAAAGGCCTTTAC	0.348000														66			26		0	0	0.003330	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110520326	110520326	+	Splice_Site	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:110520326G>A	uc003yne.3	+	70	11332	c.11228_splice	c.e70-1	p.G3743_splice		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3743					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)			ATGTTTCTAGGAATTATTAGA	0.323000										HNSCC(38;0.096)				36			10		0	0	0.006214	0	0
LRP1B	53353	broad.mit.edu	37	2	141122354	141122354	+	Splice_Site	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:141122354T>C	uc002tvj.1	-	72	11981	c.11009_splice	c.e72-1	p.G3670_splice		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3670					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATTTCCTCCTTTATTTTAAA	0.378000										TSP Lung(27;0.18)				86			35		0	0	0.005524	0	0
SLC35A4	113829	broad.mit.edu	37	5	139947248	139947248	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:139947248G>A	uc003lgg.1	+	2	1222	c.494G>A	c.(493-495)gGg>gAg	p.G165E	SLC35A4_uc003lgh.1_Missense_Mutation_p.G165E|SLC35A4_uc021yei.1_Missense_Mutation_p.G165E	NM_080670	NP_542401	Q96G79	S35A4_HUMAN	Homo sapiens solute carrier family 35, member A4 (SLC35A4), mRNA.	165	Leu-rich.					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGTTCCCGGGAACACCCTT	0.647000														32			16		0	0	0.004007	0	0
CLVS1	157807	broad.mit.edu	37	8	62412056	62412056	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:62412056G>A	uc003xuh.3	+	5	1344	c.1020G>A	c.(1018-1020)gaG>gaA	p.E340E	CLVS1_uc003xui.3_Non-coding_Transcript	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	340					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AACATGAGGAGAAGGGAGAGA	0.507000														45			14		0	0	0.004007	0	0
PSG8	440533	broad.mit.edu	37	19	43259246	43259246	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:43259246G>A	uc002ouo.2	-	3	980	c.882C>T	c.(880-882)atC>atT	p.I294I	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Silent_p.I294I|PSG8_uc010ein.3_Silent_p.I172I|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	294	Ig-like C2-type 2.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GTAGAATGAGGATCCTGTTTT	0.488000														126			44		0	0	0.003610	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178834107	178834107	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:178834107C>T	uc001gma.3	-	2	1281	c.805G>A	c.(805-807)Gta>Ata	p.V269I	RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Missense_Mutation_p.V269I|ANGPTL1_uc010pnc.1_Missense_Mutation_p.V191I	NM_004673	NP_004664	O95841	ANGL1_HUMAN	Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA.	269						extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						ATGAAAGTTACCGGTGGTATC	0.403000														39			25		0	0	0.003330	0	0
RYR2	6262	broad.mit.edu	37	1	237811866	237811866	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:237811866G>A	uc001hyl.1	+	48	7585	c.7465G>A	c.(7465-7467)Gag>Aag	p.E2489K		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2489	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCATCTTCTTGAGGTTGGCTT	0.512000														14			5		0	0	0.001168	0	0
SLC45A1	50651	broad.mit.edu	37	1	8390856	8390856	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:8390856C>T	uc001apb.3	+	3	1303	c.1303C>T	c.(1303-1305)Ctg>Ttg	p.L435L	SLC45A1_uc001apc.3_Silent_p.L133L	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	435					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CGGGGACATTCTGAGGGTGGG	0.662000														44			33		0	0	0.002836	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237111	30237111	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:30237111G>A	uc022buf.1	+	0	414	c.414G>A	c.(412-414)ctG>ctA	p.L138L	MAGEB2_uc004dbz.3_Silent_p.L138L	NM_002364	NP_002355	O15479	MAGB2_HUMAN	Homo sapiens melanoma antigen family B, 2 (MAGEB2), mRNA.	138	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GAGAAATGCTGAAAATTGTTG	0.458000														6			6		0	0	0.001168	0	0
SUV39H2	79723	broad.mit.edu	37	10	14939205	14939205	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:14939205G>A	uc021png.1	+	2	644	c.538G>A	c.(538-540)Gga>Aga	p.G180R	SUV39H2_uc001ing.3_Intron|SUV39H2_uc001inh.3_Missense_Mutation_p.G120R|SUV39H2_uc001ini.3_Missense_Mutation_p.G120R|SUV39H2_uc021pnh.1_Intron|SUV39H2_uc001inj.3_Missense_Mutation_p.G120R	NM_001193424	NP_078946	Q9H5I1	SUV92_HUMAN	Homo sapiens suppressor of variegation 3-9 homolog 2 (Drosophila) (SUV39H2), transcript variant 1, mRNA.	180					cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						ACCAGCTCCTGGAATCAGCTT	0.368000														60			32		0	0	0.003271	0	0
TMEM131	23505	broad.mit.edu	37	2	98422129	98422129	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:98422129G>A	uc002syh.4	-	19	2322	c.2093C>T	c.(2092-2094)tCc>tTc	p.S698F		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	698						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CTGTGAGAAGGAATTCATAAT	0.333000														106			41		0	0	0.006999	0	0
A2ML1	144568	broad.mit.edu	37	12	8995744	8995744	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:8995744G>A	uc001quz.4	+	11	1361	c.1263G>A	c.(1261-1263)atG>atA	p.M421I	A2ML1_uc001qva.1_Missense_Mutation_p.M1I|A2ML1_uc010sgm.2_5'Flank	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	265						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AGTTTCAAATGGAAGACTTAG	0.453000														40			22		0	0	0.002299	0	0
PTGS1	5742	broad.mit.edu	37	9	125144005	125144005	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:125144005G>A	uc004bmg.1	+	6	876	c.741G>A	c.(739-741)aaG>aaA	p.K247K	PTGS1_uc011lys.1_Silent_p.K222K|PTGS1_uc010mwb.1_Silent_p.K138K|PTGS1_uc004bmf.1_Silent_p.K247K|PTGS1_uc004bmh.1_Silent_p.K138K|PTGS1_uc011lyt.1_Silent_p.K138K	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	247					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	GGCTCTTTAAGGATGGGAAAC	0.587000														17			19		0	0	0.003954	0	0
LIFR	3977	broad.mit.edu	37	5	38506097	38506097	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:38506097G>T	uc010ive.1	-	8	1533	c.1201C>A	c.(1201-1203)Cca>Aca	p.P401T	LIFR_uc003jli.2_Missense_Mutation_p.P401T	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	401	Fibronectin type-III 2.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TCTTGATTTGGAAGCATTTGA	0.289000			T	PLAG1	salivary adenoma									70			24		2.98393e-07	3.40859e-07	0.002780	1	0
WWC1	23286	broad.mit.edu	37	5	167894896	167894896	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:167894896A>G	uc003lzu.3	+	21	3295	c.3202A>G	c.(3202-3204)Agg>Ggg	p.R1068G	WWC1_uc003lzv.3_Missense_Mutation_p.R1073G|WWC1_uc011den.2_Missense_Mutation_p.R1074G|WWC1_uc003lzw.3_Missense_Mutation_p.R866G|WWC1_uc010jjf.1_Missense_Mutation_p.R340G	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	1068	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CAAGATGATGAGGGCAGCTGC	0.607000														44			26		0	0	0.005443	0	0
TARBP1	6894	broad.mit.edu	37	1	234595032	234595032	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:234595032G>A	uc001hwd.3	-	7	1576	c.1576C>T	c.(1576-1578)Ctg>Ttg	p.L526L		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	526					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GCCCCTCTCAGGAGAATCTGA	0.373000														52			10		0	0	0.001368	0	0
PRKG2	5593	broad.mit.edu	37	4	82070042	82070042	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:82070042G>A	uc003hmh.2	-	7	1163	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	PRKG2_uc011ccf.1_5'UTR|PRKG2_uc011ccg.1_5'UTR|PRKG2_uc011cch.1_Nonsense_Mutation_p.R384*	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	384					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						ACTCACTCTCGATCTATAACC	0.418000														138			27		0	0	0.006320	0	0
ACTL9	284382	broad.mit.edu	37	19	8808763	8808763	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:8808763A>G	uc002mkl.2	-	0	410	c.289T>C	c.(289-291)Ttc>Ctc	p.F97L		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	97						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TCGCCGATGAACGTCTGCAGC	0.692000														22			6		0	0	0.001984	0	0
RBM46	166863	broad.mit.edu	37	4	155720234	155720234	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:155720234A>C	uc003ioo.3	+	3	1093	c.920A>C	c.(919-921)aAa>aCa	p.K307T	RBM46_uc011cim.1_Missense_Mutation_p.K307T|RBM46_uc003iop.1_Missense_Mutation_p.K307T	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	307	RRM 3.						RNA binding|nucleotide binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				ACACTAGCTAAACCAGTAAAT	0.383000														24			5		0	0	0.000602	0	0
VSTM2A	222008	broad.mit.edu	37	7	54612430	54612430	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:54612430C>T	uc022adk.1	+	1	600	c.195C>T	c.(193-195)ttC>ttT	p.F65F	VSTM2A_uc010kzf.3_Silent_p.F65F	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	65	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			AATGGTGGTTCCTGCGGGGGC	0.716000														34			12		0	0	0.001855	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801846	185801846	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:185801846G>A	uc002uph.3	+	3	2317	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	575						intracellular	zinc ion binding	p.E575K(2)|p.D574Y(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CACTCTAGATGAAAAATACAA	0.299000														63			24		0	0	0.006320	0	0
PTPRD	5789	broad.mit.edu	37	9	8633401	8633401	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:8633401G>A	uc003zkk.3	-	13	1011	c.268C>T	c.(268-270)Ccg>Tcg	p.P90S	PTPRD_uc003zkp.3_Missense_Mutation_p.P90S|PTPRD_uc003zkq.3_Missense_Mutation_p.P90S|PTPRD_uc003zkr.3_Missense_Mutation_p.P90S|PTPRD_uc003zks.3_Missense_Mutation_p.P90S|PTPRD_uc022bdj.1_Missense_Mutation_p.P90S|PTPRD_uc003zkt.1_Missense_Mutation_p.P90S	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	90	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCATCCCTCGGAGTCCGTAAG	0.438000										TSP Lung(15;0.13)				28			27		0	0	0.006320	0	0
TFAP4	7023	broad.mit.edu	37	16	4310097	4310097	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:4310097G>A	uc010uxg.2	-	5	1070	c.816C>T	c.(814-816)atC>atT	p.I272I		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	Homo sapiens transcription factor AP-4 (activating enhancer binding protein 4) (TFAP4), mRNA.	272					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GTACCTGCACGATGGTGTCCA	0.582000														36			31		0	0	0.003755	0	0
PLXND1	23129	broad.mit.edu	37	3	129281741	129281741	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:129281741C>G	uc003emx.2	-	26	4814	c.4714G>C	c.(4714-4716)Gtg>Ctg	p.V1572L	PLXND1_uc011blb.1_Missense_Mutation_p.V240L	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1572					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						ATGGCCCGCACGCTCAGCGAG	0.592000														25			8		0	0	0.004482	0	0
CREB3L4	148327	broad.mit.edu	37	1	153945263	153945263	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:153945263T>C	uc001fdm.1	+	4	855	c.587T>C	c.(586-588)cTg>cCg	p.L196P	CREB3L4_uc001fdn.3_Missense_Mutation_p.L196P|CREB3L4_uc010pef.1_Missense_Mutation_p.L49P|CREB3L4_uc001fdo.3_Missense_Mutation_p.L176P|CREB3L4_uc001fdr.2_Missense_Mutation_p.L196P|CREB3L4_uc001fdq.2_Missense_Mutation_p.L176P	NM_130898	NP_570968	Q8TEY5	CR3L4_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 4 (CREB3L4), transcript variant 1, mRNA.	196					response to unfolded protein	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GAGAAGCGTCTGCTGGGGCAG	0.597000														5			9		0	0	0.004482	0	0
RNF216	54476	broad.mit.edu	37	7	5769131	5769131	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:5769131C>T	uc003sox.2	-	6	1580	c.1321G>A	c.(1321-1323)Gtg>Atg	p.V441M	RNF216_uc010ksz.2_Missense_Mutation_p.V6M|RNF216_uc010kta.2_Missense_Mutation_p.V6M|RNF216_uc003soy.2_Missense_Mutation_p.V384M|RNF216_uc011jwj.2_Missense_Mutation_p.V6M	NM_207111	NP_996994	Q9NWF9	RN216_HUMAN	Homo sapiens ring finger protein 216 (RNF216), transcript variant 1, mRNA.	384					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CTACTGAGCACTTTGAAGTCG	0.488000														70			31		0	0	0.009535	0	0
COL21A1	81578	broad.mit.edu	37	6	56035908	56035908	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:56035908C>T	uc003pcs.3	-	3	891	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.R220Q|COL21A1_uc003pcu.1_Missense_Mutation_p.R220Q	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	220					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CACTGGAATTCGTGTTGGACA	0.323000														52			20		0	0	0.003954	0	0
IQCA1	79781	broad.mit.edu	37	2	237396808	237396808	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:237396808G>A	uc002vwb.2	-	3	538	c.504C>T	c.(502-504)ttC>ttT	p.F168F	IQCA1_uc002vvz.1_Silent_p.F161F|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Silent_p.F161F	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	161							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						CAGCCTCATCGAAAGGGATAC	0.398000														11			3		0	0	0.004672	0	0
HGD	3081	broad.mit.edu	37	3	120352144	120352144	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:120352144G>A	uc003edw.3	-	12	1498	c.1038C>T	c.(1036-1038)atC>atT	p.I346I	HGD_uc003edv.3_Silent_p.I205I	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	346					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		AGTGACCTCGGATGAGTCCCA	0.493000														148			50		0	0	0.003610	0	0
CR1L	1379	broad.mit.edu	37	1	207850845	207850845	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:207850845C>T	uc001hga.4	+	1	330	c.209C>T	c.(208-210)tCc>tTc	p.S70F	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	70	Sushi 1.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCTGGTTATTCCGGAAGACCG	0.473000														84			52		0	0	0.003610	0	0
SLC24A3	57419	broad.mit.edu	37	20	19566145	19566145	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:19566145A>G	uc002wrl.3	+	5	766	c.569A>G	c.(568-570)aAc>aGc	p.N190S		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	190						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GCGGTATTCAACATCCTGTGC	0.547000														138			78		0	0	0.003610	0	0
SLC5A5	6528	broad.mit.edu	37	19	18001774	18001774	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:18001774G>A	uc002nhr.4	+	13	2078	c.1731G>A	c.(1729-1731)aaG>aaA	p.K577K		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	577					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	p.P576L(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGGCCCCCAAGGAAGAAGTGG	0.602000														69			24		0	0	0.003954	0	0
MYH13	8735	broad.mit.edu	37	17	10253951	10253951	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:10253951C>T	uc002gmk.1	-	11	1156	c.1066G>A	c.(1066-1068)Gga>Aga	p.G356R	MYH13_uc010vvf.1_Missense_Mutation_p.G31R	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	356	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ATCACGGCTCCCGTCAGTTTG	0.512000														67			11		0	0	0.000978	0	0
CDH24	64403	broad.mit.edu	37	14	23524311	23524311	+	Silent	SNP	G	A	A	rs140243541	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:23524311G>A	uc001wil.3	-	2	713	c.453C>T	c.(451-453)ccC>ccT	p.P151P	CDH24_uc010akf.3_Silent_p.P151P|CDH24_uc001win.3_Silent_p.P151P	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	151	Cadherin 2.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		AGGGCCCAAGGGGAAAAATGG	0.592000											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		88			49		0	0	0.003610	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	46000140	46000140	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:46000140C>T	uc002zfl.1	-	0	342	c.316G>A	c.(316-318)Gat>Aat	p.D106N	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198694	NP_941967	P60370	KR105_HUMAN	Homo sapiens keratin associated protein 10-5 (KRTAP10-5), mRNA.	106	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GAAGAGGAATCCTTAGAgcag	0.647000														63			29		0	0	0.005443	0	0
HIST2H3D	653604	broad.mit.edu	37	1	149784973	149784973	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:149784973C>T	uc010pbl.2	-	0	264	c.264G>A	c.(262-264)tcG>tcA	p.S88S	HIST2H2BF_uc010pbj.2_5'Flank|HIST2H2BF_uc010pbk.2_5'Flank|HIST2H2BF_uc001esr.3_5'Flank	NM_001123375	NP_001116847	Q71DI3	H32_HUMAN	Homo sapiens histone cluster 2, H3d (HIST2H3D), mRNA.	88					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						CCATCACGGCCGAGCTCTGGA	0.632000														35			5		0	0	0.008291	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73464862	73464862	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:73464862C>T	uc001xnm.3	-	2	1366	c.645G>A	c.(643-645)gaG>gaA	p.E215E	ZFYVE1_uc010arj.3_Silent_p.E215E	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	Homo sapiens zinc finger, FYVE domain containing 1 (ZFYVE1), transcript variant 1, mRNA.	215						Golgi stack|endoplasmic reticulum|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		CAGTGCAGGACTCCTGGGTCG	0.498000														48			11		0	0	0.000978	0	0
RASEF	158158	broad.mit.edu	37	9	85677407	85677407	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:85677407G>C	uc004amo.1	-	0	637	c.376C>G	c.(376-378)Cgg>Ggg	p.R126G	RASEF_uc004amp.1_Missense_Mutation_p.R126G	NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	126					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						TGCCAAGCCCGGCCGGGACTC	0.697000														8			9		0	0	0.002450	0	0
GALNT2	2590	broad.mit.edu	37	1	230338955	230338955	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:230338955C>T	uc010pwa.1	+	2	365	c.293C>T	c.(292-294)cCt>cTt	p.P98L	GALNT2_uc010pvy.1_Missense_Mutation_p.P60L|GALNT2_uc010pvz.1_Non-coding_Transcript	NM_004481	NP_004472	Q10471	GALT2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA.	98					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GGGCAGGACCCTTACGCCCGC	0.547000														92			23		0	0	0.003954	0	0
FLOT1	10211	broad.mit.edu	37	6	30698467	30698467	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:30698467A>G	uc003nrm.3	-	9	1107	c.943T>C	c.(943-945)Tct>Cct	p.S315P	FLOT1_uc011dmr.2_Missense_Mutation_p.S267P	NM_005803	NP_005794	O75955	FLOT1_HUMAN	Homo sapiens flotillin 1 (FLOT1), mRNA.	315						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						ACCCGCACAGACGCGGCTTCT	0.557000														274			11		0	0	0.002450	0	0
AKAP3	10566	broad.mit.edu	37	12	4737061	4737061	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:4737061G>A	uc001qnb.4	-	3	1251	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	336					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CCTCAAGAAGGAGTCGATGAG	0.483000														33			18		0	0	0.006122	0	0
MUC16	94025	broad.mit.edu	37	19	9065788	9065788	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9065788C>T	uc002mkp.3	-	2	21862	c.21658G>A	c.(21658-21660)Gat>Aat	p.D7220N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7222	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						ACAGTTGTATCCTCCTGGGTG	0.488000														130			70		0	0	0.003610	0	0
DSE	29940	broad.mit.edu	37	6	116720492	116720492	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:116720492G>A	uc011ebg.2	+	1	235	c.136G>A	c.(136-138)Gag>Aag	p.E46K	DSE_uc011ebf.1_Missense_Mutation_p.E27K|DSE_uc003pwq.1_Missense_Mutation_p.E27K|DSE_uc003pws.3_Missense_Mutation_p.E27K|DSE_uc003pwt.3_Missense_Mutation_p.E27K	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	27					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CATCACCGACGAGAACCCAGA	0.522000														59			24		0	0	0.003330	0	0
TAB2	23118	broad.mit.edu	37	6	149720314	149720314	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:149720314C>T	uc003qmj.3	+	5	2111	c.1933C>T	c.(1933-1935)Ccc>Tcc	p.P645S	TAB2_uc011eec.2_Missense_Mutation_p.P613S|TAB2_uc010kib.2_Missense_Mutation_p.P645S|TAB2_uc003qmk.4_Non-coding_Transcript|SUMO4_uc003qml.3_5'Flank	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 2 (TAB2), mRNA.	645					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|heart development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GCCACCAAAACCCAAAGGTTA	0.323000														28			11		0	0	0.001855	0	0
FNDC9	408263	broad.mit.edu	37	5	156770394	156770394	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:156770394C>T	uc003lwu.2	-	1	339	c.151G>A	c.(151-153)Gag>Aag	p.E51K	CYFIP2_uc021ygm.1_Intron|CYFIP2_uc011ddn.2_Intron|CYFIP2_uc011ddo.2_Intron|CYFIP2_uc021ygn.1_Intron|CYFIP2_uc021ygo.1_Intron|CYFIP2_uc003lwt.3_Intron|CYFIP2_uc011ddp.2_Intron|FNDC9_uc021ygp.1_Missense_Mutation_p.E51K	NM_001001343	NP_001001343	Q8TBE3	FNDC9_HUMAN	Homo sapiens fibronectin type III domain containing 9 (FNDC9), mRNA.	51	Fibronectin type-III.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						ACCTTCTCCTCGTGGTGGAAG	0.547000														66			42		0	0	0.002522	0	0
ELOVL4	6785	broad.mit.edu	37	6	80635945	80635945	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:80635945C>T	uc003pja.4	-	1	573	c.254G>A	c.(253-255)gGg>gAg	p.G85E	ELOVL4_uc011dyt.2_Intron	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN	Homo sapiens ELOVL fatty acid elongase 4 (ELOVL4), mRNA.	85					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	CAAAACCATCCCAAAATTATA	0.348000														27			12		0	0	0.002450	0	0
OSBPL9	114883	broad.mit.edu	37	1	52211292	52211292	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:52211292G>A	uc001cst.3	+	4	640	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	OSBPL9_uc001css.3_Missense_Mutation_p.E153K|OSBPL9_uc009vza.3_Missense_Mutation_p.E118K|OSBPL9_uc001csu.3_Missense_Mutation_p.E158K|OSBPL9_uc001csv.3_5'UTR|OSBPL9_uc001csw.3_Missense_Mutation_p.E135K|OSBPL9_uc001csy.3_5'UTR|OSBPL9_uc001csz.3_Intron|OSBPL9_uc001cta.3_Missense_Mutation_p.E38K	NM_024586	NP_078862	Q96SU4	OSBL9_HUMAN	Homo sapiens oxysterol binding protein-like 9 (OSBPL9), transcript variant 6, mRNA.	135					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						AATCTTGATTGAACAATTAAA	0.289000														22			16		0	0	0.004990	0	0
CALCRL	10203	broad.mit.edu	37	2	188216651	188216651	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:188216651C>T	uc010frt.3	-	12	1549	c.1166G>A	c.(1165-1167)gGa>gAa	p.G389E	CALCRL_uc002upv.4_Missense_Mutation_p.G389E	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	389						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TCATACCTCTCCATTAAAGAA	0.279000														27			4		0	0	0.000602	0	0
GRIA2	2891	broad.mit.edu	37	4	158256915	158256915	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:158256915C>T	uc003ipm.4	+	9	1818	c.1359C>T	c.(1357-1359)atC>atT	p.I453I	GRIA2_uc011cit.2_Silent_p.I406I|GRIA2_uc003ipl.4_Silent_p.I453I|GRIA2_uc003ipk.4_Silent_p.I406I|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	453					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CTGCAGAAATCGCCAAACATT	0.443000														14			10		0	0	0.008291	0	0
MUC16	94025	broad.mit.edu	37	19	9064721	9064721	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9064721G>A	uc002mkp.3	-	2	22929	c.22725C>T	c.(22723-22725)tcC>tcT	p.S7575S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7577	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V7574F(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTCTGTCCTGGAGACCTCAG	0.502000														81			36		0	0	0.004878	0	0
WDR52	55779	broad.mit.edu	37	3	113084890	113084890	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:113084890G>A	uc003ead.2	-	18	2778	c.2711C>T	c.(2710-2712)cCc>cTc	p.P904L	WDR52_uc003eae.2_Missense_Mutation_p.P904L	NM_001164496	NP_001157968	Q96MT7	WDR52_HUMAN	Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA.	904								p.P904P(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ACATACCCTGGGAGATGGAAC	0.289000														89			35		0	0	0.002852	0	0
PTER	9317	broad.mit.edu	37	10	16526508	16526508	+	Missense_Mutation	SNP	C	T	T	rs141767754	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:16526508C>T	uc001iog.1	+	2	332	c.125C>T	c.(124-126)cCg>cTg	p.P42L	PTER_uc001ioh.1_Missense_Mutation_p.P42L|PTER_uc001ioi.1_Missense_Mutation_p.P42L|PTER_uc009xjp.1_Missense_Mutation_p.P42L	NM_030664	NP_109589	Q96BW5	PTER_HUMAN	Homo sapiens phosphotriesterase related (PTER), transcript variant 2, mRNA.	42					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						CCACCTCCCCCGTGCCAGGAA	0.453000														65			18		0	0	0.006122	0	0
LSM11	134353	broad.mit.edu	37	5	157178438	157178438	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:157178438C>T	uc003lxe.1	+	1	493	c.489C>T	c.(487-489)atC>atT	p.I163I		NM_173491	NP_775762	P83369	LSM11_HUMAN	Homo sapiens LSM11, U7 small nuclear RNA associated (LSM11), mRNA.	163					S phase of mitotic cell cycle|histone mRNA 3'-end processing|termination of RNA polymerase II transcription	U7 snRNP|histone pre-mRNA 3'end processing complex|nucleoplasm	U7 snRNA binding|protein binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATCGCTGTATCCGTGAGGGGG	0.493000														61			20		0	0	0.007413	0	0
SYNPO2	171024	broad.mit.edu	37	4	119947923	119947923	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:119947923C>T	uc010inb.3	+	2	595	c.399C>T	c.(397-399)ctC>ctT	p.L133L	SYNPO2_uc010ina.3_Silent_p.L133L|SYNPO2_uc003icm.4_Silent_p.L133L|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Silent_p.L61L	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	133						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.L133P(1)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AATTCTTCCTCGCCCCTGTCA	0.522000														44			11		0	0	0.000978	0	0
CFTR	1080	broad.mit.edu	37	7	117292956	117292956	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:117292956G>A	uc003vjd.3	+	23	4066	c.3934G>A	c.(3934-3936)Gat>Aat	p.D1312N	CFTR_uc011knq.2_Missense_Mutation_p.D718N	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1312	ABC transporter 2.				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)	ACAGTGGAGTGATCAAGAAAT	0.333000									Cystic Fibrosis					35			80		0	0	0.003610	0	0
RRP1	8568	broad.mit.edu	37	21	45217384	45217384	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:45217384C>T	uc002zds.2	+	5	597	c.504C>T	c.(502-504)caC>caT	p.H168H	RRP1_uc011aez.1_Silent_p.H168H|RRP1_uc010gpl.1_Silent_p.H66H|RRP1_uc010gpm.1_Silent_p.H35H	NM_003683	NP_003674	P56182	RRP1_HUMAN	Homo sapiens ribosomal RNA processing 1 homolog (S. cerevisiae) (RRP1), mRNA.	168					rRNA processing	nucleolus|preribosome, small subunit precursor				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		TGAAGAGCCACTTCATCGAGA	0.602000														30			16		0	0	0.004007	0	0
FAM49A	81553	broad.mit.edu	37	2	16736355	16736355	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:16736355C>T	uc010exm.2	-	9	1038	c.890G>A	c.(889-891)gGg>gAg	p.G297E	FAM49A_uc002rck.2_Missense_Mutation_p.G297E	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA.	297						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			ATTTAGCAGCCCCTCCACACT	0.463000														38			14		0	0	0.003163	0	0
CUBN	8029	broad.mit.edu	37	10	16979614	16979614	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:16979614C>T	uc001ioo.3	-	38	5955	c.5903G>A	c.(5902-5904)gGt>gAt	p.G1968D		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1968					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGTAAAACACCATCAGGTGC	0.413000														22			8		0	0	0.004482	0	0
MGAT1	4245	broad.mit.edu	37	5	180219617	180219617	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:180219617G>A	uc003mmg.4	-	1	850	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	MGAT1_uc010jlf.3_Missense_Mutation_p.R119W|MGAT1_uc010jlg.3_Missense_Mutation_p.R119W|MGAT1_uc003mmh.4_Missense_Mutation_p.R119W|MGAT1_uc010jlh.3_Missense_Mutation_p.R119W|MGAT1_uc003mmi.4_Missense_Mutation_p.R119W|MGAT1_uc021yjn.1_Missense_Mutation_p.R119W	NM_002406	NP_002397	P26572	MGAT1_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase (MGAT1), transcript variant 2, mRNA.	119					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGCAGCGCCGAACAGTGCTG	0.692000														21			8		0	0	0.003080	0	0
CCDC85A	114800	broad.mit.edu	37	2	56611444	56611444	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:56611444G>A	uc002rzn.3	+	5	2118	c.1616G>A	c.(1615-1617)gGa>gAa	p.G539E	CCDC85A_uc021vhw.1_Non-coding_Transcript	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	539										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCGTGTCCTGGAATTAGGCAA	0.408000														46			15		0	0	0.006122	0	0
PWP2	5822	broad.mit.edu	37	21	45540342	45540342	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:45540342C>T	uc002zeb.3	+	10	1392	c.1302C>T	c.(1300-1302)tcC>tcT	p.S434S		NM_005049	NP_005040	Q15269	PWP2_HUMAN	Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA.	434						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TGACCTCATCCATGGACGGGA	0.597000														90			46		0	0	0.003610	0	0
TECRL	253017	broad.mit.edu	37	4	65194272	65194272	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:65194272G>A	uc003hcv.3	-	2	398	c.289C>T	c.(289-291)Cca>Tca	p.P97S	TECRL_uc003hcw.3_Missense_Mutation_p.P97S	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	97					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TACCACTTTGGACCTATTCAA	0.323000														31			25		0	0	0.008361	0	0
WFS1	7466	broad.mit.edu	37	4	6302781	6302781	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:6302781C>T	uc003giy.3	+	7	1425	c.1259C>T	c.(1258-1260)cCc>cTc	p.P420L	WFS1_uc003gix.3_Missense_Mutation_p.P420L|WFS1_uc003giz.3_Missense_Mutation_p.P238L	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	420					ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TTCTCCTTCCCCATCGCCAGC	0.592000														226			124		0	0	0.003610	0	0
IARS2	55699	broad.mit.edu	37	1	220315224	220315224	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:220315224C>T	uc001hmc.3	+	19	2598	c.2494C>T	c.(2494-2496)Cgt>Tgt	p.R832C		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA.	832					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TGTAATAGTTCGTTCTTTTGC	0.378000														98			16		0	0	0.003163	0	0
GALNT10	55568	broad.mit.edu	37	5	153709265	153709265	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:153709265G>A	uc003lvh.3	+	3	667	c.535G>A	c.(535-537)Gag>Aag	p.E179K	GALNT10_uc003lvg.1_Missense_Mutation_p.E179K|GALNT10_uc010jic.3_Non-coding_Transcript|GALNT10_uc010jid.3_Missense_Mutation_p.E82K	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA.	179	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GCTGGTCGCCGAGATTGTACT	0.597000														18			12		0	0	0.002450	0	0
PNLIP	5406	broad.mit.edu	37	10	118314748	118314748	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:118314748C>T	uc001lcm.3	+	6	673	c.630C>T	c.(628-630)ccC>ccT	p.P210P		NM_000936	NP_000927	P16233	LIPP_HUMAN	Homo sapiens pancreatic lipase (PNLIP), mRNA.	210					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	GATTGGACCCCAGCGATGCCA	0.483000														21			6		0	0	0.001168	0	0
SAMD9L	219285	broad.mit.edu	37	7	92765204	92765204	+	Silent	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:92765204A>G	uc003umh.1	-	4	1297	c.81T>C	c.(79-81)ctT>ctC	p.L27L	SAMD9L_uc003umj.1_Silent_p.L27L|SAMD9L_uc003umi.1_Silent_p.L27L|SAMD9L_uc010lfb.1_Silent_p.L27L|SAMD9L_uc003umk.1_Silent_p.L27L|SAMD9L_uc010lfc.1_Silent_p.L27L|SAMD9L_uc010lfd.1_Silent_p.L27L|SAMD9L_uc022ahh.1_Silent_p.L27L	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	27	SAM.									central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CATTAATCTTAAGGTCTTCAT	0.383000														40			97		0	0	0.003610	0	0
MUSK	4593	broad.mit.edu	37	9	113562887	113562887	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:113562887C>G	uc022blv.1	+	14	2363	c.2229C>G	c.(2227-2229)gaC>gaG	p.D743E	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.D654E|MUSK_uc022blu.1_Missense_Mutation_p.D644E	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	743	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						AAATTGCCGACTTTGGCCTCT	0.483000														77			55		0	0	0.003610	0	0
SEMA5B	54437	broad.mit.edu	37	3	122630379	122630379	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:122630379A>T	uc003efz.1	-	20	3354	c.3050T>A	c.(3049-3051)aTc>aAc	p.I1017N	SEMA5B_uc011bju.1_Missense_Mutation_p.I923N|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.I1017N|SEMA5B_uc003efy.1_5'UTR	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	1017					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGCTGGCAGGATGACTGCAGG	0.647000														29			7		0	0	0.001984	0	0
SERPINB8	5271	broad.mit.edu	37	18	61654452	61654452	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:61654452C>T	uc002ljv.3	+	6	1234	c.1065C>T	c.(1063-1065)ttC>ttT	p.F355F	SERPINB8_uc002lju.3_Silent_p.F355F|SERPINB8_uc010xex.2_Silent_p.F173F	NM_198833	NP_942130	P50452	SPB8_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA.	355					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CTTTTCTTTTCTTCATCAGGC	0.512000														89			16		0	0	0.008871	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28333934	28333934	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:28333934G>A	uc010jrc.3	+	6	1822	c.1489G>A	c.(1489-1491)Gaa>Aaa	p.E497K	ZKSCAN3_uc003nle.4_Missense_Mutation_p.E497K|ZKSCAN3_uc003nlf.4_Missense_Mutation_p.E349K	NM_001242894	NP_001229823	Q9BRR0	ZKSC3_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 3 (ZKSCAN3), transcript variant 1, mRNA.	497					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						AGGCCTCATTGAACATCAAAA	0.398000														32			16		0	0	0.003163	0	0
CYP2C8	1558	broad.mit.edu	37	10	96818118	96818118	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:96818118C>T	uc001kkb.3	-	4	888	c.793G>A	c.(793-795)Gat>Aat	p.D265N	CYP2C8_uc010qoa.2_Missense_Mutation_p.D195N|CYP2C8_uc010qoc.2_Missense_Mutation_p.D163N|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.D179N|CYP2C8_uc021pwl.1_Missense_Mutation_p.D195N|CYP2C8_uc010qod.1_Missense_Mutation_p.D179N	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	265					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	p.D265N(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	AGGAAGCAATCGATAAAGTCC	0.358000														29			21		0	0	0.002780	0	0
OR10H3	26532	broad.mit.edu	37	19	15852893	15852893	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:15852893C>T	uc010xoq.2	+	0	691	c.691C>T	c.(691-693)Cct>Tct	p.P231S		NM_013938	NP_039226	O60404	O10H3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P231L(1)		cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTTGAGGATTCCTTCTGCTGA	0.502000														128			59		0	0	0.003610	0	0
TET2	54790	broad.mit.edu	37	4	106155143	106155143	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:106155143G>T	uc011cez.2	+	2	512	c.107G>T	c.(106-108)aGt>aTt	p.S36I	TET2_uc003hxk.3_Missense_Mutation_p.S15I|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.S15I|TET2_uc010ilp.2_Missense_Mutation_p.S15I|TET2_uc021xql.1_Missense_Mutation_p.S15I	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	15					cell cycle|myeloid cell differentiation		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(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AACAGACTAAGTCCATTCCTG	0.502000			"""Mis N, F"""		MDS									29			8		0.00307968	0.00350069	0.003080	1	0
MRPL46	26589	broad.mit.edu	37	15	89008035	89008035	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:89008035T>C	uc002bmj.2	-	2	513	c.488A>G	c.(487-489)gAg>gGg	p.E163G	MRPL46_uc002bmi.1_Missense_Mutation_p.E41G|MRPS11_uc002bmm.3_5'Flank|MRPS11_uc002bmn.3_5'Flank|MRPS11_uc010bnj.3_5'Flank|MRPS11_uc002bml.3_5'Flank	NM_022163	NP_071446	Q9H2W6	RM46_HUMAN	Homo sapiens mitochondrial ribosomal protein L46 (MRPL46), nuclear gene encoding mitochondrial protein, mRNA.	163						mitochondrion|ribosome	hydrolase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TCCAAACTTCTCTCTGACTAA	0.527000														194			22		0	0	0.002299	0	0
TTN	7273	broad.mit.edu	37	2	179440268	179440268	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179440268C>T	uc021vsy.1	-	274	63112	c.62887G>A	c.(62887-62889)Gaa>Aaa	p.E20963K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E14658K|TTN_uc021vta.1_Missense_Mutation_p.E14591K|TTN_uc021vtb.1_Missense_Mutation_p.E14466K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21890	Ig-like 112.						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)			GATGGTGCTTCAGAGGCTTTT	0.488000														228			106		0	0	0.003610	0	0
TRIM10	10107	broad.mit.edu	37	6	30128443	30128443	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:30128443G>A	uc003npo.3	-	0	269	c.193C>T	c.(193-195)Cgt>Tgt	p.R65C	TRIM10_uc003npn.2_Missense_Mutation_p.R65C|TRIM15_uc010jrx.3_5'Flank	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	65			R -> H (in dbSNP:rs12212092).			cytoplasm	zinc ion binding			ovary(1)	1						CTCCCAGGACGGAAGGGTTCT	0.612000														174			63		0	0	0.003610	0	0
PDE1A	5136	broad.mit.edu	37	2	183129116	183129116	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:183129116C>T	uc002uos.3	-	2	211	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	PDE1A_uc010zfp.1_5'UTR|PDE1A_uc002uoq.1_Missense_Mutation_p.E43K|PDE1A_uc010zfq.1_Missense_Mutation_p.E43K|PDE1A_uc002uor.3_Missense_Mutation_p.E27K|PDE1A_uc002uov.1_Non-coding_Transcript	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	43	Calmodulin-binding (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TCACCTCTTTCCAGCTGCTTC	0.353000														39			18		0	0	0.008871	0	0
NRAP	4892	broad.mit.edu	37	10	115391667	115391667	+	Silent	SNP	C	T	T	rs139136683		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:115391667C>T	uc001lal.3	-	16	1853	c.1689G>A	c.(1687-1689)ctG>ctA	p.L563L	NRAP_uc009xyb.3_5'Flank|NRAP_uc001laj.3_Silent_p.L563L|NRAP_uc001lak.3_Silent_p.L528L	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	563						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ACATGGCATCCAGCTTCATCT	0.443000														48			50		0	0	0.003610	0	0
HEATR5B	54497	broad.mit.edu	37	2	37265141	37265141	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:37265141G>A	uc002rpp.1	-	20	3169	c.3073C>T	c.(3073-3075)Cgt>Tgt	p.R1025C		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	1025							binding	p.R1025H(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CAAGAGGAACGAATTGTAGAA	0.363000														17			21		0	0	0.008361	0	0
MS4A4E	643680	broad.mit.edu	37	11	59997402	59997402	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:59997402T>C	uc001noy.2	-	0	143	c.127A>G	c.(127-129)Aaa>Gaa	p.K43E	MS4A4E_uc001nov.2_Non-coding_Transcript|MS4A4E_uc001now.2_Non-coding_Transcript|MS4A4E_uc001nox.2_Missense_Mutation_p.K43E|MS4A4E_uc009ymw.2_Missense_Mutation_p.K43E					RecName: Full=Putative membrane-spanning 4-domains subfamily A member 4E;											ovary(1)	1						ACTTTGGGTTTCCTCTTGAAG	0.458000														13			7		0	0	0.001984	0	0
EHD3	30845	broad.mit.edu	37	2	31489531	31489532	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:31489531_31489532CC>AT	uc002rnu.3	+	5	2177_2178	c.1569_1570CC>AT	c.(1567-1572)gcccac>gcATac	p.H524Y	EHD3_uc010ymt.2_3'UTR	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	524	EH.				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					AGCTGCCTGCCCACCTCCTGCC	0.599000														47			23		0	0	0.004672	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767304	77767304	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:77767304C>T	uc003yau.2	+	9	8534	c.8147C>T	c.(8146-8148)tCc>tTc	p.S2716F	ZFHX4_uc003yaw.1_Missense_Mutation_p.S2671F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2671						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y2716N(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTTTAATATCCACCGAAGAT	0.433000										HNSCC(33;0.089)				36			15		0	0	0.006122	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140712561	140712561	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140712561C>T	uc003lji.2	+	0	2310	c.2310C>T	c.(2308-2310)ttC>ttT	p.F770F	PCDHGC5_uc011dan.2_Silent_p.F770F	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	779					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)			ACCTGATTTTCCCCCAGCCCA	0.547000														98			49		0	0	0.003610	0	0
ABCA9	10350	broad.mit.edu	37	17	67017945	67017945	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:67017945G>A	uc002jhu.3	-	17	2482	c.2339C>T	c.(2338-2340)tCc>tTc	p.S780F	ABCA9_uc010dez.3_Missense_Mutation_p.S780F	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	780					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AGTTGTTATGGAAACACCATA	0.299000														55			29		0	0	0.002096	0	0
USH2A	7399	broad.mit.edu	37	1	216495296	216495296	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:216495296C>T	uc001hku.1	-	8	1960	c.1573G>A	c.(1573-1575)Gat>Aat	p.D525N	USH2A_uc001hkv.3_Missense_Mutation_p.D525N	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	525	Laminin EGF-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCGCAGTTATCGGCATGACCA	0.443000										HNSCC(13;0.011)				53			37		0	0	0.008740	0	0
PCLO	27445	broad.mit.edu	37	7	82579685	82579685	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:82579685C>T	uc003uhx.2	-	5	10508	c.10219G>A	c.(10219-10221)Gaa>Aaa	p.E3407K	PCLO_uc003uhv.2_Missense_Mutation_p.E3407K|PCLO_uc010lec.3_Missense_Mutation_p.E372K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3338					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTTGTTTTTCCTCTTTCACA	0.418000														35			55		0	0	0.003610	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43825296	43825296	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:43825296G>A	uc010skx.2	-	21	3100	c.3100C>T	c.(3100-3102)Ctt>Ttt	p.L1034F	ADAMTS20_uc001rno.1_Missense_Mutation_p.L188F|ADAMTS20_uc001rnp.1_Missense_Mutation_p.L188F	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1034	TSP type-1 5.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CATGTAACAAGGCACTGTAAG	0.368000														115			32		0	0	0.003271	0	0
MYBPC2	4606	broad.mit.edu	37	19	50958842	50958842	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:50958842C>T	uc002psf.2	+	19	2330	c.2279C>T	c.(2278-2280)cCg>cTg	p.P760L		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	760	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TGGAGGCCTCCGAACAGGATC	0.597000														69			28		0	0	0.008361	0	0
HHLA2	11148	broad.mit.edu	37	3	108076803	108076803	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:108076803G>A	uc003dwz.3	+	5	1212	c.798G>A	c.(796-798)ggG>ggA	p.G266G	HHLA2_uc011bhl.2_Silent_p.G202G|HHLA2_uc010hpu.3_Silent_p.G266G|HHLA2_uc003dwy.4_Silent_p.G266G	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	266	Ig-like V-type 2.					integral to membrane		p.G266W(1)		endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TGAAAAGTGGGACTTTCTCTG	0.383000														106			58		0	0	0.003610	0	0
SCN4A	6329	broad.mit.edu	37	17	62020281	62020281	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:62020281C>T	uc002jds.1	-	22	4270	c.4193G>A	c.(4192-4194)gGg>gAg	p.G1398E		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1398					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CACGCACTCCCCTGTGAAGAT	0.517000														54			22		0	0	0.002299	0	0
PFKL	5211	broad.mit.edu	37	21	45741700	45741700	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:45741700C>T	uc002zek.3	+	15	1822	c.1421C>T	c.(1420-1422)tCc>tTc	p.S474F	PFKL_uc002zel.3_Missense_Mutation_p.S427F|PFKL_uc002zem.3_Missense_Mutation_p.S14F|PFKL_uc002zen.3_Missense_Mutation_p.S14F			P17858	K6PL_HUMAN	Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA.	427					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		ACCGGCATCTCCCATGGACAC	0.627000														68			22		0	0	0.002299	0	0
UNK	85451	broad.mit.edu	37	17	73780818	73780818	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:73780818G>A	uc002jpm.3	+	1	85	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	UNK_uc021udd.1_5'UTR|MIR4738_uc021udc.1_5'Flank|UNK_uc002jpn.3_Non-coding_Transcript|UNK_uc002jpo.3_Non-coding_Transcript	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	Homo sapiens unkempt homolog (Drosophila) (UNK), transcript variant 1, mRNA.	0							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCGGACATAGAACCACAACT	0.637000														17			7		0	0	0.006214	0	0
EPHA10	284656	broad.mit.edu	37	1	38184120	38184120	+	Missense_Mutation	SNP	C	T	T	rs150426144	by1000genomes	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:38184120C>T	uc009vvi.3	-	16	3037	c.2951G>A	c.(2950-2952)cGa>cAa	p.R984Q	EPHA10_uc001cbt.3_Non-coding_Transcript|EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	984	SAM.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.R985Q(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGGGCCTCTCGATGTTCAGC	0.617000														60			40		0	0	0.002852	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140175844	140175844	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140175844C>T	uc003lhd.2	+	0	1401	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.S432L|PCDHAC2_uc011czy.2_Missense_Mutation_p.S432L	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	446	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGGGGGCTCGCCTTCACTG	0.622000														88			37		0	0	0.003271	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883927	228883927	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:228883927G>A	uc002vpq.2	-	6	1690	c.1643C>T	c.(1642-1644)tCc>tTc	p.S548F	SPHKAP_uc002vpp.2_Missense_Mutation_p.S548F|SPHKAP_uc010zlx.1_Missense_Mutation_p.S548F	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	548						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTCATTGATGGAAGGTTCCTT	0.532000														81			27		0	0	0.004656	0	0
ATG4C	84938	broad.mit.edu	37	1	63299789	63299789	+	Splice_Site	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:63299789T>C	uc001dat.3	+	8	1200	c.1012_splice	c.e8+2	p.D338_splice	ATG4C_uc001dau.3_Splice_Site_p.D338_splice	NM_178221	NP_835739	Q96DT6	ATG4C_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog C (S. cerevisiae) (ATG4C), transcript variant 2, mRNA.	338					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						GATTTCAAGGTTAGTGATTTA	0.308000														56			24		0	0	0.002780	0	0
SLC4A9	83697	broad.mit.edu	37	5	139747434	139747434	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:139747434G>A	uc003lfm.2	+	15	2412	c.2377G>A	c.(2377-2379)Gag>Aag	p.E793K	SLC4A9_uc003lfj.2_Missense_Mutation_p.E769K|SLC4A9_uc011czg.1_Missense_Mutation_p.E706K|SLC4A9_uc003lfl.2_Missense_Mutation_p.E769K|SLC4A9_uc003lfk.2_Missense_Mutation_p.E755K	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 9 (SLC4A9), mRNA.	793	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCGGAGAGAGAGCAGAGC	0.582000														21			11		0	0	0.001368	0	0
MYLK4	340156	broad.mit.edu	37	6	2675297	2675297	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:2675297G>A	uc003mty.4	-	10	1400	c.1103C>T	c.(1102-1104)tCc>tTc	p.S368F	MYLK4_uc003mtx.4_Missense_Mutation_p.S83F	NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	Homo sapiens myosin light chain kinase family, member 4 (MYLK4), mRNA.	368							ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				ATTGAGTCTGGAGTGGAGCTT	0.473000														92			40		0	0	0.003610	0	0
MYH2	4620	broad.mit.edu	37	17	10441041	10441041	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:10441041C>T	uc010coi.3	-	14	1656	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E510K|MYH2_uc010coj.3_Missense_Mutation_p.E510K	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	510	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AACGTCCACTCGATGCCTTCC	0.493000														62			41		0	0	0.008740	0	0
PDLIM5	10611	broad.mit.edu	37	4	95497158	95497158	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:95497158C>T	uc003hti.3	+	4	834	c.683C>T	c.(682-684)tCc>tTc	p.S228F	PDLIM5_uc003htf.3_Intron|PDLIM5_uc003htg.3_Missense_Mutation_p.S119F|PDLIM5_uc011cdx.1_Missense_Mutation_p.S119F|PDLIM5_uc003htj.3_Intron|PDLIM5_uc003htk.3_Missense_Mutation_p.S119F|PDLIM5_uc011cdy.2_Missense_Mutation_p.S106F|PDLIM5_uc003hth.3_Missense_Mutation_p.S119F	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	Homo sapiens PDZ and LIM domain 5 (PDLIM5), transcript variant 1, mRNA.	228					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		AGAAGAGGATCCCAGGGTGAC	0.483000														40			11		0	0	0.003163	0	0
KCNA5	3741	broad.mit.edu	37	12	5154633	5154633	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:5154633C>T	uc001qni.3	+	0	1549	c.1320C>T	c.(1318-1320)ttC>ttT	p.F440F		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	440						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TCATCTTCTTCCTCTTCATCG	0.587000														32			11		0	0	0.003163	0	0
GLB1L	79411	broad.mit.edu	37	2	220108284	220108284	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:220108284C>T	uc002vkm.3	-	1	251	c.12G>A	c.(10-12)aaG>aaA	p.K4K	GLB1L_uc010zkx.2_Silent_p.K4K|GLB1L_uc002vkn.3_Silent_p.K4K|STK16_uc002vko.2_5'Flank|STK16_uc002vks.2_5'Flank|STK16_uc010zky.2_5'Flank|STK16_uc010fwf.3_5'Flank|STK16_uc002vkp.2_5'Flank	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN	Homo sapiens galactosidase, beta 1-like (GLB1L), mRNA.	4					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGACAGCTTCTTGGGAGCCA	0.637000														45			15		0	0	0.004990	0	0
CDC20B	166979	broad.mit.edu	37	5	54439467	54439467	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:54439467G>A	uc003jpo.2	-	3	537	c.360C>T	c.(358-360)tcC>tcT	p.S120S	CDC20B_uc003jpn.2_Silent_p.S120S|CDC20B_uc010ivu.2_Silent_p.S120S|CDC20B_uc010ivv.2_Silent_p.S120S|CDC20B_uc003jpp.3_Non-coding_Transcript	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	120										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GTTCTTTGCGGGATCCTACAA	0.408000														29			15		0	0	0.004007	0	0
KRT6B	3854	broad.mit.edu	37	12	52841151	52841151	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:52841151G>A	uc001sak.3	-	8	1566	c.1518C>T	c.(1516-1518)ggC>ggT	p.G506G		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	506	Tail.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CCAGGCCTAAGCCACTGCCGA	0.622000														30			10		0	0	0.001368	0	0
SHPRH	257218	broad.mit.edu	37	6	146243875	146243875	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:146243875C>T	uc003qlf.3	-	18	4042	c.3643G>A	c.(3643-3645)Gag>Aag	p.E1215K	SHPRH_uc003qle.3_Missense_Mutation_p.E1219K|SHPRH_uc003qlg.1_Missense_Mutation_p.E771K|SHPRH_uc003qlh.3_Missense_Mutation_p.E140K|SHPRH_uc003qli.1_Missense_Mutation_p.E140K	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	1215					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GGAGGTCCCTCCAGGTTTTTT	0.438000														45			13		0	0	0.001368	0	0
SEC24A	10802	broad.mit.edu	37	5	134059340	134059340	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:134059340C>T	uc003kzs.3	+	21	3439	c.3147C>T	c.(3145-3147)ttC>ttT	p.F1049F	SEC24A_uc011cxu.2_Silent_p.F813F	NM_021982	NP_068817	O95486	SC24A_HUMAN	Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA.	1049					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACCATTTTTCCCAATACTTT	0.368000														58			18		0	0	0.010504	0	0
C1orf177	163747	broad.mit.edu	37	1	55282696	55282696	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:55282696G>A	uc001cyb.4	+	8	1139	c.1085G>A	c.(1084-1086)tGg>tAg	p.W362*	C1orf177_uc001cya.4_Nonsense_Mutation_p.W362*	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	362										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						CTCAACACCTGGCTGATGGAG	0.577000														38			13		0	0	0.004007	0	0
RGPD3	653489	broad.mit.edu	37	2	107041433	107041433	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:107041433G>A	uc010ywi.1	-	19	3047	c.2990C>T	c.(2989-2991)tCa>tTa	p.S997L		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	997					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCCAGCACCTGAAAATCCCTT	0.378000														155			70		0	0	0.003610	0	0
GPC6	10082	broad.mit.edu	37	13	94197620	94197620	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:94197620G>A	uc001vlt.3	+	1	897	c.265G>A	c.(265-267)Gag>Aag	p.E89K	GPC6_uc010tig.1_Missense_Mutation_p.E89K|GPC6_uc001vlu.1_Missense_Mutation_p.E19K	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	Homo sapiens glypican 6 (GPC6), mRNA.	89						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CCTTGTGGAAGAGACAAGCCA	0.403000														64			33		0	0	0.004289	0	0
ACVR2B	93	broad.mit.edu	37	3	38519999	38519999	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:38519999T>A	uc003cif.3	+	4	680	c.656T>A	c.(655-657)tTc>tAc	p.F219Y	ACVR2B_uc003cig.3_Missense_Mutation_p.F10Y	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	Homo sapiens activin A receptor, type IIB (ACVR2B), mRNA.	219	Protein kinase.				BMP signaling pathway|activin receptor signaling pathway|anterior/posterior pattern formation|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	ATP binding|activin receptor activity|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		GTCAAGATCTTCCCACTCCAG	0.577000														58			28		0	0	0.002096	0	0
FRMPD3	84443	broad.mit.edu	37	X	106845547	106845547	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:106845547G>A	uc022cce.1	+	0	1913	c.1545G>A	c.(1543-1545)aaG>aaA	p.K515K				Q5JV73	FRPD3_HUMAN	Homo sapiens mRNA for KIAA1817 protein, partial cds.	1459						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GGGAGGCCAAGGAGGTAGAGG	0.632000														5			14		0	0	0.003163	0	0
FAM171A1	221061	broad.mit.edu	37	10	15254982	15254982	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:15254982C>T	uc001iob.3	-	7	2612	c.2605G>A	c.(2605-2607)Gga>Aga	p.G869R		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	869						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TTGTCTTCTCCTTGGTCATCA	0.557000														124			53		0	0	0.003610	0	0
CD200R1	131450	broad.mit.edu	37	3	112648221	112648221	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:112648221C>T	uc003dzj.1	-	3	569	c.336G>A	c.(334-336)aaG>aaA	p.K112K	CD200R1_uc003dzk.1_Silent_p.K89K|CD200R1_uc011bhx.1_Silent_p.K67K|CD200R1_uc003dzl.1_Silent_p.K112K|CD200R1_uc003dzm.1_Silent_p.K89K	NM_138806	NP_620161	Q8TD46	MO2R1_HUMAN	Homo sapiens CD200 receptor 1 (CD200R1), transcript variant 1, mRNA.	89	Ig-like V-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TTGTTTCTTTCTTGTAGGCTT	0.438000														54			33		0	0	0.004289	0	0
UNC13A	23025	broad.mit.edu	37	19	17735681	17735681	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:17735681G>A	uc021uqk.1	-	34	4193	c.4151C>T	c.(4150-4152)aCc>aTc	p.T1384I		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	1385	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.N1383N(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TTTCTCCATGGTGTTCATAAC	0.602000														18			26		0	0	0.004656	0	0
DCC	1630	broad.mit.edu	37	18	50936947	50936947	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:50936947C>T	uc002lfe.2	+	19	3677	c.3061C>T	c.(3061-3063)Cga>Tga	p.R1021*	DCC_uc010xdr.1_Nonsense_Mutation_p.R849*|DCC_uc010dpf.2_Nonsense_Mutation_p.R656*	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1021	Fibronectin type-III 6.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GTATTACTTTCGAATTCAAGC	0.378000														43			25		0	0	0.003330	0	0
DEGS2	123099	broad.mit.edu	37	14	100615479	100615479	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:100615479G>A	uc001ygx.2	-	1	739	c.651C>T	c.(649-651)ttC>ttT	p.F217F		NM_206918	NP_996801	Q6QHC5	DEGS2_HUMAN	Homo sapiens delta(4)-desaturase, sphingolipid 2 (DEGS2), mRNA.	217					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				CCAGGCCCAGGAAGGAGCTGG	0.637000														70			25		0	0	0.003954	0	0
EYA2	2139	broad.mit.edu	37	20	45717957	45717957	+	Silent	SNP	G	A	A	rs143429707	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:45717957G>A	uc002xsm.3	+	7	1115	c.741G>A	c.(739-741)ggG>ggA	p.G247G	EYA2_uc010ghp.3_Silent_p.G247G|EYA2_uc002xsq.3_Silent_p.G247G	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	247					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CCTCCGACGGGAAGCTCCGAG	0.577000														66			64		0	0	0.003610	0	0
THEMIS	387357	broad.mit.edu	37	6	128134578	128134578	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:128134578C>T	uc011ebt.2	-	3	1357	c.1208G>A	c.(1207-1209)gGa>gAa	p.G403E	THEMIS_uc010kfa.3_Missense_Mutation_p.G306E|THEMIS_uc021zfa.1_Missense_Mutation_p.G403E|THEMIS_uc010kfb.3_Missense_Mutation_p.G368E	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	403	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TTTTTTTATTCCCTCACAGAG	0.468000														57			35		0	0	0.002445	0	0
DENND4A	10260	broad.mit.edu	37	15	65988768	65988768	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:65988768G>A	uc002api.3	-	21	3400	c.3015C>T	c.(3013-3015)tcC>tcT	p.S1005S	DENND4A_uc002aph.3_Silent_p.S962S|DENND4A_uc002apj.3_Silent_p.S962S	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	962					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GAACGATACTGGAAGAATTTT	0.378000														19			48		0	0	0.003610	0	0
GRIA1	2890	broad.mit.edu	37	5	153078450	153078450	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:153078450G>A	uc011dcy.2	+	9	1326	c.1299G>A	c.(1297-1299)aaG>aaA	p.K433K	GRIA1_uc003lva.4_Silent_p.K423K|GRIA1_uc003luy.4_Silent_p.K423K|GRIA1_uc003luz.4_Silent_p.K328K|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.K343K|GRIA1_uc011dcx.2_Silent_p.K354K|GRIA1_uc011dcz.2_Silent_p.K433K|GRIA1_uc010jia.1_Silent_p.K403K	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	423					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGATGCTCAAGAAGAACGCCA	0.517000														75			35		0	0	0.008740	0	0
EGFL8	80864	broad.mit.edu	37	6	32135730	32135730	+	Silent	SNP	A	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:32135730A>C	uc003oab.1	+	8	986	c.879A>C	c.(877-879)cgA>cgC	p.R293R	EGFL8_uc003nzy.2_Non-coding_Transcript|EGFL8_uc003oac.1_Silent_p.R293R	NM_030652	NP_085155	Q99944	EGFL8_HUMAN	Homo sapiens EGF-like-domain, multiple 8 (EGFL8), transcript variant 1, mRNA.	293						extracellular region|integral to membrane	calcium ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						TCAATCATCGATAAGAAGCCT	0.542000														275			106		0	0	0.003610	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709855	128709855	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:128709855G>A	uc001qeo.1	-	1	392	c.341C>T	c.(340-342)cCt>cTt	p.P114L	KCNJ1_uc001qep.1_Missense_Mutation_p.P95L|KCNJ1_uc001qeq.1_Missense_Mutation_p.P95L|KCNJ1_uc001qer.1_Missense_Mutation_p.P95L|KCNJ1_uc001qes.1_Missense_Mutation_p.P95L|KCNJ1_uc021qsb.1_Missense_Mutation_p.P95L	NM_000220	NP_000211	P48048	IRK1_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA.	114					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	ATTGGCAGAAGGATGGAATTC	0.453000														39			16		0	0	0.003163	0	0
CCDC73	493860	broad.mit.edu	37	11	32636355	32636355	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:32636355C>T	uc001mtv.3	-	15	1553	c.1509G>A	c.(1507-1509)tcG>tcA	p.S503S		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	503										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					CCGTAACATTCGAGGTTTGTC	0.323000														60			22		0	0	0.001882	0	0
GPR179	440435	broad.mit.edu	37	17	36499102	36499102	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:36499102C>T	uc002hpz.3	-	0	592	c.571G>A	c.(571-573)Gac>Aac	p.D191N		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	191						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GTGTCCAGGTCCCCAGGAGGG	0.637000														49			15		0	0	0.003163	0	0
CPNE5	57699	broad.mit.edu	37	6	36714238	36714238	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:36714238A>G	uc003omr.1	-	15	1202	c.1135T>C	c.(1135-1137)Ttc>Ctc	p.F379L	CPNE5_uc003omp.1_Missense_Mutation_p.F87L|CPNE5_uc010jwn.1_Missense_Mutation_p.F29L|CPNE5_uc003omq.1_Missense_Mutation_p.F29L	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	379	VWFA.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGGGCAGGGAACATCTTGTCA	0.627000														49			21		0	0	0.001882	0	0
MACC1	346389	broad.mit.edu	37	7	20197884	20197884	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:20197884T>G	uc003sus.4	-	4	2409	c.2100A>C	c.(2098-2100)ttA>ttC	p.L700F	MACC1_uc010kug.3_Missense_Mutation_p.L700F	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	700					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	p.L700I(1)		endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						AATCTTCCTTTAACTTCTTTA	0.363000														42			22		0	0	0.010504	0	0
GRM1	2911	broad.mit.edu	37	6	146625959	146625960	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:146625959_146625960CC>TT	uc010khw.1	+	3	1633_1634	c.1163_1164CC>TT	c.(1162-1164)ccc>cTT	p.P388L	GRM1_uc010khv.1_Missense_Mutation_p.P388L|GRM1_uc003qll.2_Missense_Mutation_p.P388L|GRM1_uc011edz.1_Missense_Mutation_p.P388L|GRM1_uc011eea.1_Missense_Mutation_p.P388L	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	388					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CTGGAAAATCCCAACTTTAAAC	0.446000														44			10		0	0	0.004672	0	0
ATP8B3	148229	broad.mit.edu	37	19	1783131	1783131	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:1783131C>T	uc002ltw.3	-	28	4033	c.3799G>A	c.(3799-3801)Ggc>Agc	p.G1267S	ATP8B3_uc002ltv.3_Missense_Mutation_p.G1230S|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	1267					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		AGAATTGTGCCCTGAGTGATG	0.562000														10			8		0	0	0.006214	0	0
GJA10	84694	broad.mit.edu	37	6	90604323	90604323	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:90604323G>A	uc011eaa.2	+	0	136	c.136G>A	c.(136-138)Gat>Aat	p.D46N		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.	46					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GGATGTCTGGGATGATGAACA	0.493000														40			20		0	0	0.008871	0	0
KRT73	319101	broad.mit.edu	37	12	53010152	53010152	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:53010152C>T	uc001sas.3	-	1	495	c.460G>A	c.(460-462)Gag>Aag	p.E154K		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	154	Coil 1A.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTCTGCTGCTCCAGGAACCGC	0.522000														46			23		0	0	0.003330	0	0
SLC16A9	220963	broad.mit.edu	37	10	61413644	61413644	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:61413644G>A	uc010qig.1	-	4	1589	c.1140C>T	c.(1138-1140)atC>atT	p.I380I		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	380					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						GGCCCATGATGATTAAGGTAG	0.418000														22			26		0	0	0.003954	0	0
RPRD2	23248	broad.mit.edu	37	1	150445502	150445502	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:150445502C>T	uc009wlr.3	+	10	4279	c.4078C>T	c.(4078-4080)Cct>Tct	p.P1360S	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.4_Missense_Mutation_p.P1334S	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	1360	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCTCAACGGCCCTGGCCTTAG	0.647000														22			20		0	0	0.002299	0	0
RYR2	6262	broad.mit.edu	37	1	237947694	237947694	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:237947694G>A	uc001hyl.1	+	89	12802	c.12682G>A	c.(12682-12684)Gag>Aag	p.E4228K	RYR2_uc010pya.2_Missense_Mutation_p.E643K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4228					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G4228R(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGGCCGGAAGAGCAGGGGCC	0.542000														20			6		0	0	0.001168	0	0
ASIC2	40	broad.mit.edu	37	17	31415919	31415919	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:31415919G>A	uc002hht.3	-	2	1822	c.949C>T	c.(949-951)Cca>Tca	p.P317S	ASIC2_uc002hhu.3_Missense_Mutation_p.P266S	NM_183377	NP_899233	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA.	266					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	TGGAACCCTGGAGCCACCCCA	0.562000														24			3		0	0	0.004672	0	0
PENK	5179	broad.mit.edu	37	8	57354068	57354068	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:57354068G>A	uc003xsz.2	-	1	648	c.567C>T	c.(565-567)ttC>ttT	p.F189F	PENK_uc003xta.3_Silent_p.F189F	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	189					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			AGCCTCTCATGAAGCCCCCAT	0.517000														122			70		0	0	0.003610	0	0
EFR3A	23167	broad.mit.edu	37	8	132991232	132991232	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:132991232C>T	uc003yte.3	+	12	1669	c.1465C>T	c.(1465-1467)Cgt>Tgt	p.R489C		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	489						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TCTCATGGATCGTCATGACAA	0.393000														108			43		0	0	0.003214	0	0
C2orf53	339779	broad.mit.edu	37	2	27360391	27360391	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:27360391C>T	uc002rjb.2	-	2	1387	c.807G>A	c.(805-807)agG>agA	p.R269R	PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|C2orf53_uc021vfb.1_Silent_p.R269R	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	Homo sapiens chromosome 2 open reading frame 53 (C2orf53), mRNA.	269										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGTCCAGTCCTGTACCTGG	0.667000														33			23		0	0	0.002780	0	0
STK33	65975	broad.mit.edu	37	11	8496233	8496233	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:8496233C>T	uc001mgi.1	-	0	1139	c.220G>A	c.(220-222)Gat>Aat	p.D74N	STK33_uc001mgj.1_Missense_Mutation_p.D74N|STK33_uc001mgk.1_Missense_Mutation_p.D74N|STK33_uc010rbn.1_Missense_Mutation_p.D33N|STK33_uc001mgl.3_Intron|STK33_uc009yfp.3_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	74						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TTTACCAAATCTTTCCTGGAG	0.373000														16			3		0	0	0.004672	0	0
C3orf30	152405	broad.mit.edu	37	3	118867108	118867108	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:118867108G>A	uc003ecb.1	+	1	1520	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.E494K	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	494										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		TATAGTTTATGAAGATCCTTA	0.338000														44			21		0	0	0.001882	0	0
SFTPA1	653509	broad.mit.edu	37	10	81372115	81372115	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:81372115G>A	uc009xry.3	+	3	347	c.265G>A	c.(265-267)Ggg>Agg	p.G89R	SFTPA1_uc001kap.3_Missense_Mutation_p.G74R|SFTPA1_uc001kar.3_Missense_Mutation_p.G74R|SFTPA1_uc001kaq.3_Missense_Mutation_p.G74R|SFTPA1_uc001kao.3_Intron|SFTPA1_uc021puu.1_Intron|SFTPA1_uc010qlt.2_Missense_Mutation_p.G15R|SFTPA1_uc009xrz.3_Intron	NM_001093770	NP_005402	Q8IWL2	SFTA1_HUMAN	Homo sapiens surfactant protein A1 (SFTPA1), transcript variant 2, mRNA.	74	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TGGAAATGATGGGCTGCCTGG	0.612000														99			72		0	0	0.003610	0	0
LECT2	3950	broad.mit.edu	37	5	135283183	135283183	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:135283183A>T	uc003lbe.1	-	3	494	c.293T>A	c.(292-294)tTt>tAt	p.F98Y	FBXL21_uc003lbc.3_Intron	NM_002302	NP_002293	O14960	LECT2_HUMAN	Homo sapiens leukocyte cell-derived chemotaxin 2 (LECT2), mRNA.	98					chemotaxis|skeletal system development	cytoplasm|extracellular space				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTTGACACAAAAACCTAAAAG	0.274000														26			10		0	0	0.000978	0	0
CACNA1C	775	broad.mit.edu	37	12	2797694	2797694	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:2797694C>T	uc009zdu.1	+	48	6428	c.6115C>T	c.(6115-6117)Cca>Tca	p.P2039S	CACNA1C_uc001qkc.2_Missense_Mutation_p.P1975S|CACNA1C_uc001qjz.2_Missense_Mutation_p.P1956S|CACNA1C_uc001qkd.2_Missense_Mutation_p.P1975S|CACNA1C_uc001qke.2_Missense_Mutation_p.P1945S|CACNA1C_uc001qkf.2_Missense_Mutation_p.P1964S|CACNA1C_uc009zdw.1_Missense_Mutation_p.P1997S|CACNA1C_uc001qkg.2_Missense_Mutation_p.P1962S|CACNA1C_uc001qkh.2_Missense_Mutation_p.P1964S|CACNA1C_uc001qkl.2_Missense_Mutation_p.P2004S|CACNA1C_uc001qkj.2_Missense_Mutation_p.P1991S|CACNA1C_uc001qkk.2_Missense_Mutation_p.P1956S|CACNA1C_uc001qkn.2_Missense_Mutation_p.P1956S|CACNA1C_uc001qkm.2_Missense_Mutation_p.P2016S|CACNA1C_uc001qko.2_Missense_Mutation_p.P1976S|CACNA1C_uc001qkp.2_Missense_Mutation_p.P1956S|CACNA1C_uc001qkq.2_Missense_Mutation_p.P1984S|CACNA1C_uc001qku.2_Missense_Mutation_p.P1991S|CACNA1C_uc001qkr.2_Missense_Mutation_p.P1973S|CACNA1C_uc001qks.2_Missense_Mutation_p.P1956S|CACNA1C_uc001qkt.2_Missense_Mutation_p.P1975S|CACNA1C_uc009zdv.1_Missense_Mutation_p.P1953S|CACNA1C_uc001qkb.2_Missense_Mutation_p.P1956S|CACNA1C_uc001qki.1_Missense_Mutation_p.P1763S|CACNA1C_uc010sea.1_Missense_Mutation_p.P647S|AK093746_uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.P274S	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	2039					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)	TGCCACCCCACCAGCCACACC	0.647000														57			36		0	0	0.004878	0	0
PHLDB2	90102	broad.mit.edu	37	3	111632494	111632494	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:111632494C>T	uc010hqa.3	+	2	2075	c.1664C>T	c.(1663-1665)tCc>tTc	p.S555F	PHLDB2_uc003dyc.3_Missense_Mutation_p.S582F|PHLDB2_uc003dyd.3_Missense_Mutation_p.S555F|PHLDB2_uc003dyg.3_Missense_Mutation_p.S555F|PHLDB2_uc003dyh.3_Missense_Mutation_p.S555F|PHLDB2_uc003dyi.3_Missense_Mutation_p.S141F|PHLDB2_uc003dyf.4_Missense_Mutation_p.S555F	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	555						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CCACCACCATCCTCCACCTTT	0.512000														171			73		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	14	106994065	106994065	+	RNA	SNP	C	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:106994065C>A	uc021ser.1	-	233		c.9189G>T								Parts of antibodies, mostly variable regions.																		AGGGACCCCCCAGGCTGTACC	0.582000														90			44		3.48956e-15	4.00747e-15	0.003610	1	0
PKHD1	5314	broad.mit.edu	37	6	51918901	51918901	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:51918901G>A	uc003pah.1	-	19	2175	c.1899C>T	c.(1897-1899)atC>atT	p.I633I	PKHD1_uc003pai.3_Silent_p.I633I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	633					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTTGAAAGCCGATTGTGAAGG	0.478000														39			19		0	0	0.007413	0	0
BCL6B	255877	broad.mit.edu	37	17	6930094	6930095	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:6930094_6930095CC>TT	uc010clt.1	+	6	1187_1188	c.1125_1126CC>TT	c.(1123-1128)agccgc>agTTgc	p.R376C	BCL6B_uc002geg.2_Missense_Mutation_p.R376C	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA.	376						nucleus	zinc ion binding			skin(1)	1						AAACGCACAGCCGCATCCATTC	0.569000														49			40		0	0	0.004672	0	0
EIF2A	83939	broad.mit.edu	37	3	150264610	150264610	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:150264610C>T	uc003eya.3	+	0	37	c.21C>T	c.(19-21)ctC>ctT	p.L7L	SERP1_uc003exy.3_5'UTR|SERP1_uc003exz.3_Non-coding_Transcript|EIF2A_uc003eyb.3_5'UTR|EIF2A_uc003eyc.3_5'UTR|EIF2A_uc011bnv.2_Silent_p.L7L|EIF2A_uc011bnw.2_Silent_p.L7L	NM_032025	NP_114414	Q9BY44	EIF2A_HUMAN	Homo sapiens eukaryotic translation initiation factor 2A, 65kDa (EIF2A), mRNA.	7				L -> F (in Ref. 4; AAQ13612).	regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|tRNA binding|translation initiation factor activity			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CCACGCCGCTCTTGACAGGTG	0.562000														70			34		0	0	0.005524	0	0
RIMS3	9783	broad.mit.edu	37	1	41107542	41107542	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:41107542C>T	uc001cfu.1	-	2	521	c.56G>A	c.(55-57)cGg>cAg	p.R19Q	RIMS3_uc001cfv.1_Missense_Mutation_p.R19Q	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 3 (RIMS3), mRNA.	19					neurotransmitter transport	cell junction|synapse		p.R19W(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			GCTGGAGCTCCGCACCACATT	0.667000														44			18		0	0	0.007413	0	0
TMEM145	284339	broad.mit.edu	37	19	42818443	42818443	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:42818443G>A	uc002otk.1	+	1	192	c.140G>A	c.(139-141)aGa>aAa	p.R47K		NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	Homo sapiens transmembrane protein 145 (TMEM145), mRNA.	47						integral to membrane		p.R47K(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				TTCCTGACAAGATTTTGTTTC	0.542000														96			50		0	0	0.003610	0	0
CNTN6	27255	broad.mit.edu	37	3	1424693	1424693	+	Missense_Mutation	SNP	C	T	T	rs147805325	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:1424693C>T	uc003boz.3	+	17	2501	c.2234C>T	c.(2233-2235)tCg>tTg	p.S745L	CNTN6_uc011asj.2_Missense_Mutation_p.S673L|CNTN6_uc003bpa.3_Missense_Mutation_p.S745L	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	745	Fibronectin type-III 2.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CCAGTGGGCTCGACAACCTGG	0.448000														47			26		0	0	0.004656	0	0
BAG4	9530	broad.mit.edu	37	8	38067760	38067760	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:38067760A>G	uc003xky.2	+	4	1405	c.1123A>G	c.(1123-1125)Agt>Ggt	p.S375G	BAG4_uc003xkz.2_Missense_Mutation_p.S339G	NM_004874	NP_004865	O95429	BAG4_HUMAN	Homo sapiens BCL2-associated athanogene 4 (BAG4), transcript variant 1, mRNA.	375					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TTCAGATGAAAGTACTCCTCC	0.408000														45			15		0	0	0.004007	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900427	151900427	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:151900427C>T	uc022chj.1	-	0	374	c.374G>A	c.(373-375)cGa>cAa	p.R125Q	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Missense_Mutation_p.R125Q|MAGEA12_uc022chi.1_Missense_Mutation_p.R125Q|MAGEA12_uc004fgc.3_Missense_Mutation_p.R125Q|CSAG1_uc004fge.3_5'Flank|CSAG1_uc004fgf.3_5'Flank|CSAG1_uc004fgd.3_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	125	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCCTGGCTCGATACTTGAG	0.502000														21			39		0	0	0.009718	0	0
TPTE	7179	broad.mit.edu	37	21	10908892	10908892	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:10908892G>A	uc002yip.1	-	22	1821	c.1453C>T	c.(1453-1455)Ctt>Ttt	p.L485F	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.L467F|TPTE_uc002yir.1_Missense_Mutation_p.L447F|TPTE_uc010gkv.1_Missense_Mutation_p.L347F	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	485	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L467I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TATGTAGGAAGATTCTAAAAA	0.269000														40			4		0	0	0.000602	0	0
PTK2B	2185	broad.mit.edu	37	8	27278190	27278190	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:27278190C>T	uc003xfn.2	+	8	1208	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	PTK2B_uc022ate.1_Missense_Mutation_p.R134C|PTK2B_uc003xfp.2_Missense_Mutation_p.R134C|PTK2B_uc003xfq.2_Missense_Mutation_p.R134C	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	134	FERM.				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)		CCTTCAAATCCGCTACTTGCC	0.493000														75			32		0	0	0.006230	0	0
OR6K6	128371	broad.mit.edu	37	1	158725526	158725526	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:158725526C>T	uc001fsw.1	+	0	921	c.921C>T	c.(919-921)atC>atT	p.I307I		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CTTTTGTTATCCTTGCTCCCT	0.438000														59			17		0	0	0.004990	0	0
TMEM205	374882	broad.mit.edu	37	19	11453736	11453737	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:11453736_11453737GG>AA	uc002mra.2	-	3	631_632	c.324_325CC>TT	c.(322-327)ccccgc>ccTTgc	p.R109C	TMEM205_uc002mrb.2_Missense_Mutation_p.R109C|TMEM205_uc002mqz.2_Missense_Mutation_p.R109C	NM_033408	NP_940938	Q6UW68	TM205_HUMAN	Homo sapiens transmembrane protein 205 (TMEM205), transcript variant 2, mRNA.	109						integral to membrane				endometrium(1)|lung(1)	2						GCTGTGGTGCGGGGTTCCAGCC	0.653000														59			22		0	0	0.004672	0	0
CDH7	1005	broad.mit.edu	37	18	63547807	63547807	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:63547807G>A	uc002lkb.3	+	11	2461	c.2035G>A	c.(2035-2037)Gac>Aac	p.D679N	CDH7_uc002ljz.3_Missense_Mutation_p.D679N	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	679					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CGTCATCCGAGACACCAAGAC	0.473000														38			20		0	0	0.008871	0	0
DNAH10	196385	broad.mit.edu	37	12	124305258	124305258	+	Missense_Mutation	SNP	G	A	A	rs142727450	by1000genomes	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:124305258G>A	uc001uft.4	+	22	3803	c.3778G>A	c.(3778-3780)Gaa>Aaa	p.E1260K		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1260	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGTGCAGAAGGAAATGAGTGG	0.483000														83			32		0	0	0.006230	0	0
TBX19	9095	broad.mit.edu	37	1	168282184	168282184	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:168282184G>A	uc001gfl.3	+	7	1342	c.1291G>A	c.(1291-1293)Ggc>Agc	p.G431S	TBX19_uc001gfj.4_Missense_Mutation_p.G299S|TBX19_uc001gfm.3_Missense_Mutation_p.G134S	NM_005149	NP_005140	O60806	TBX19_HUMAN	Homo sapiens T-box 19 (TBX19), mRNA.	431					anatomical structure morphogenesis	nucleus	DNA binding	p.A430A(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TCCCTTCGCGGGCTGGGGTGG	0.617000														41			6		0	0	0.004482	0	0
UBC	7316	broad.mit.edu	37	12	125397113	125397113	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:125397113G>A	uc001ugs.4	-	1	1663	c.1205C>T	c.(1204-1206)aCc>aTc	p.T402I	UBC_uc001ugr.3_Intron|UBC_uc001ugt.3_Intron|UBC_uc001ugu.1_Intron|UBC_uc001ugv.3_Intron|UBC_uc021rge.1_Missense_Mutation_p.T402I	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	402	Ubiquitin-like 6.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		ATTCTCAATGGTGTCACTCGG	0.542000														166			78		0	0	0.003610	0	0
TIMD4	91937	broad.mit.edu	37	5	156378700	156378700	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:156378700G>A	uc003lwh.2	-	2	559	c.502C>T	c.(502-504)Cca>Tca	p.P168S	TIMD4_uc010jii.2_Missense_Mutation_p.P168S	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	168	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACTGTTGTTGGAAGTGCAGCT	0.527000														596			268		0	0	0.003610	0	0
ATF4	468	broad.mit.edu	37	22	39918324	39918324	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:39918324C>T	uc003axz.3	+	2	1053	c.773C>T	c.(772-774)cCc>cTc	p.P258L	ATF4_uc011aol.1_Missense_Mutation_p.P170L|ATF4_uc003aya.3_Missense_Mutation_p.P258L	NM_182810	NP_877962	P18848	ATF4_HUMAN	Homo sapiens activating transcription factor 4 (tax-responsive enhancer element B67) (ATF4), transcript variant 2, mRNA.	258			P -> A (in dbSNP:rs1803323).		cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					TCTGCCCGTCCCAAACCTTAC	0.517000														23			9		0	0	0.001368	0	0
CCDC39	339829	broad.mit.edu	37	3	180359902	180359902	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:180359902G>A	uc010hxe.3	-	12	1868	c.1753C>T	c.(1753-1755)Cta>Tta	p.L585L	CCDC39_uc003fkn.3_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	585					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)			CTTTTTTCTAGGGAAAGAACT	0.353000														48			16		0	0	0.003163	0	0
DIP2C	22982	broad.mit.edu	37	10	430065	430065	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:430065G>A	uc001ifp.3	-	15	1868	c.1778C>T	c.(1777-1779)tCg>tTg	p.S593L	DIP2C_uc009xhj.1_Missense_Mutation_p.S289L	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	593						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CATATCCCTCGATTTCACACA	0.463000														41			20		0	0	0.001882	0	0
ECT2L	345930	broad.mit.edu	37	6	139165564	139165564	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:139165564T>C	uc003qif.2	+	6	936	c.611T>C	c.(610-612)gTt>gCt	p.V204A	ECT2L_uc021zfx.1_Missense_Mutation_p.V204A|ECT2L_uc011edq.1_Missense_Mutation_p.V135A	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.	204					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TTATTCAAAGTTCGACCCCCT	0.488000			"""N, Splice, Mis"""		ETP ALL									75			15		0	0	0.004007	0	0
DPP10	57628	broad.mit.edu	37	2	116447276	116447276	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:116447276C>T	uc002tle.3	+	5	488	c.467C>T	c.(466-468)tCg>tTg	p.S156L	DPP10_uc002tla.2_Missense_Mutation_p.S152L|DPP10_uc002tlb.2_Missense_Mutation_p.S102L|DPP10_uc002tlc.2_Missense_Mutation_p.S148L|DPP10_uc002tlf.2_Missense_Mutation_p.S145L	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	152					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.S145L(2)|p.S152L(2)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTTCATTATTCGTATACTGCT	0.264000														11			6		0	0	0.001168	0	0
CSNK2A1	1457	broad.mit.edu	37	11	11374442	11374442	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:11374442C>T	uc001mjp.3	-	0	463	c.225G>A	c.(223-225)aaG>aaA	p.K75K	GALNTL4_uc001mjo.2_Intron	NM_177559	NP_808227	P68400	CSK21_HUMAN	Homo sapiens casein kinase 2, alpha 1 polypeptide (CSNK2A1), transcript variant 1, mRNA.	75	Protein kinase.				Wnt receptor signaling pathway|axon guidance	NuRD complex|Sin3 complex|cytosol|plasma membrane	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TAATTTTCTTCTTTTTTACTG	0.363000														54			46		0	0	0.003610	0	0
FLI1	2313	broad.mit.edu	37	11	128677124	128677124	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:128677124G>A	uc010sbu.2	+	6	1114	c.771G>A	c.(769-771)cgG>cgA	p.R257R	FLI1_uc010sbt.2_Silent_p.R64R|FLI1_uc010sbv.2_Silent_p.R224R|FLI1_uc009zci.3_Silent_p.R191R	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	257					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CAGAGCAACGGCCCCAGCCAG	0.512000			T	EWSR1	Ewing sarcoma									12			5		0	0	0.001984	0	0
LPHN3	23284	broad.mit.edu	37	4	62813953	62813953	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:62813953C>T	uc010ihh.3	+	13	2733	c.2560C>T	c.(2560-2562)Cta>Tta	p.L854L	LPHN3_uc003hcq.4_Silent_p.L854L|LPHN3_uc003hct.3_Silent_p.L247L	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	841					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTGTAACCACCTAACAAATTT	0.373000														20			12		0	0	0.001855	0	0
SCN10A	6336	broad.mit.edu	37	3	38770081	38770081	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:38770081G>A	uc003ciq.3	-	14	2592	c.2592C>T	c.(2590-2592)tcC>tcT	p.S864S		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	864					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGAGGCATATGGATTTTTGGC	0.522000														52			13		0	0	0.001368	0	0
BPIFB2	80341	broad.mit.edu	37	20	31607401	31607401	+	Missense_Mutation	SNP	C	T	T	rs150536106		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:31607401C>T	uc002wyj.3	+	10	1119	c.925C>T	c.(925-927)Ccc>Tcc	p.P309S		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	309						extracellular region	lipid binding	p.P309S(1)									CCGCCAGTTTCCCGAGCCCAT	0.667000														14			6		0	0	0.004482	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664489	169664489	+	RNA	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:169664489C>T	uc011bpp.2	-	1		c.3314G>A								Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA.																		CATACTTTTTCCTCTGCAAGG	0.522000														36			15		0	0	0.003163	0	0
DNAH8	1769	broad.mit.edu	37	6	38877410	38877410	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:38877410C>T	uc021yzh.1	+	64	9739	c.9630C>T	c.(9628-9630)ttC>ttT	p.F3210F	DNAH8_uc003ooe.2_Silent_p.F2993F|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTCCTACTTCCTTTCAGACT	0.448000														59			23		0	0	0.002780	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49327652	49327652	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:49327652G>A	uc001zxe.2	-	2	671	c.407C>T	c.(406-408)gCt>gTt	p.A136V	SECISBP2L_uc001zxd.2_Missense_Mutation_p.A136V|SECISBP2L_uc010bep.2_Splice_Site|SECISBP2L_uc010beq.2_Missense_Mutation_p.A136V	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN	Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.	136										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						AGTATTTGCAGCCTGAAAGGT	0.458000														58			10		0	0	0.008291	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033984	52033984	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:52033984G>A	uc002pwy.3	-	2	865	c.657C>T	c.(655-657)ttC>ttT	p.F219F	SIGLEC6_uc002pwz.3_Silent_p.F219F|SIGLEC6_uc010ydb.2_Silent_p.F183F|SIGLEC6_uc010ydc.2_Silent_p.F219F|SIGLEC6_uc002pxa.3_Silent_p.F219F|SIGLEC6_uc010eoz.2_Silent_p.F208F|SIGLEC6_uc010epa.2_Silent_p.F208F|SIGLEC6_uc010epb.2_Silent_p.F172F	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	219	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CGGCTCCAGGGAACGTCACCT	0.667000														66			39		0	0	0.008740	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687360	27687360	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:27687360G>A	uc001itu.2	-	3	2285	c.2167C>T	c.(2167-2169)Cct>Tct	p.P723S		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	723					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						AAAAAATCAGGAATATTGTTC	0.299000														30			19		0	0	0.007413	0	0
C12orf40	283461	broad.mit.edu	37	12	40115044	40115044	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:40115044G>A	uc001rmc.3	+	12	2117	c.1950G>A	c.(1948-1950)aaG>aaA	p.K650K	C12orf40_uc009zjv.1_Intron	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	650										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AAATCCATAAGAACAACTAAT	0.333000														33			10		0	0	0.008291	0	0
FOXN1	8456	broad.mit.edu	37	17	26856216	26856216	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:26856216C>T	uc010crm.3	+	4	1002	c.804C>T	c.(802-804)ctC>ctT	p.L268L	FOXN1_uc002hbj.3_Silent_p.L268L	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	268					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					ACCAGCCTCTCTTCCCAAAAC	0.597000														58			48		0	0	0.003610	0	0
TRIM2	23321	broad.mit.edu	37	4	154191564	154191564	+	Silent	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:154191564A>G	uc003inh.2	+	1	193	c.108A>G	c.(106-108)ccA>ccG	p.P36P	TRIM2_uc003ing.2_Silent_p.P9P|TRIM2_uc003ini.1_Silent_p.P27P	NM_015271	NP_056086	Q9C040	TRIM2_HUMAN	Homo sapiens tripartite motif containing 2 (TRIM2), transcript variant 1, mRNA.	9						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CCAACATCCCAAGTCCTGTGG	0.522000														59			26		0	0	0.003330	0	0
LARGE	9215	broad.mit.edu	37	22	34046453	34046453	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:34046453G>A	uc003and.4	-	3	887	c.308C>T	c.(307-309)tCc>tTc	p.S103F	LARGE_uc003ane.4_Missense_Mutation_p.S103F|LARGE_uc010gwp.3_Missense_Mutation_p.S103F|LARGE_uc011ame.2_Missense_Mutation_p.S35F|LARGE_uc011amf.2_Missense_Mutation_p.S103F	NM_004737	NP_598397	O95461	LARGE_HUMAN	Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA.	103					N-acetylglucosamine metabolic process|glycosphingolipid biosynthetic process|muscle cell homeostasis|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CTCCTCCATGGAGTAGGTCTT	0.672000														62			30		0	0	0.002445	0	0
ESRRB	2103	broad.mit.edu	37	14	76964656	76964656	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:76964656C>T	uc001xsr.3	+	8	1528	c.1157C>T	c.(1156-1158)cCc>cTc	p.P386L	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.P386L	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	386						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.P386L(3)		endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CATGAGGAGCCCTGGAGGACG	0.617000														18			8		0	0	0.003080	0	0
SLC35F3	148641	broad.mit.edu	37	1	234455868	234455868	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:234455868G>A	uc001hvy.1	+	6	1317	c.1172G>A	c.(1171-1173)gGa>gAa	p.G391E	SLC35F3_uc001hwa.1_Missense_Mutation_p.G322E	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	322					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TTAAATTTTGGAATTGCCGTT	0.403000														43			12		0	0	0.000978	0	0
KCNH5	27133	broad.mit.edu	37	14	63175075	63175075	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:63175075G>A	uc001xfx.3	-	10	2169	c.2118C>T	c.(2116-2118)gtC>gtT	p.V706V	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	706	Calmodulin-binding (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGAGCTTTCTGACTGGGTGGT	0.542000														118			39		0	0	0.003214	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139884528	139884528	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:139884528C>T	uc003lfs.2	+	15	3281	c.3127C>T	c.(3127-3129)Cct>Tct	p.P1043S	ANKHD1-EIF4EBP3_uc003lfq.2_Missense_Mutation_p.P1062S|ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.P1043S|ANKHD1-EIF4EBP3_uc003lft.1_Missense_Mutation_p.P254S|ANKHD1-EIF4EBP3_uc003lfu.1_Missense_Mutation_p.P523S|ANKHD1-EIF4EBP3_uc003lfv.1_Missense_Mutation_p.P120S	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1043						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGTGTATCCTTCAGTTGA	0.393000														73			26		0	0	0.006320	0	0
TJP3	27134	broad.mit.edu	37	19	3747981	3747981	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:3747981C>T	uc010xhv.2	+	17	2611	c.2611C>T	c.(2611-2613)Ccg>Tcg	p.P871S	TJP3_uc010xhs.2_Missense_Mutation_p.P838S|TJP3_uc010xht.2_Missense_Mutation_p.P802S|TJP3_uc010xhu.2_Missense_Mutation_p.P847S|TJP3_uc010xhw.2_Missense_Mutation_p.P857S	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	852						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATGAGCCCCCGGCTCCAGC	0.697000														10			7		0	0	0.004482	0	0
XYLB	9942	broad.mit.edu	37	3	38414185	38414185	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:38414185C>T	uc003cic.2	+	9	914	c.805C>T	c.(805-807)Cct>Tct	p.P269S	XYLB_uc011ayp.1_Missense_Mutation_p.P132S|XYLB_uc003cid.1_Missense_Mutation_p.P191S	NM_005108	NP_005099	O75191	XYLB_HUMAN	Homo sapiens xylulokinase homolog (H. influenzae) (XYLB), mRNA.	269					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		CTACGGATTTCCTCCAGGATG	0.567000														42			24		0	0	0.005443	0	0
PAAF1	80227	broad.mit.edu	37	11	73620606	73620606	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:73620606C>T	uc001ouk.1	+	6	729	c.695C>T	c.(694-696)tCc>tTc	p.S232F	PAAF1_uc001oul.1_Missense_Mutation_p.S215F|PAAF1_uc001oum.1_Missense_Mutation_p.S215F	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN	Homo sapiens proteasomal ATPase-associated factor 1 (PAAF1), mRNA.	232					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					GCTGACAACTCCATAAACCTT	0.488000														46			38		0	0	0.009718	0	0
TTN	7273	broad.mit.edu	37	2	179466620	179466620	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179466620C>T	uc021vsy.1	-	233	47812	c.47587G>A	c.(47587-47589)Gaa>Aaa	p.E15863K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E9558K|TTN_uc021vta.1_Missense_Mutation_p.E9491K|TTN_uc021vtb.1_Missense_Mutation_p.E9366K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16790	Fibronectin type-III 15.						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)			TGTGCATCTTCGGGTATGTCA	0.303000														26			23		0	0	0.001882	0	0
OR1J2	26740	broad.mit.edu	37	9	125273643	125273643	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:125273643C>T	uc011lyv.2	+	0	563	c.563C>T	c.(562-564)tCc>tTc	p.S188F	OR1J2_uc004bmj.2_Missense_Mutation_p.S188F	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CTCAAGCTGTCCTGCTCAGAT	0.522000														39			29		0	0	0.006320	0	0
NOS1	4842	broad.mit.edu	37	12	117768658	117768659	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:117768658_117768659CC>TT	uc001twn.2	-	1	927_928	c.216_217GG>AA	c.(214-219)ttggtg>ttAAtg	p.V73M	NOS1_uc001twm.2_Missense_Mutation_p.V73M	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	73	Interaction with NOSIP (By similarity).|PDZ.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.L72S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTCAGGTCCACCAAGGGCCGGC	0.619000														12			20		0	0	0.004672	0	0
BCAS3	54828	broad.mit.edu	37	17	58988023	58988023	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:58988023T>G	uc002iyv.4	+	11	1062	c.953T>G	c.(952-954)aTc>aGc	p.I318S	BCAS3_uc010wow.1_Missense_Mutation_p.I105S|BCAS3_uc002iyu.4_Missense_Mutation_p.I318S|BCAS3_uc002iyw.4_Missense_Mutation_p.I314S|BCAS3_uc002iyx.1_Missense_Mutation_p.I133S|BCAS3_uc002iyy.4_Missense_Mutation_p.I89S	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	318						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GTCCCAGGCATCATCACAGTT	0.493000														74			11		0	0	0.003163	0	0
RASGRP2	10235	broad.mit.edu	37	11	64496379	64496379	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:64496379C>T	uc009ypu.3	-	14	1954	c.1727G>A	c.(1726-1728)aGc>aAc	p.S576N	RASGRP2_uc001oat.3_Missense_Mutation_p.S478N|RASGRP2_uc001oau.3_Missense_Mutation_p.S431N|RASGRP2_uc009ypv.3_Missense_Mutation_p.S576N|RASGRP2_uc009ypw.3_Missense_Mutation_p.S576N	NM_001098671	NP_722541	Q7LDG7	GRP2_HUMAN	Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA.	576					Ras protein signal transduction|platelet activation|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGAGAGAAGCTGAAGGCGCG	0.652000														29			4		0	0	0.009096	0	0
NMBR	4829	broad.mit.edu	37	6	142399727	142399727	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:142399727G>A	uc003qiu.3	-	1	877	c.736C>T	c.(736-738)Ctt>Ttt	p.L246F		NM_002511	NP_002502	P28336	NMBR_HUMAN	Homo sapiens neuromedin B receptor (NMBR), mRNA.	246					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TCTCCAGGAAGATTGTGTGCG	0.353000														33			9		0	0	0.004482	0	0
TMEM163	81615	broad.mit.edu	37	2	135470837	135470837	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:135470837C>T	uc002ttx.3	-	1	321	c.255G>A	c.(253-255)agG>agA	p.R85R	TMEM163_uc002tty.3_Non-coding_Transcript	NM_030923	NP_112185	Q8TC26	TM163_HUMAN	Homo sapiens transmembrane protein 163 (TMEM163), mRNA.	85						integral to membrane				endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		ATGCCTTCTTCCTGTAGTTCT	0.502000														88			53		0	0	0.003610	0	0
COL5A2	1290	broad.mit.edu	37	2	189901516	189901516	+	Silent	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:189901516A>G	uc002uqk.3	-	51	4214	c.3939T>C	c.(3937-3939)atT>atC	p.I1313I	COL5A2_uc010frx.3_Silent_p.I889I	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1313	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.I1313V(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGTTAGGATCAATCCAGTATT	0.338000														16			10		0	0	0.001368	0	0
ENTPD5	957	broad.mit.edu	37	14	74444066	74444066	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:74444066G>A	uc010tuo.2	-	6	764	c.453C>T	c.(451-453)atC>atT	p.I151I	ENTPD5_uc001xpi.3_Silent_p.I151I	NM_001249	NP_001240	O75356	ENTP5_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 5 (ENTPD5), mRNA.	151					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		ACTTCCTGAAGATCTCCTTTA	0.413000														39			14		0	0	0.002450	0	0
CDC14C	168448	broad.mit.edu	37	7	48965439	48965439	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:48965439G>A	uc010kyv.1	+	0	1283	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		TGATGACGACGAAATCAATGG	0.463000														13			6		0	0	0.001168	0	0
CASP14	23581	broad.mit.edu	37	19	15164410	15164410	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:15164410G>A	uc010dzv.2	+	2	357	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K		NM_012114	NP_036246	P31944	CASPE_HUMAN	Homo sapiens caspase 14, apoptosis-related cysteine peptidase (CASP14), mRNA.	49					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						GCTGAGATTCGAAAGCACCAT	0.552000														76			25		0	0	0.003954	0	0
GCM1	8521	broad.mit.edu	37	6	53010427	53010427	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:53010427C>T	uc003pbp.3	-	1	213	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	GCM1_uc010jzr.2_Missense_Mutation_p.E2K	NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	Homo sapiens glial cells missing homolog 1 (Drosophila) (GCM1), mRNA.	2						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TCGTCAGGTTCCATGATAAGG	0.413000														49			24		0	0	0.003330	0	0
DDX11L9	100288486	broad.mit.edu	37	1	13418	13418	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:13418G>A	uc010nxq.1	+	2	497	c.181G>A	c.(181-183)Gag>Aag	p.E61K	DDX11L9_uc001aaa.3_Non-coding_Transcript|DDX11L9_uc010nxr.1_Non-coding_Transcript					SubName: Full=DEAD/H box polypeptide 11 like 9;																		CCACCACCCCGAGATCACATT	0.562000														20			7		0	0	0.008291	0	0
IQSEC1	9922	broad.mit.edu	37	3	12954973	12954973	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:12954973G>A	uc003bxt.2	-	8	2322	c.2313C>T	c.(2311-2313)ctC>ctT	p.L771L	IQSEC1_uc003bxu.3_Silent_p.L649L|IQSEC1_uc011auw.1_Silent_p.L757L	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.	771					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGTGTAGTCCGAGTTTCTGGG	0.582000														22			9		0	0	0.004482	0	0
CHD5	26038	broad.mit.edu	37	1	6204202	6204202	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:6204202C>T	uc001amb.2	-	11	1927	c.1816G>A	c.(1816-1818)Ggg>Agg	p.G606R	CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	606	Chromo 2.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGCACATCCCCCTTCTTGTCA	0.552000														68			30		0	0	0.002096	0	0
PLCE1	51196	broad.mit.edu	37	10	96073108	96073108	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:96073108G>A	uc001kjk.3	+	27	6735	c.6101G>A	c.(6100-6102)gGa>gAa	p.G2034E	PLCE1_uc010qnx.2_Missense_Mutation_p.G2018E|PLCE1_uc001kjm.3_Missense_Mutation_p.G1726E|PLCE1_uc001kjp.3_Missense_Mutation_p.G392E	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	2034	Ras-associating 1.				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity	p.G2034E(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACTATTAATGGAGGCACCAAG	0.453000														68			41		0	0	0.003214	0	0
RGL1	23179	broad.mit.edu	37	1	183885623	183885623	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:183885623G>A	uc001gqm.3	+	16	2358	c.1897G>A	c.(1897-1899)Gac>Aac	p.D633N	RGL1_uc010pog.2_Missense_Mutation_p.D596N|RGL1_uc010poh.2_Missense_Mutation_p.D596N|RGL1_uc001gqo.3_Missense_Mutation_p.D598N|RGL1_uc010poi.2_Missense_Mutation_p.D569N	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	598					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CCATTCCATGGACACAAATTC	0.502000														102			28		0	0	0.005443	0	0
ZC3H12D	340152	broad.mit.edu	37	6	149795631	149795631	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:149795631G>A	uc010kid.3	-	1	319	c.49C>T	c.(49-51)Cgg>Tgg	p.R17W	ZC3H12D_uc003qmn.1_Missense_Mutation_p.R17W	NM_207360	NP_997243	A2A288	ZC12D_HUMAN	Homo sapiens zinc finger CCCH-type containing 12D (ZC3H12D), mRNA.	17						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		ACATCCTCCCGGTCATAGCCC	0.667000														12			6		0	0	0.001984	0	0
PGD	5226	broad.mit.edu	37	1	10460543	10460543	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:10460543G>A	uc001arc.3	+	2	268	c.178G>A	c.(178-180)Gag>Aag	p.E60K	PGD_uc010oak.2_Missense_Mutation_p.E60K	NM_002631	NP_002622	P52209	6PGD_HUMAN	Homo sapiens phosphogluconate dehydrogenase (PGD), mRNA.	60					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		GTCCCTGAAAGAGATGGTCTC	0.512000														56			35		0	0	0.003755	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724061	7724061	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:7724061C>T	uc001aoi.3	+	8	1661	c.1454C>T	c.(1453-1455)cCc>cTc	p.P485L		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AACTTTGACCCCGACTGTTTC	0.602000			T	WWTR1	epitheliod hemangioendothelioma									63			34		0	0	0.004289	0	0
CTRC	11330	broad.mit.edu	37	1	15772186	15772186	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:15772186C>T	uc001awi.1	+	6	757	c.734C>T	c.(733-735)aCc>aTc	p.T245I	CTRC_uc001awj.1_Silent_p.H196H	NM_007272	NP_009203	Q99895	CTRC_HUMAN	Homo sapiens chymotrypsin C (caldecrin) (CTRC), mRNA.	245	Peptidase S1.				proteolysis		serine-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTGCAACACCCGCAAGAAG	0.642000														75			35		0	0	0.006999	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324223	79324223	+	Silent	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:79324223T>C	uc010mpk.3	-	7	3091	c.2967A>G	c.(2965-2967)ccA>ccG	p.P989P	PRUNE2_uc022bih.1_Silent_p.P811P	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	989					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTTTAGCAAATGGCTTGTGTT	0.448000														24			23		0	0	0.001882	0	0
XIRP2	129446	broad.mit.edu	37	2	168102837	168102837	+	Silent	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:168102837T>C	uc002udx.3	+	8	5024	c.4935T>C	c.(4933-4935)acT>acC	p.T1645T	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.T1470T|XIRP2_uc010fpq.3_Silent_p.T1423T|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1470					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACAGATCAACTGAATTTCATG	0.323000														37			13		0	0	0.001855	0	0
SCN11A	11280	broad.mit.edu	37	3	38888386	38888386	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:38888386G>A	uc021wvy.1	-	25	5374	c.5175C>T	c.(5173-5175)gtC>gtT	p.V1725V		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1725					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGGTGGTGGTGACTATGGGTT	0.463000														154			6		0	0	0.001984	0	0
DNASE2	1777	broad.mit.edu	37	19	12991617	12991617	+	Splice_Site	SNP	C	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:12991617C>A	uc002mvn.1	-	3	492	c.346_splice	c.e3+1	p.G116_splice	DNASE2_uc010xmr.1_Splice_Site_p.G116_splice	NM_001375	NP_001366	O00115	DNS2A_HUMAN	Homo sapiens deoxyribonuclease II, lysosomal (DNASE2), mRNA.	116					apoptosis	lysosome	DNA binding|deoxyribonuclease II activity|protein binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						AGGCCTCACCCTTCGTGTGCC	0.607000														114			48		1.10885e-35	1.27977e-35	0.003610	1	0
GABRB1	2560	broad.mit.edu	37	4	47405379	47405379	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:47405379G>A	uc003gxh.3	+	5	963	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	GABRB1_uc011bze.2_Missense_Mutation_p.E127K	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	197					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GAATGGAGGAGAAGGGGCAGT	0.378000														41			11		0	0	0.000978	0	0
COLEC12	81035	broad.mit.edu	37	18	480727	480727	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:480727G>A	uc002kkm.3	-	1	253	c.38C>T	c.(37-39)tCc>tTc	p.S13F		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	13					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GTAACCGAAGGATTGCACCTC	0.552000														83			23		0	0	0.005443	0	0
PHEX	5251	broad.mit.edu	37	X	22117197	22117197	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:22117197C>T	uc004dah.3	+	8	1210	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F	PHEX_uc011mjr.2_Missense_Mutation_p.S336F|PHEX_uc011mjs.2_Missense_Mutation_p.S239F	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.	336					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						ATCAGCCCCTCCGAGAATGTG	0.453000														31			49		0	0	0.003610	0	0
DUSP7	1849	broad.mit.edu	37	3	52084953	52084953	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:52084953C>T	uc003dct.3	-	2	1217	c.1138G>A	c.(1138-1140)Gac>Aac	p.D380N		NM_001947	NP_001938	Q16829	DUS7_HUMAN	Homo sapiens dual specificity phosphatase 7 (DUSP7), mRNA.	380					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|inactivation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGCTCAAAGTCCAGCAGCTGC	0.552000														43			30		0	0	0.003755	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62604687	62604687	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:62604687G>A	uc003peg.2	-	5	910	c.663C>T	c.(661-663)ctC>ctT	p.L221L		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	221	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CCCGAGGGGTGAGAACACCTC	0.592000														28			18		0	0	0.004990	0	0
MDC1	9656	broad.mit.edu	37	6	30671853	30671853	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:30671853G>A	uc003nrg.4	-	9	5547	c.5107C>T	c.(5107-5109)Cct>Tct	p.P1703S	MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.P1310S	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1703	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GTGGTGACAGGAGATTGGAAT	0.567000								Other conserved DNA damage response genes						71			43		0	0	0.008740	0	0
TINAG	27283	broad.mit.edu	37	6	54173538	54173538	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:54173538G>A	uc003pcj.2	+	0	336	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	TINAG_uc003pci.3_Missense_Mutation_p.E64K|TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	64	SMB.				Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TGGCTGTTGTGAAGACAGAGA	0.428000														108			46		0	0	0.003610	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19698860	19698860	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:19698860C>T	uc002ykw.3	-	15	1841	c.1810G>A	c.(1810-1812)Gat>Aat	p.D604N		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	604	CUB 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GAGAACACATCCTTTACTGGG	0.443000														57			22		0	0	0.003330	0	0
TTN	7273	broad.mit.edu	37	2	179426315	179426315	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179426315C>T	uc021vsy.1	-	274	77065	c.76840G>A	c.(76840-76842)Gga>Aga	p.G25614R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G19309R|TTN_uc021vta.1_Missense_Mutation_p.G19242R|TTN_uc021vtb.1_Missense_Mutation_p.G19117R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26541	Fibronectin type-III 86.						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)			CGACTTCCTCCATCATTAACT	0.413000														35			8		0	0	0.003080	0	0
DPP10	57628	broad.mit.edu	37	2	116447454	116447454	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:116447454C>T	uc002tle.3	+	6	566	c.545C>T	c.(544-546)tCc>tTc	p.S182F	DPP10_uc002tla.2_Missense_Mutation_p.S178F|DPP10_uc002tlb.2_Missense_Mutation_p.S128F|DPP10_uc002tlc.2_Missense_Mutation_p.S174F|DPP10_uc002tlf.2_Missense_Mutation_p.S171F	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	178					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GTAGAGGACTCCGTCTTGCAG	0.443000														86			34		0	0	0.007835	0	0
KRT33B	3884	broad.mit.edu	37	17	39522757	39522757	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:39522757C>T	uc002hwl.3	-	2	598	c.553G>A	c.(553-555)Gag>Aag	p.E185K		NM_002279	NP_002270	Q14525	KT33B_HUMAN	Homo sapiens keratin 33B (KRT33B), mRNA.	185	Coil 1B.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				AGCAGCTCCTCCTTCAGGGAC	0.577000														47			8		0	0	0.004482	0	0
BMP1	649	broad.mit.edu	37	8	22065004	22065004	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:22065004G>A	uc003xbg.3	+	17	2816	c.2550G>A	c.(2548-2550)aaG>aaA	p.K850K	BMP1_uc011kzc.2_Silent_p.K599K|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	850	CUB 4.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TCCAGCGAAAGGGCTTCCAGG	0.622000														40			16		0	0	0.003163	0	0
PURA	5813	broad.mit.edu	37	5	139494086	139494086	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:139494086C>T	uc003lfa.3	+	0	379	c.320C>T	c.(319-321)gCc>gTc	p.A107V		NM_005859	NP_005850	Q00577	PURA_HUMAN	Homo sapiens purine-rich element binding protein A (PURA), mRNA.	107					DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTCAGTGGCCGTGGAGTTC	0.682000														16			4		0	0	0.009096	0	0
ITGB3	3690	broad.mit.edu	37	17	45364510	45364510	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:45364510G>A	uc002ilj.3	+	5	872	c.852G>A	c.(850-852)ttG>ttA	p.L284L	ITGB3_uc002ili.1_Silent_p.L284L|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.	284	VWFA.				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)	ATATAGCATTGGACGGAAGGC	0.463000														60			18		0	0	0.007413	0	0
ZNF432	9668	broad.mit.edu	37	19	52537010	52537010	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:52537010A>T	uc002pyk.3	-	4	2240	c.1922T>A	c.(1921-1923)aTt>aAt	p.I641N		NM_014650	NP_055465	O94892	ZN432_HUMAN	Homo sapiens zinc finger protein 432 (ZNF432), mRNA.	641					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CTGATGTACAATGAGATTTCT	0.403000														123			41		0	0	0.002522	0	0
C8B	732	broad.mit.edu	37	1	57406640	57406640	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:57406640A>C	uc001cyp.3	-	8	1347	c.1280T>G	c.(1279-1281)gTa>gGa	p.V427G	C8B_uc010oon.2_Missense_Mutation_p.V365G|C8B_uc010ooo.2_Missense_Mutation_p.V375G	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	427	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CCCTCCTCGTACCAGGACCAC	0.577000														27			14		0	0	0.004007	0	0
DPYS	1807	broad.mit.edu	37	8	105405031	105405031	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:105405031C>T	uc003yly.4	-	7	1553	c.1424G>A	c.(1423-1425)cGa>cAa	p.R475Q	DPYS_uc010mcf.1_Missense_Mutation_p.R45Q	NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	475					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTGCTTTATTCGTTTGTAAAT	0.473000														105			58		0	0	0.003610	0	0
SEC24D	9871	broad.mit.edu	37	4	119736191	119736191	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:119736191G>A	uc003ici.4	-	5	1065	c.793C>T	c.(793-795)Cct>Tct	p.P265S	SEC24D_uc003icj.4_Missense_Mutation_p.P266S|SEC24D_uc003icl.2_Non-coding_Transcript|SEC24D_uc010imz.1_Non-coding_Transcript|SEC24D_uc011cgg.1_Non-coding_Transcript	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	265	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding	p.P265R(1)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						ACTGGGCTAGGGATAGAGTCA	0.507000														106			20		0	0	0.002780	0	0
MYH1	4619	broad.mit.edu	37	17	10400388	10400388	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:10400388C>T	uc002gmo.3	-	32	4748	c.4654G>A	c.(4654-4656)Gag>Aag	p.E1552K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1552						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.A1551E(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						ATGCTTACCTCTGCCTCCTCT	0.368000														39			6		0	0	0.003080	0	0
KPRP	448834	broad.mit.edu	37	1	152733502	152733502	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:152733502C>T	uc001fal.1	+	1	1496	c.1438C>T	c.(1438-1440)Ccc>Tcc	p.P480S	KPRP_uc021ozf.1_Missense_Mutation_p.P480S	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	480	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGCCAATTCCCCTGCCGGC	0.657000														77			41		0	0	0.007835	0	0
CACNA1I	8911	broad.mit.edu	37	22	39966826	39966826	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:39966826G>A	uc003ayc.3	+	0	69	c.69G>A	c.(67-69)acG>acA	p.T23T	CACNA1I_uc003ayd.3_Silent_p.T23T	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	23					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GAGTCACCACGGAGCAGCCCG	0.692000														18			10		0	0	0.006214	0	0
PLCG1	5335	broad.mit.edu	37	20	39794189	39794189	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:39794189G>A	uc002xjp.1	+	14	1730	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K	PLCG1_uc002xjo.1_Missense_Mutation_p.E537K|PLCG1_uc010zwe.1_Missense_Mutation_p.E163K|PLCG1_uc010ggf.3_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	537					T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GGAGCCCAAGGAGGTGAGGAA	0.587000														17			19		0	0	0.006122	0	0
ILF3	3609	broad.mit.edu	37	19	10792728	10792729	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:10792728_10792729CC>TT	uc002mpn.3	+	11	1557_1558	c.1240_1241CC>TT	c.(1240-1242)cca>TTa	p.P414L	ILF3_uc010xli.1_Missense_Mutation_p.P12L|ILF3_uc002mpm.2_Missense_Mutation_p.P414L|ILF3_uc002mpl.2_Missense_Mutation_p.P414L|ILF3_uc002mpk.2_Missense_Mutation_p.P414L|ILF3_uc002mpo.3_Missense_Mutation_p.P414L|ILF3_uc002mpp.3_Missense_Mutation_p.P235L	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	414	DRBM 1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CCAGCTGAAGCCAGGGCTGCAG	0.574000														39			17		0	0	0.004672	0	0
SLC10A6	345274	broad.mit.edu	37	4	87770009	87770009	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:87770009G>A	uc003hqd.2	-	0	408	c.260C>T	c.(259-261)gCc>gTc	p.A87V		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA.	87						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		AAAGCTAATGGCCAGGAGATA	0.537000														30			16		0	0	0.004007	0	0
GSTM5	2949	broad.mit.edu	37	1	110256339	110256339	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:110256339G>A	uc001dyn.3	+	4	387	c.316G>A	c.(316-318)Gat>Aat	p.D106N	GSTM5_uc010ovu.1_Missense_Mutation_p.D65N	NM_000851	NP_000842	P46439	GSTM5_HUMAN	Homo sapiens glutathione S-transferase mu 5 (GSTM5), mRNA.	106	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	CCAGGTTATGGATAACCACAT	0.522000														16			14		0	0	0.004990	0	0
CSMD2	114784	broad.mit.edu	37	1	34092084	34092084	+	Splice_Site	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:34092084A>T	uc001bxm.1	-	33	5473	c.5296_splice	c.e33+1	p.A1766_splice	CSMD2_uc001bxn.1_Splice_Site_p.A1726_splice|CSMD2_uc001bxo.1_Splice_Site_p.A639_splice	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1726	Sushi 10.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGTCCTCCATACCTTGGTAGA	0.532000														17			7		0	0	0.004482	0	0
TAGAP	117289	broad.mit.edu	37	6	159461762	159461762	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:159461762G>A	uc003qrz.3	-	6	912	c.580C>T	c.(580-582)Ctg>Ttg	p.L194L	TAGAP_uc011eft.2_Silent_p.L131L|TAGAP_uc003qsa.3_Silent_p.L16L|TAGAP_uc003qsb.3_Silent_p.L194L	NM_054114	NP_687034	Q8N103	TAGAP_HUMAN	Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA.	194	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TACTGTTTCAGGGCCTCGATT	0.493000														49			20		0	0	0.004656	0	0
KLK1	3816	broad.mit.edu	37	19	51323241	51323241	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:51323241C>T	uc002ptk.1	-	3	586	c.547G>A	c.(547-549)Gat>Aat	p.D183N	KLK1_uc010ycg.1_Non-coding_Transcript	NM_002257	NP_002248	P06870	KLK1_HUMAN	Homo sapiens kallikrein 1 (KLK1), mRNA.	183	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGCACTCATCATTAGGCAGG	0.542000														31			19		0	0	0.010504	0	0
OR52I1	390037	broad.mit.edu	37	11	4615303	4615303	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:4615303C>T	uc010qyi.2	+	0	35	c.35C>T	c.(34-36)aCc>aTc	p.T12I		NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 1 (OR52I1), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAATGGAAACCCCTGCCTCC	0.473000														146			51		0	0	0.003610	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21358809	21358809	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:21358809C>T	uc001req.4	+	10	1443	c.1339C>T	c.(1339-1341)Cca>Tca	p.P447S		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	447					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CAGAAATAATCCAGTGACATC	0.368000														47			14		0	0	0.002450	0	0
CACNA1I	8911	broad.mit.edu	37	22	40080330	40080330	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:40080330G>A	uc003ayc.3	+	35	5854	c.5854G>A	c.(5854-5856)Gat>Aat	p.D1952N	CACNA1I_uc003ayd.3_Missense_Mutation_p.D1917N|CACNA1I_uc003aye.3_Missense_Mutation_p.D1867N|CACNA1I_uc003ayf.3_Missense_Mutation_p.D1832N	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1952					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	p.P1951S(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CTTCTCCCCGGATGCCTCCAG	0.637000														14			8		0	0	0.004482	0	0
TRAF7	84231	broad.mit.edu	37	16	2223226	2223226	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:2223226G>C	uc002cow.3	+	9	937	c.838G>C	c.(838-840)Gag>Cag	p.E280Q		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	Homo sapiens TNF receptor-associated factor 7 (TRAF7), mRNA.	280					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						GACCCACCTGGAGACTTGCCG	0.647000														9			6		0	0	0.001984	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20527462	20527462	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:20527462C>T	uc002wrz.3	-	23	3314	c.3171G>A	c.(3169-3171)acG>acA	p.T1057T	RALGAPA2_uc002wry.3_Silent_p.T672T|RALGAPA2_uc010zsg.2_Silent_p.T505T	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1057					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity	p.N1056K(1)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GCCTTATGATCGTATTTAAGA	0.443000														31			5		0	0	0.000602	0	0
METTL7B	196410	broad.mit.edu	37	12	56077639	56077639	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:56077639G>A	uc010spr.2	+	1	750	c.541G>A	c.(541-543)Gga>Aga	p.G181R		NM_152637	NP_689850	Q6UX53	MET7B_HUMAN	Homo sapiens methyltransferase like 7B (METTL7B), mRNA.	181							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						AGAACCATATGGAAGCTGGGC	0.542000														94			25		0	0	0.003954	0	0
ENTPD3	956	broad.mit.edu	37	3	40457387	40457388	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:40457387_40457388GG>AT	uc003ckd.4	+	6	746_747	c.654_655GG>AT	c.(652-657)ctggac>ctATac	p.D219Y	ENTPD3_uc010hhy.3_Missense_Mutation_p.D219Y|ENTPD3-AS1_uc003cke.4_Intron	NM_001248	NP_001239	O75355	ENTP3_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 3 (ENTPD3), mRNA.	219						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		CGGGTGCCCTGGACTTAGGTGG	0.540000														35			10		0	0	0.004672	0	0
CSF1	1435	broad.mit.edu	37	1	110466382	110466382	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:110466382G>A	uc001dyu.2	+	5	1552	c.1139G>A	c.(1138-1140)tGg>tAg	p.W380*	CSF1_uc001dyt.2_Intron|CSF1_uc021ori.1_Intron|CSF1_uc001dyw.4_Nonsense_Mutation_p.W380*|CSF1_uc021orj.1_Intron	NM_172212	NP_757351	P09603	CSF1_HUMAN	Homo sapiens colony stimulating factor 1 (macrophage) (CSF1), transcript variant 4, mRNA.	380					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGCCAGGACTGGAATCACACC	0.647000											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			12		0	0	0.001855	0	0
ZNF804B	219578	broad.mit.edu	37	7	88962863	88962863	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:88962863C>T	uc011khi.2	+	3	1105	c.567C>T	c.(565-567)caC>caT	p.H189H		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	189						intracellular	zinc ion binding	p.R188L(1)|p.R188*(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CAAATCGACACCAATTACAAT	0.413000										HNSCC(36;0.09)				55			21		0	0	0.002299	0	0
TNXB	7148	broad.mit.edu	37	6	32010368	32010368	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:32010368G>A	uc003nzl.2	-	39	12270	c.12068C>T	c.(12067-12069)cCc>cTc	p.P4023L	TNXB_uc003nzg.1_Missense_Mutation_p.P454L|TNXB_uc003nzh.1_Missense_Mutation_p.P492L	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	4070	Fibronectin type-III 32.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTGGGGAAGGGGATCCGCAG	0.701000														75			34		0	0	0.009718	0	0
FGA	2243	broad.mit.edu	37	4	155507206	155507206	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:155507206G>A	uc003iod.1	-	4	1433	c.1375C>T	c.(1375-1377)Cgt>Tgt	p.R459C	FGA_uc003ioe.1_Missense_Mutation_p.R459C|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	459					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GAGCATGAACGACGCGTGGTG	0.463000														168			32		0	0	0.003271	0	0
GPR15	2838	broad.mit.edu	37	3	98251496	98251496	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:98251496C>T	uc011bgy.2	+	0	619	c.619C>T	c.(619-621)Cct>Tct	p.P207S		NM_005290	NP_005281	P49685	GPR15_HUMAN	Homo sapiens G protein-coupled receptor 15 (GPR15), mRNA.	207						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.V206G(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CTTTTTTGTCCCTTTGTTGAG	0.428000														82			24		0	0	0.003330	0	0
ODZ3	55714	broad.mit.edu	37	4	183594198	183594198	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:183594198T>A	uc003ivd.1	+	5	1227	c.1152T>A	c.(1150-1152)gaT>gaA	p.D384E		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	384					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ACACCATAGATTCCGGAGAAC	0.358000														5			6		0	0	0.001168	0	0
COL17A1	1308	broad.mit.edu	37	10	105819447	105819447	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:105819447C>T	uc001kxr.3	-	14	1340	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	COL17A1_uc010qqv.1_Missense_Mutation_p.E375K	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	391	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCTTGCTTTTCTTTTTTTAGG	0.438000														36			15		0	0	0.001882	0	0
DST	667	broad.mit.edu	37	6	56479171	56479171	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:56479171G>A	uc003pcy.4	-	22	3538	c.3430C>T	c.(3430-3432)Ccc>Tcc	p.P1144S	DST_uc021zay.1_Missense_Mutation_p.P1510S|DST_uc021zax.1_Missense_Mutation_p.P1144S	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	3548					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTAGAGAAGGGAGGTTTTCCA	0.358000														46			12		0	0	0.001855	0	0
NPHP3	27031	broad.mit.edu	37	3	132277877	132277877	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:132277877G>A	uc003eov.4	-	19	2661	c.2281C>T	c.(2281-2283)Ctt>Ttt	p.L761F		NM_032169	NP_115545	Q7Z494	NPHP3_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA.	0					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATTGCTGAAAGATGAACTTCG	0.478000														43			23		0	0	0.006320	0	0
RSPH10B	222967	broad.mit.edu	37	7	5968013	5968013	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:5968013C>T	uc003sph.1	-	19	2517	c.2246G>A	c.(2245-2247)aGa>aAa	p.R749K	RSPH10B_uc003spg.1_Missense_Mutation_p.R596K|RSPH10B_uc010ktd.1_Missense_Mutation_p.R749K|RSPH10B_uc011jwk.2_Missense_Mutation_p.D371N	NM_173565	NP_775836	B2RC85	R10B2_HUMAN	Homo sapiens radial spoke head 10 homolog B (Chlamydomonas) (RSPH10B), mRNA.	749										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		ATCCTTGGGTCTCTCATATTT	0.438000														184			37		0	0	0.003610	0	0
F8	2157	broad.mit.edu	37	X	154132639	154132639	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:154132639C>T	uc004fmt.3	-	16	5918	c.5747G>A	c.(5746-5748)aGa>aAa	p.R1916K	F8_uc010nvi.1_Missense_Mutation_p.R75K	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1916	F5/8 type A 3.|Plastocyanin-like 6.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCTGCAGTTTCTTTCCATATT	0.408000														62			95		0	0	0.003610	0	0
MTCH2	23788	broad.mit.edu	37	11	47653242	47653242	+	Missense_Mutation	SNP	G	A	A	rs146228351	by1000genomes	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:47653242G>A	uc010rho.2	-	5	580	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	MTCH2_uc010rhp.2_Intron	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN	Homo sapiens mitochondrial carrier 2 (MTCH2), nuclear gene encoding mitochondrial protein, mRNA.	131					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GCAGCAGAACGAGCGATCATC	0.423000														82			30		0	0	0.002836	0	0
GPR174	84636	broad.mit.edu	37	X	78427282	78427282	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:78427282G>A	uc004edg.1	+	0	814	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.	260						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						GAAGTCCAATGAAATTAAAAG	0.388000										HNSCC(63;0.18)				19			28		0	0	0.008361	0	0
GOLGA6A	342096	broad.mit.edu	37	15	74368272	74368272	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:74368272C>T	uc002axa.1	-	7	660	c.619G>A	c.(619-621)Gag>Aag	p.E207K		NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN	Homo sapiens golgin A6 family, member A (GOLGA6A), mRNA.	207										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						AGCGCCCGCTCCTTTATGGTC	0.592000														251			22		0	0	0.003954	0	0
USP29	57663	broad.mit.edu	37	19	57642045	57642045	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:57642045A>G	uc002qny.3	+	3	2358	c.2002A>G	c.(2002-2004)Aag>Gag	p.K668E	USP29_uc021vci.1_Missense_Mutation_p.K668E	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	668					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGATGGAGGGAAGCTGATCAG	0.473000														33			18		0	0	0.007413	0	0
RNF123	63891	broad.mit.edu	37	3	49753392	49753392	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:49753392C>T	uc003cxh.3	+	32	3374	c.3288C>T	c.(3286-3288)ttC>ttT	p.F1096F	RNF123_uc003cxi.3_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	1096						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CTGAGATATTCCTTGACTGGA	0.592000														58			30		0	0	0.002445	0	0
abParts	0	broad.mit.edu	37	14	106774143	106774143	+	RNA	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:106774143C>T	uc021ser.1	-	683		c.18667G>A								Parts of antibodies, mostly variable regions.																		CGGAGGTGTCCATGGAGAAGA	0.532000														15			5		0	0	0.000602	0	0
SCN2A	6326	broad.mit.edu	37	2	166243507	166243507	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:166243507G>A	uc002udc.3	+	25	5093	c.4803G>A	c.(4801-4803)gtG>gtA	p.V1601V	SCN2A_uc002udd.3_Silent_p.V1601V|SCN2A_uc002ude.3_Silent_p.V1601V|SCN2A_uc021vry.1_Silent_p.V101V	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1601					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ATTTTGTGGTGGTCATTCTCT	0.333000														63			25		0	0	0.005443	0	0
COQ5	84274	broad.mit.edu	37	12	120966880	120966880	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:120966880C>T	uc001tyn.3	-	0	85	c.65G>A	c.(64-66)cGg>cAg	p.R22Q	COQ5_uc010szj.2_Missense_Mutation_p.R22Q	NM_032314	NP_115690	Q5HYK3	COQ5_HUMAN	Homo sapiens coenzyme Q5 homolog, methyltransferase (S. cerevisiae) (COQ5), nuclear gene encoding mitochondrial protein, mRNA.	22					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGGCAGCCCCGCATCGCCCG	0.652000														29			10		0	0	0.006214	0	0
PSG9	5678	broad.mit.edu	37	19	43763053	43763053	+	Missense_Mutation	SNP	C	T	T	rs147249563	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:43763053C>T	uc002owd.4	-	3	1043	c.944G>A	c.(943-945)cGa>cAa	p.R315Q	PSG9_uc002owe.4_Intron|PSG9_uc010xwm.2_Missense_Mutation_p.R222Q|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Intron	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	315	Ig-like C2-type 2.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GCCACCATATCGGTCCCGTAT	0.493000														22			47		0	0	0.003610	0	0
TECRL	253017	broad.mit.edu	37	4	65147237	65147237	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:65147237G>A	uc003hcv.3	-	9	982	c.873C>T	c.(871-873)ttC>ttT	p.F291F	TECRL_uc010ihi.3_Non-coding_Transcript	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	291					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	p.P290P(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						ACATCCATGTGAAGGGGTTAT	0.338000														22			16		0	0	0.006122	0	0
UNC5C	8633	broad.mit.edu	37	4	96163673	96163673	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:96163673C>T	uc003hto.3	-	6	1368	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	UNC5C_uc010ilc.2_Missense_Mutation_p.E339K|UNC5C_uc003htq.3_Missense_Mutation_p.E339K	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	339	TSP type-1 2.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCCGTGCACTCCCTCCTGCGC	0.582000														18			7		0	0	0.001984	0	0
DOCK9	23348	broad.mit.edu	37	13	99540745	99540745	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:99540745G>A	uc001vnt.2	-	16	1904	c.1849C>T	c.(1849-1851)Ccc>Tcc	p.P617S	DOCK9_uc001vnw.2_Missense_Mutation_p.P616S|DOCK9_uc021rlw.1_Missense_Mutation_p.P616S|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Missense_Mutation_p.P617S|DOCK9_uc010tis.1_Missense_Mutation_p.P616S|DOCK9_uc010tit.1_Missense_Mutation_p.P617S|DOCK9_uc010afu.1_Missense_Mutation_p.P432S	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	617					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AACGTGATGGGAGTTTTACTG	0.363000														50			31		0	0	0.002096	0	0
SVEP1	79987	broad.mit.edu	37	9	113173591	113173591	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:113173591G>C	uc010mtz.3	-	36	6737	c.6400C>G	c.(6400-6402)Cct>Gct	p.P2134A	SVEP1_uc010mty.3_Missense_Mutation_p.P60A	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2134	Sushi 12.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.Q2134L(1)		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						ATGGGGGAAGGGTTCCACTGC	0.483000														23			13		0	0	0.001855	0	0
SIK3	23387	broad.mit.edu	37	11	116827673	116827673	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:116827673C>T	uc001ppy.3	-	1	243	c.207G>A	c.(205-207)agG>agA	p.R69R	SIK3_uc001ppz.3_5'UTR|SIK3_uc001pqa.3_Silent_p.R69R	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	69	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CCTGGTAGAGCCTGATGATAT	0.418000														347			86		0	0	0.003610	0	0
ZNF100	163227	broad.mit.edu	37	19	21910166	21910166	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:21910166G>A	uc002nqi.3	-	4	1147	c.948C>T	c.(946-948)ccC>ccT	p.P316P	ZNF100_uc002nqh.3_Silent_p.P252P	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	Homo sapiens zinc finger protein 100 (ZNF100), mRNA.	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TACATTTGTAGGGTTTCACTC	0.393000														36			18		0	0	0.007413	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129668810	129668810	+	Missense_Mutation	SNP	G	A	A	rs143076145	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:129668810G>A	uc003vpi.3	-	4	580	c.553C>T	c.(553-555)Cgt>Tgt	p.R185C	ZC3HC1_uc010lma.3_Missense_Mutation_p.R72C	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	Homo sapiens zinc finger, C3HC-type containing 1 (ZC3HC1), mRNA.	185	F-box-like.				cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					CTTTGAAAACGATCTAGGAAT	0.443000														14			50		0	0	0.003610	0	0
C10orf71	118461	broad.mit.edu	37	10	50532237	50532237	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:50532237G>A	uc021pqb.1	+	0	1647	c.1647G>A	c.(1645-1647)gaG>gaA	p.E549E	C10orf71_uc021pqa.1_Silent_p.E548E|C10orf71_uc021pqc.1_Silent_p.E549E	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	549										endometrium(1)	1						ATGGGCTTGAGGAAAGCCCTC	0.517000														16			10		0	0	0.008291	0	0
SMYD4	114826	broad.mit.edu	37	17	1715306	1715306	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:1715306G>A	uc002ftm.4	-	2	406	c.238C>T	c.(238-240)Cag>Tag	p.Q80*		NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	Homo sapiens SET and MYND domain containing 4 (SMYD4), mRNA.	80							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						TCTTTCTCCTGAAATTTTTTG	0.393000														84			53		0	0	0.003610	0	0
HEATR5B	54497	broad.mit.edu	37	2	37235782	37235782	+	Silent	SNP	G	A	A	rs139581322		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:37235782G>A	uc002rpp.1	-	27	4590	c.4494C>T	c.(4492-4494)gcC>gcT	p.A1498A	HEATR5B_uc010ezy.1_Silent_p.A82A|HEATR5B_uc002rpq.4_Silent_p.A82A	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	1498							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TAGAAAATTCGGCTGGTAAAG	0.383000														46			15		0	0	0.003163	0	0
PLEC	5339	broad.mit.edu	37	8	144996939	144996939	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:144996939C>T	uc003zaf.1	-	30	7739	c.7569G>A	c.(7567-7569)aaG>aaA	p.K2523K	PLEC_uc003zab.1_Silent_p.K2386K|PLEC_uc003zac.1_Silent_p.K2390K|PLEC_uc003zad.2_Silent_p.K2386K|PLEC_uc003zae.1_Silent_p.K2354K|PLEC_uc003zag.1_Silent_p.K2364K|PLEC_uc003zah.2_Silent_p.K2372K|PLEC_uc003zaj.2_Silent_p.K2413K	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2523	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCACACGCAGCTTGAGGCGCT	0.706000														13			3		0	0	0.004672	0	0
CEP290	80184	broad.mit.edu	37	12	88472896	88472896	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:88472896G>A	uc001tar.3	-	38	5681	c.5337C>T	c.(5335-5337)atC>atT	p.I1779I	CEP290_uc001taq.3_Silent_p.I839I	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	1779					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						GTCGATCAACGATTTGTTGAA	0.378000														11			12		0	0	0.001855	0	0
MUC16	94025	broad.mit.edu	37	19	9060306	9060306	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9060306C>T	uc002mkp.3	-	2	27344	c.27140G>A	c.(27139-27141)aGc>aAc	p.S9047N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9049	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						CTGATCAGGGCTAGGTCCTCT	0.493000														51			17		0	0	0.004007	0	0
MFNG	4242	broad.mit.edu	37	22	37876261	37876261	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:37876261G>T	uc003ass.2	-	2	644	c.381C>A	c.(379-381)ttC>ttA	p.F127L	MFNG_uc011anj.2_Missense_Mutation_p.F113L|MFNG_uc011ani.2_Missense_Mutation_p.F5L|CARD10_uc003ast.1_Non-coding_Transcript	NM_002405	NP_002396	O00587	MFNG_HUMAN	Homo sapiens MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (MFNG), transcript variant 1, mRNA.	127					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	p.F127F(2)		large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					AGAAGGTGTCGAACTCAGCAG	0.597000														29			18		5.03518e-11	5.76709e-11	0.007413	1	0
GALNT8	26290	broad.mit.edu	37	12	4854713	4854713	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:4854713T>C	uc001qne.1	+	4	1071	c.979T>C	c.(979-981)Ttt>Ctt	p.F327L		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	327						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						AGTTGATGGGTTTAACTGGGA	0.488000														30			14		0	0	0.002450	0	0
ROGDI	79641	broad.mit.edu	37	16	4847783	4847783	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:4847783G>A	uc002cxv.3	-	9	856	c.754C>T	c.(754-756)Ccc>Tcc	p.P252S	ROGDI_uc002cxu.3_Missense_Mutation_p.P162S|ROGDI_uc002cxw.3_Missense_Mutation_p.P162S	NM_024589	NP_078865	Q9GZN7	ROGDI_HUMAN	Homo sapiens rogdi homolog (Drosophila) (ROGDI), mRNA.	252						intracellular				endometrium(2)|lung(1)|ovary(1)|skin(1)	5						TTGAGCCAGGGGATCACGCAC	0.662000														51			26		0	0	0.005443	0	0
DNAH5	1767	broad.mit.edu	37	5	13865927	13865927	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:13865927A>T	uc003jfd.2	-	26	4247	c.4205T>A	c.(4204-4206)cTt>cAt	p.L1402H		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1402	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L1402F(1)|p.Q1401L(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TATTTCAAGAAGCTGAGGATA	0.328000									Kartagener syndrome					40			15		0	0	0.003163	0	0
REEP1	65055	broad.mit.edu	37	2	86481850	86481850	+	Silent	SNP	C	T	T	rs141929755		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:86481850C>T	uc021vke.1	-	3	298	c.291G>A	c.(289-291)aaG>aaA	p.K97K	REEP1_uc002srh.4_Silent_p.K90K|REEP1_uc010yth.2_Silent_p.K63K|REEP1_uc010yti.2_Intron|REEP1_uc010ytg.2_Silent_p.K69K	NM_001164730	NP_001158202	Q9H902	REEP1_HUMAN	Homo sapiens receptor accessory protein 1 (REEP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	90					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						GATGTACAAACTTCCTGTACA	0.388000														38			28		0	0	0.009535	0	0
THNSL2	55258	broad.mit.edu	37	2	88472870	88472870	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:88472870C>T	uc002ssy.4	+	0	1892	c.201C>T	c.(199-201)ctC>ctT	p.L67L	THNSL2_uc002ssw.4_Silent_p.L67L|THNSL2_uc002sta.4_Intron|THNSL2_uc010fhe.3_Intron|THNSL2_uc021vkq.1_Silent_p.L67L|THNSL2_uc021vkr.1_Silent_p.L67L	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	Homo sapiens threonine synthase-like 2 (S. cerevisiae) (THNSL2), transcript variant 1, mRNA.	67					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						GCTCTGAGCTCCTTCCAAAAG	0.522000														36			8		0	0	0.003080	0	0
GAD1	2571	broad.mit.edu	37	2	171705805	171705805	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:171705805G>A	uc002ugi.3	+	11	1551	c.1129G>A	c.(1129-1131)Gga>Aga	p.G377R	GAD1_uc010fqc.3_5'UTR	NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	377					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GGCTGCCTGGGGAGGTGGGCT	0.522000														47			10		0	0	0.008291	0	0
PTH1R	5745	broad.mit.edu	37	3	46944953	46944953	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:46944953G>A	uc003cqm.3	+	15	1792	c.1589G>A	c.(1588-1590)gGc>gAc	p.G530D	PTH1R_uc021wxg.1_Missense_Mutation_p.G530D	NM_000316	NP_001171673	Q03431	PTH1R_HUMAN	Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA.	530						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						ACCACCAACGGCCACCCTCAG	0.682000														49			19		0	0	0.008871	0	0
ZNF341	84905	broad.mit.edu	37	20	32349678	32349678	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:32349678G>T	uc002wzy.3	+	7	1059	c.1039G>T	c.(1039-1041)Gag>Tag	p.E347*	ZNF341_uc002wzx.3_Nonsense_Mutation_p.E340*|ZNF341_uc010geq.3_Nonsense_Mutation_p.E257*|ZNF341_uc010ger.3_Non-coding_Transcript	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A347T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCACACCGGTGAGAAGCCCTT	0.577000														79			34		2.19358e-23	2.52782e-23	0.005524	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140188271	140188271	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140188271G>A	uc003lhi.2	+	0	1600	c.1499G>A	c.(1498-1500)gGg>gAg	p.G500E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.G500E|PCDHAC2_uc011daa.2_Missense_Mutation_p.G500E	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	514	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.K499K(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCGGGTAGGGGAGCGCGCG	0.657000														30			14		0	0	0.002450	0	0
NUB1	51667	broad.mit.edu	37	7	151065825	151065825	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:151065825G>A	uc003wjx.3	+	10	1188	c.1172G>A	c.(1171-1173)cGt>cAt	p.R391H	NUB1_uc003wjw.3_Missense_Mutation_p.R367H|AK055458_uc003wjz.1_5'Flank	NM_001243351	NP_001230280	Q9Y5A7	NUB1_HUMAN	Homo sapiens negative regulator of ubiquitin-like proteins 1 (NUB1), transcript variant 1, mRNA.	367	UBA 1.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		CTCTAGGCACGTCAGCTCTTT	0.418000											OREG0018452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		65			168		0	0	0.003610	0	0
TRAT1	50852	broad.mit.edu	37	3	108568052	108568052	+	Missense_Mutation	SNP	G	A	A	rs138442609	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:108568052G>A	uc003dxi.1	+	4	398	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	TRAT1_uc010hpx.1_Missense_Mutation_p.R48Q	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	85					T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling	T cell receptor complex|integral to plasma membrane	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						ATGAAAGCCCGACCAGAGAAA	0.343000														49			15		0	0	0.010504	0	0
TAOK2	9344	broad.mit.edu	37	16	29998174	29998174	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:29998174A>T	uc010bzm.2	+	14	2637	c.2602A>T	c.(2602-2604)Att>Ttt	p.I868F	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Missense_Mutation_p.I748F|TAOK2_uc002dva.2_Missense_Mutation_p.I861F|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Missense_Mutation_p.I688F	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	861	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGAGAGGAGCATTGTTGGCCA	0.577000														21			11		0	0	0.000978	0	0
CDH18	1016	broad.mit.edu	37	5	19612677	19612677	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:19612677C>T	uc003jgd.3	-	5	1211	c.677G>A	c.(676-678)aGa>aAa	p.R226K	CDH18_uc011cnm.2_Missense_Mutation_p.R226K|CDH18_uc003jgc.3_Missense_Mutation_p.R226K|CDH18_uc021xwu.1_Missense_Mutation_p.R226K	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	226	Cadherin 2.			R -> G (in Ref. 4; AAH31051).	adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D225E(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCTGGCTTCTCTGTCCATGTT	0.383000														28			15		0	0	0.004007	0	0
SCRN1	9805	broad.mit.edu	37	7	29963649	29963649	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:29963649G>A	uc011kaa.2	-	7	1278	c.1229C>T	c.(1228-1230)tCc>tTc	p.S410F	SCRN1_uc011jzy.2_Missense_Mutation_p.S322F|SCRN1_uc003tak.3_Missense_Mutation_p.S390F|SCRN1_uc011jzz.2_Missense_Mutation_p.S390F|SCRN1_uc011jzw.2_Missense_Mutation_p.S257F|SCRN1_uc010kvp.3_Missense_Mutation_p.S390F|SCRN1_uc011jzx.2_Missense_Mutation_p.S213F	NM_001145514	NP_001138986	Q12765	SCRN1_HUMAN	Homo sapiens secernin 1 (SCRN1), transcript variant 3, mRNA.	390					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CAGTGGCTCGGAGCTGGTCAG	0.537000														52			26		0	0	0.004656	0	0
FREM2	341640	broad.mit.edu	37	13	39454855	39454855	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:39454855G>A	uc001uwv.3	+	23	9750	c.9441G>A	c.(9439-9441)ccG>ccA	p.P3147P		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	3147					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGGATGCCCCGAAAGGCTCCA	0.547000														18			15		0	0	0.003163	0	0
NLRP11	204801	broad.mit.edu	37	19	56300601	56300601	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:56300601T>A	uc010ygf.2	-	9	3389	c.2678A>T	c.(2677-2679)aAt>aTt	p.N893I	NLRP11_uc002qlz.3_Missense_Mutation_p.N740I|NLRP11_uc002qmb.3_Missense_Mutation_p.N794I|NLRP11_uc002qmc.3_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	893							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CTACCCAATATTCACCAACAT	0.468000														51			28		0	0	0.006320	0	0
OVOS2	0	broad.mit.edu	37	12	31279433	31279433	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:31279433C>T	uc010sjy.1	-	25	3320	c.3320G>A	c.(3319-3321)cGa>cAa	p.R1107Q						RecName: Full=Ovostatin homolog 2; Flags: Precursor;													all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAGTGCGTTTCGTAGAGCAGG	0.393000														25			5		0	0	0.003080	0	0
OSM	5008	broad.mit.edu	37	22	30660329	30660329	+	Missense_Mutation	SNP	G	A	A	rs144672631		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:30660329G>A	uc003ahb.3	-	2	343	c.302C>T	c.(301-303)gCc>gTc	p.A101V		NM_020530	NP_065391	P13725	ONCM_HUMAN	Homo sapiens oncostatin M (OSM), mRNA.	101					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of MAPKKK cascade|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			GCCCAGTGTGGCATTGAGGGT	0.652000														21			11		0	0	0.000978	0	0
PLG	5340	broad.mit.edu	37	6	161152223	161152223	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:161152223C>T	uc003qtm.4	+	10	1509	c.1397C>T	c.(1396-1398)cCt>cTt	p.P466L		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	466		Cleavage; by stromelysin-19.			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			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)	GCACCTCCGCCTGTTGTCCTG	0.512000														45			22		0	0	0.002299	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2901625	2901625	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:2901625C>T	uc010ckd.3	+	13	1245	c.1155C>T	c.(1153-1155)atC>atT	p.I385I	RAP1GAP2_uc010cke.3_Silent_p.I370I	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	385	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						ATGCCTACATCGTCGTGCAGG	0.532000														64			9		0	0	0.004482	0	0
CSMD3	114788	broad.mit.edu	37	8	113299325	113299325	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:113299325C>T	uc003ynu.3	-	57	9458	c.9299G>A	c.(9298-9300)gGc>gAc	p.G3100D	CSMD3_uc003yns.3_Missense_Mutation_p.G2302D|CSMD3_uc003ynt.3_Missense_Mutation_p.G3060D|CSMD3_uc011lhx.2_Missense_Mutation_p.G2931D	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3100	Sushi 22.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTCCAACTGCCATTAGCTAA	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				62			24		0	0	0.002780	0	0
PCDH9	5101	broad.mit.edu	37	13	67799944	67799944	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:67799944G>A	uc001vik.3	-	1	3321	c.2629C>T	c.(2629-2631)Ccc>Tcc	p.P877S	PCDH9_uc001vil.3_Missense_Mutation_p.P877S|PCDH9_uc010thl.2_Missense_Mutation_p.P877S|PCDH9_uc001vin.3_Missense_Mutation_p.P877S	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	877					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GAGCTTTTGGGAGACTTCCTT	0.443000														71			17		0	0	0.004007	0	0
SPATA16	83893	broad.mit.edu	37	3	172835378	172835378	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:172835378C>T	uc003fin.4	-	1	328	c.144G>A	c.(142-144)aaG>aaA	p.K48K		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	48					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CACAGTTTTTCTTAATCTCTT	0.383000														150			74		0	0	0.003610	0	0
ZMYM6	9204	broad.mit.edu	37	1	35474514	35474514	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:35474514G>A	uc001byh.3	-	10	1732	c.1504C>T	c.(1504-1506)Ctc>Ttc	p.L502F	ZMYM6_uc001byf.1_Missense_Mutation_p.L502F|ZMYM6_uc010oht.2_Missense_Mutation_p.L405F|ZMYM6_uc009vup.3_Missense_Mutation_p.L308F|ZMYM6_uc009vuq.1_Missense_Mutation_p.L502F|ZMYM6_uc009vur.1_Missense_Mutation_p.L308F	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	Homo sapiens zinc finger, MYM-type 6 (ZMYM6), mRNA.	502					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				CGGGCAGAGAGGAATTTGCAA	0.403000														56			18		0	0	0.007413	0	0
CD33	945	broad.mit.edu	37	19	51729138	51729138	+	Silent	SNP	C	T	T	rs147729352		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:51729138C>T	uc002pwa.2	+	2	538	c.498C>T	c.(496-498)tcC>tcT	p.S166S	CD33_uc010eos.1_Silent_p.S166S|CD33_uc010eot.1_Silent_p.S39S|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	166	Ig-like C2-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GCTCTGTGTCCTGGGCCTGTG	0.587000														76			28		0	0	0.006320	0	0
ZNF433	163059	broad.mit.edu	37	19	12126465	12126465	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:12126465G>A	uc002msy.1	-	3	1388	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F	AX747405_uc002msx.1_Intron|ZNF433_uc002msz.1_Missense_Mutation_p.S371F	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN	Homo sapiens zinc finger protein 433 (ZNF433), mRNA.	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						GAAGGAACTGGAAGAATTAAA	0.408000														60			30		0	0	0.008361	0	0
MFSD7	84179	broad.mit.edu	37	4	680023	680023	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:680023C>T	uc003gay.3	-	2	420	c.363G>A	c.(361-363)ggG>ggA	p.G121G	MFSD7_uc003gaw.3_5'Flank|MFSD7_uc003gax.3_Silent_p.G121G|MFSD7_uc003gaz.3_Intron	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	Homo sapiens major facilitator superfamily domain containing 7 (MFSD7), mRNA.	121					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GGTTTTGGGTCCCAACAACCA	0.622000														26			12		0	0	0.001368	0	0
BMP6	654	broad.mit.edu	37	6	7845444	7845444	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:7845444C>T	uc003mxu.4	+	1	914	c.736C>T	c.(736-738)Cct>Tct	p.P246S		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	246					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)					ATCCCAGATTCCTGAGGGTGA	0.433000														81			32		0	0	0.002836	0	0
MYH7	4625	broad.mit.edu	37	14	23891523	23891523	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:23891523G>A	uc001wjx.3	-	24	3217	c.3111C>T	c.(3109-3111)tcC>tcT	p.S1037S		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1037					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTTGCTCCAGGGATCCTTCCA	0.552000														36			21		0	0	0.002299	0	0
ADAM28	10863	broad.mit.edu	37	8	24199265	24199265	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:24199265A>T	uc003xdy.3	+	15	1908	c.1825A>T	c.(1825-1827)Aac>Tac	p.N609Y	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.N296Y	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	609	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GTGTGGCGATAACAAGGTAAG	0.398000														50			35		0	0	0.003755	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26236498	26236498	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:26236498C>T	uc003sxr.4	-	4	656	c.440G>A	c.(439-441)aGg>aAg	p.R147K	HNRNPA2B1_uc003sxs.4_Missense_Mutation_p.R135K	NM_031243	NP_112533	P22626	ROA2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A2/B1 (HNRNPA2B1), transcript variant B1, mRNA.	147	RRM 2.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	RNA binding|nucleotide binding|protein binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						TCCAGACTGCCTATCAGTAAT	0.358000			T	ETV1	prostate									121			46		0	0	0.003610	0	0
LARGE	9215	broad.mit.edu	37	22	33780259	33780259	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:33780259C>T	uc003and.4	-	8	1503	c.924G>A	c.(922-924)cgG>cgA	p.R308R	LARGE_uc011amd.2_Silent_p.R107R|LARGE_uc003ane.4_Silent_p.R308R|LARGE_uc010gwp.3_Silent_p.R308R|LARGE_uc011ame.2_Silent_p.R240R|LARGE_uc011amf.2_Silent_p.R308R|LARGE_uc010gwq.1_Non-coding_Transcript	NM_004737	NP_598397	O95461	LARGE_HUMAN	Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA.	308					N-acetylglucosamine metabolic process|glycosphingolipid biosynthetic process|muscle cell homeostasis|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				ATTTCATCTTCCGCAGCTTAT	0.488000														92			32		0	0	0.002836	0	0
CACNA1A	773	broad.mit.edu	37	19	13414615	13414615	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:13414615G>A	uc002mwy.3	-	15	2306	c.2070C>T	c.(2068-2070)tcC>tcT	p.S690S	CACNA1A_uc010dzc.2_Silent_p.S216S|CACNA1A_uc010xnd.2_Silent_p.S690S|CACNA1A_uc021ups.1_Silent_p.S690S|CACNA1A_uc010xne.2_Silent_p.S690S|CACNA1A_uc010dze.2_Silent_p.S690S|CACNA1A_uc021upt.1_Silent_p.S691S	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	691					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGAAATAGATGGAGAACACCA	0.567000														130			61		0	0	0.003610	0	0
SACS	26278	broad.mit.edu	37	13	23928867	23928867	+	Silent	SNP	G	A	A	rs144468379	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:23928867G>A	uc001uon.2	-	7	2473	c.1884C>T	c.(1882-1884)ccC>ccT	p.P628P	SACS_uc001uoo.2_Silent_p.P481P|SACS_uc001uop.1_Silent_p.P415P|SACS_uc001uoq.1_Silent_p.P481P	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	628					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding	p.P628P(1)|p.P481P(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GCACCCACGCGGGCGTCACCT	0.562000														45			8		0	0	0.003080	0	0
NEBL	10529	broad.mit.edu	37	10	21120197	21120197	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:21120197C>T	uc001iqi.3	-	15	1996	c.1599G>A	c.(1597-1599)ggG>ggA	p.G533G	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	533					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCATTCCTTTCCCTTTAATTT	0.353000														50			21		0	0	0.001882	0	0
SRSF11	9295	broad.mit.edu	37	1	70715710	70715710	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:70715710C>T	uc001des.3	+	10	1222	c.1098C>T	c.(1096-1098)tcC>tcT	p.S366S	SRSF11_uc001det.3_Silent_p.S366S|SRSF11_uc001deu.2_Silent_p.S373S|SRSF11_uc001dev.3_Silent_p.S176S|SRSF11_uc001dew.3_Silent_p.S306S	NM_004768	NP_004759	Q05519	SRS11_HUMAN	Homo sapiens serine/arginine-rich splicing factor 11 (SRSF11), transcript variant 1, mRNA.	366					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding			large_intestine(3)|ovary(2)|skin(1)	6						GAAAATTGTCCCGCTCACCAT	0.373000														57			16		0	0	0.004007	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68691497	68691497	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:68691497C>T	uc003hdq.3	-	8	1113	c.1048G>A	c.(1048-1050)Gga>Aga	p.G350R	LOC550112_uc003hdl.4_Intron|TMPRSS11D_uc003hdp.3_Missense_Mutation_p.G131R|TMPRSS11D_uc011caj.2_Missense_Mutation_p.G233R	NM_004262	NP_004253	O60235	TM11D_HUMAN	Homo sapiens transmembrane protease, serine 11D (TMPRSS11D), mRNA.	350	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CACAGCATTCCAGACAAGATG	0.443000														28			22		0	0	0.001882	0	0
DAAM1	23002	broad.mit.edu	37	14	59820639	59820639	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:59820639G>A	uc001xdz.1	+	19	2468	c.2343G>A	c.(2341-2343)aaG>aaA	p.K781K	DAAM1_uc001xea.1_Silent_p.K771K|DAAM1_uc001xec.1_5'Flank	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA.	781	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	Rho GTPase binding|actin binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		ACTTCAAAAAGAAGTTTGCAG	0.348000														19			5		0	0	0.000602	0	0
KIF25	3834	broad.mit.edu	37	6	168431510	168431510	+	Silent	SNP	C	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:168431510C>A	uc003qwk.1	+	2	412	c.150C>A	c.(148-150)ctC>ctA	p.L50L	KIF25_uc003qwl.1_Silent_p.L50L	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	50	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCCCCCTACTCACTTCTCTCT	0.423000														72			33		1.06647e-15	1.22522e-15	0.003755	1	0
FMO3	2328	broad.mit.edu	37	1	171076868	171076868	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:171076868G>A	uc001ghi.3	+	3	485	c.374G>A	c.(373-375)tGg>tAg	p.W125*	FMO3_uc001ghh.3_Nonsense_Mutation_p.W125*|FMO3_uc010pmb.2_Nonsense_Mutation_p.W105*|FMO3_uc010pmc.2_Nonsense_Mutation_p.W62*	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	125					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACTGGCCAGTGGGATGTTACC	0.398000														34			9		0	0	0.004482	0	0
L1TD1	54596	broad.mit.edu	37	1	62675659	62675659	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:62675659G>A	uc021ooc.1	+	4	1648	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	L1TD1_uc001dae.4_Missense_Mutation_p.E405K	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	405	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						AGGGCTggaggaggaggagga	0.542000														34			24		0	0	0.002299	0	0
OR11L1	391189	broad.mit.edu	37	1	248004713	248004713	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:248004713C>T	uc001idn.1	-	0	486	c.486G>A	c.(484-486)atG>atA	p.M162I		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M162I(2)|p.L161P(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACCTGGAAATCATCAGGGAAG	0.557000														69			26		0	0	0.004656	0	0
AP4E1	23431	broad.mit.edu	37	15	51294751	51294751	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:51294751G>A	uc001zyx.2	+	20	3413	c.3306G>A	c.(3304-3306)ctG>ctA	p.L1102L	AP4E1_uc021skz.1_Silent_p.L1027L|AP4E1_uc010bex.1_Non-coding_Transcript	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	1102					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		CCTGCTTACTGCATTGCCGAG	0.428000														96			45		0	0	0.003610	0	0
EMB	133418	broad.mit.edu	37	5	49724062	49724062	+	Splice_Site	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:49724062C>T	uc003jom.3	-	2	362	c.113_splice	c.e2-1	p.D38_splice	EMB_uc011cpy.2_Splice_Site	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	38						integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				AAAGGCGAATCTATAAGAGAA	0.328000														35			13		0	0	0.001855	0	0
GRIK3	2899	broad.mit.edu	37	1	37282712	37282712	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:37282712G>A	uc001caz.2	-	12	2175	c.2040C>T	c.(2038-2040)acC>acT	p.T680T	GRIK3_uc001cba.1_Silent_p.T680T	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	680					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			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)	ACTCGATTTTGGTTTGCTTGG	0.557000														39			23		0	0	0.008361	0	0
CDCA5	113130	broad.mit.edu	37	11	64846868	64846868	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:64846868G>A	uc001ocp.2	-	4	800	c.635C>T	c.(634-636)cCc>cTc	p.P212L		NM_080668	NP_542399	Q96FF9	CDCA5_HUMAN	Homo sapiens cell division cycle associated 5 (CDCA5), mRNA.	212					G1/S transition of mitotic cell cycle|cell division|double-strand break repair|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CTGTTTCTCGGGTGGTGGGGA	0.572000														50			14		0	0	0.004007	0	0
ZNF251	90987	broad.mit.edu	37	8	145948186	145948186	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:145948186G>A	uc003zdv.4	-	4	1115	c.859C>T	c.(859-861)Cac>Tac	p.H287Y		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	Homo sapiens zinc finger protein 251 (ZNF251), mRNA.	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TCTCCAGTGTGAATTCTCCGA	0.433000														41			15		0	0	0.004007	0	0
COL6A6	131873	broad.mit.edu	37	3	130282241	130282241	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:130282241C>T	uc010htl.3	+	1	425	c.394C>T	c.(394-396)Ccc>Tcc	p.P132S		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	132	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GAAACAGTTTCCCCCAATTCT	0.502000														28			12		0	0	0.001368	0	0
ZDHHC14	79683	broad.mit.edu	37	6	158093791	158093791	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:158093791C>T	uc003qqt.3	+	8	1601	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	ZDHHC14_uc003qqs.3_Intron|ZDHHC14_uc010kjn.3_Silent_p.F23F	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN	Homo sapiens zinc finger, DHHC-type containing 14 (ZDHHC14), transcript variant 1, mRNA.	368						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		GCACCAAATTCGTTTTGCAGG	0.667000														24			15		0	0	0.001882	0	0
ATP1A3	478	broad.mit.edu	37	19	42479941	42479941	+	Silent	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:42479941A>T	uc002osh.3	-	15	2257	c.2103T>A	c.(2101-2103)atT>atA	p.I701I	ATP1A3_uc010xwf.2_Silent_p.I712I|ATP1A3_uc010xwg.2_Silent_p.I671I|ATP1A3_uc002osg.3_Silent_p.I701I|ATP1A3_uc010xwh.2_Silent_p.I714I			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	701					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TCACAGCCACAATTGCACCCT	0.637000														76			32		0	0	0.002445	0	0
EPHA4	2043	broad.mit.edu	37	2	222321436	222321436	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:222321436G>A	uc002vmq.3	-	6	1542	c.1500C>T	c.(1498-1500)atC>atT	p.I500I	EPHA4_uc002vmr.2_Silent_p.I500I|EPHA4_uc010zlm.1_Silent_p.I441I	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	500	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TCAGGCCTTTGATATCTGTGT	0.478000														52			21		0	0	0.002299	0	0
PLCL2	23228	broad.mit.edu	37	3	17052326	17052326	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:17052326C>T	uc011awc.2	+	2	1560	c.1464C>T	c.(1462-1464)ttC>ttT	p.F488F	PLCL2_uc010het.1_Intron|PLCL2_uc011awd.2_Silent_p.F370F	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	496	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AGATAGTTTTCCGCAGTGTCA	0.398000														44			23		0	0	0.002780	0	0
MYH1	4619	broad.mit.edu	37	17	10401102	10401102	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:10401102C>T	uc002gmo.3	-	30	4408	c.4314G>A	c.(4312-4314)agG>agA	p.R1438R	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1438						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAGCATTTGTCCTCTCAACAT	0.433000														42			22		0	0	0.001882	0	0
CYFIP2	26999	broad.mit.edu	37	5	156768097	156768097	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:156768097C>T	uc021ygm.1	+	22	2740	c.2602C>T	c.(2602-2604)Cct>Tct	p.P868S	CYFIP2_uc011ddn.2_Missense_Mutation_p.P843S|CYFIP2_uc011ddo.2_Missense_Mutation_p.P673S|CYFIP2_uc021ygn.1_Missense_Mutation_p.P868S|CYFIP2_uc021ygo.1_Missense_Mutation_p.P868S|CYFIP2_uc003lwt.3_Missense_Mutation_p.P772S|CYFIP2_uc011ddp.2_Missense_Mutation_p.P603S	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	894					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GACTGCCATTCCTTTCACCCA	0.463000														349			148		0	0	0.003610	0	0
APOC3	345	broad.mit.edu	37	11	116701499	116701499	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:116701499G>A	uc001ppt.1	+	2	112	c.66G>A	c.(64-66)gaG>gaA	p.E22E		NM_000040	NP_000031	P02656	APOC3_HUMAN	Homo sapiens apolipoprotein C-III (APOC3), mRNA.	22					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly	chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding			endometrium(1)|lung(6)	7	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GAGCTTCAGAGGCCGAGGATG	0.622000														119			62		0	0	0.003610	0	0
CRYM-AS1	400508	broad.mit.edu	37	16	21328395	21328395	+	RNA	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:21328395G>A	uc010bwr.1	+	2		c.787G>A								Homo sapiens CRYM antisense RNA 1 (non-protein coding) (CRYM-AS1), non-coding RNA.																		GAAGTACTGTGGTTCAGGGTA	0.373000														50			45		0	0	0.009718	0	0
KAT2A	2648	broad.mit.edu	37	17	40271325	40271325	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:40271325G>A	uc002hyx.2	-	5	1071	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F		NM_021078	NP_066564	Q92830	KAT2A_HUMAN	Homo sapiens K(lysine) acetyltransferase 2A (KAT2A), mRNA.	337					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TCTCCACTCGGAACTTTTCCA	0.567000														83			55		0	0	0.003610	0	0
SLC17A8	246213	broad.mit.edu	37	12	100774643	100774643	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:100774643C>T	uc010svi.2	+	1	579	c.266C>T	c.(265-267)tCc>tTc	p.S89F	SLC17A8_uc009ztx.3_Missense_Mutation_p.S89F	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	89					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.I88N(1)|p.S89T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TTCTGCATTTCCTTTGGGATC	0.517000														60			61		0	0	0.003610	0	0
BCL9L	283149	broad.mit.edu	37	11	118770888	118770888	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:118770888G>A	uc001pug.3	-	6	4109	c.3144C>T	c.(3142-3144)ggC>ggT	p.G1048G	BCL9L_uc009zal.3_Silent_p.G1043G	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	1048	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TGCTCCGGGGGCCGCTAGGCG	0.627000														32			21		0	0	0.001882	0	0
MRAP2	112609	broad.mit.edu	37	6	84765066	84765066	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:84765066G>A	uc003pkg.4	+	1	219	c.29G>A	c.(28-30)aGa>aAa	p.R10K	MRAP2_uc010kbo.3_5'UTR	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA.	10					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						ATTTCTAACAGAACCTCCCAG	0.433000														56			28		0	0	0.005443	0	0
DHTKD1	55526	broad.mit.edu	37	10	12155038	12155038	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:12155038C>T	uc001ild.4	+	12	2393	c.2294C>T	c.(2293-2295)tCc>tTc	p.S765F		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	765					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			ATTGTTGCTTCCCCTAAGATG	0.443000														283			142		0	0	0.003610	0	0
ZNF423	23090	broad.mit.edu	37	16	49670894	49670894	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:49670894G>A	uc002efs.3	-	4	2467	c.2169C>T	c.(2167-2169)acC>acT	p.T723T	ZNF423_uc010vgn.2_Silent_p.T606T	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	723					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CCTGACACAGGGTGCAGTGGT	0.557000														23			19		0	0	0.007413	0	0
DNAH1	25981	broad.mit.edu	37	3	52398929	52398929	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:52398929C>T	uc011bef.2	+	33	5673	c.5412C>T	c.(5410-5412)atC>atT	p.I1804I		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1804					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I1804I(3)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCTCTGGCATCGTGTCCGACC	0.607000														65			27		0	0	0.005443	0	0
DNAH5	1767	broad.mit.edu	37	5	13735385	13735385	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:13735385G>A	uc003jfd.2	-	67	11658	c.11616C>T	c.(11614-11616)atC>atT	p.I3872I	DNAH5_uc003jfc.2_Silent_p.I40I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3872					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCATGTGCTCGATGATATTAG	0.443000									Kartagener syndrome					25			7		0	0	0.003080	0	0
LMO7	4008	broad.mit.edu	37	13	76382250	76382250	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:76382250C>T	uc021rkq.1	+	9	2166	c.1831C>T	c.(1831-1833)Ccc>Tcc	p.P611S	LMO7_uc010thv.2_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc001vjv.3_Missense_Mutation_p.P378S|LMO7_uc010thw.2_Intron|LMO7_uc001vjw.1_Missense_Mutation_p.P284S	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	663						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CACCCCTGGCCCCTGCAGTGA	0.532000														32			6		0	0	0.001168	0	0
ZNF829	374899	broad.mit.edu	37	19	37382511	37382511	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:37382511A>C	uc021utr.1	-	5	1492	c.1425T>G	c.(1423-1425)aaT>aaG	p.N475K	ZNF345_uc002oez.2_Intron|ZNF829_uc002ofa.2_Missense_Mutation_p.N394K	NM_001171979	NP_001165450	Q3KNS6	ZN829_HUMAN	Homo sapiens zinc finger protein 829 (ZNF829), transcript variant 1, mRNA.	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTCGAGTAAGATTTGAGCCTT	0.403000														24			20		0	0	0.002780	0	0
RYR1	6261	broad.mit.edu	37	19	39034477	39034477	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:39034477C>T	uc002oit.3	+	86	12104	c.11974C>T	c.(11974-11976)Ctg>Ttg	p.L3992L	RYR1_uc002oiu.3_Silent_p.L3987L|RYR1_uc002oiv.1_Silent_p.L901L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3992					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.L3992M(2)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGTGGGATTCCTGCACGTGTT	0.642000														20			9		0	0	0.008291	0	0
GRM5	2915	broad.mit.edu	37	11	88781001	88781001	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:88781001C>T	uc001pcq.3	-	0	240	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	GRM5_uc009yvm.3_Missense_Mutation_p.E14K|GRM5_uc009yvn.2_Missense_Mutation_p.E14K	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	14					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			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)	CGGACATCTTCTTTCAAAAGT	0.478000														26			14		0	0	0.004007	0	0
SCN10A	6336	broad.mit.edu	37	3	38763812	38763812	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:38763812G>A	uc003ciq.3	-	18	3444	c.3444C>T	c.(3442-3444)atC>atT	p.I1148I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1148					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGTGCTCCACGATACGGTAGC	0.557000														62			27		0	0	0.003954	0	0
MTHFD2L	441024	broad.mit.edu	37	4	75091075	75091075	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:75091075C>T	uc011cbk.2	+	5	796	c.769C>T	c.(769-771)Cat>Tat	p.H257Y	MTHFD2L_uc011cbj.2_Missense_Mutation_p.H199Y|MTHFD2L_uc003hhu.3_Non-coding_Transcript	NM_001144978	NP_001138450	Q9H903	MTD2L_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like (MTHFD2L), mRNA.	199					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			ACTGAAGATTCATACGCAGCT	0.393000														108			20		0	0	0.001882	0	0
PAPPA2	60676	broad.mit.edu	37	1	176659405	176659405	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:176659405C>T	uc001gkz.3	+	4	3434	c.2270C>T	c.(2269-2271)cCc>cTc	p.P757L	PAPPA2_uc001gky.1_Missense_Mutation_p.P757L|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	757					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGCAATGACCCCTGCAAGGAG	0.557000														68			39		0	0	0.009718	0	0
AKAP11	11215	broad.mit.edu	37	13	42875185	42875185	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:42875185A>C	uc001uys.2	+	7	2478	c.2303A>C	c.(2302-2304)cAg>cCg	p.Q768P		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	768					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ACAGTGCAGCAGGCCTTGTTT	0.448000														48			29		0	0	0.008361	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140741262	140741262	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140741262C>T	uc003ljs.2	+	0	1560	c.1560C>T	c.(1558-1560)ttC>ttT	p.F520F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Silent_p.F520F|PCDHGC5_uc011das.2_5'Flank	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	522	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGCGCCTTCGATCATGAGC	0.662000														41			16		0	0	0.006122	0	0
SLC17A6	57084	broad.mit.edu	37	11	22399051	22399051	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:22399051G>A	uc001mqk.3	+	11	1927	c.1514G>A	c.(1513-1515)tGg>tAg	p.W505*		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	505					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						AAACAACCCTGGGCAGACCCG	0.403000														31			19		0	0	0.006122	0	0
DMPK	1760	broad.mit.edu	37	19	46282606	46282606	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:46282606G>A	uc002pdi.1	-	4	612	c.426C>T	c.(424-426)ttC>ttT	p.F142F	DMPK_uc010xxs.1_Silent_p.F27F|DMPK_uc002pdd.1_Silent_p.F126F|DMPK_uc002pde.1_Silent_p.F126F|DMPK_uc002pdg.1_Silent_p.F116F|DMPK_uc002pdf.1_Silent_p.F116F|DMPK_uc002pdh.1_Silent_p.F116F|DMPK_uc010xxt.1_Silent_p.F116F|DMPK_uc010xxu.1_Silent_p.F126F	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	126	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		TCTCCTCACGGAAGCACGACA	0.687000														66			42		0	0	0.002522	0	0
AKAP6	9472	broad.mit.edu	37	14	33068655	33068655	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:33068655G>A	uc001wrq.3	+	5	2679	c.2509G>A	c.(2509-2511)Gaa>Aaa	p.E837K	AKAP6_uc010aml.3_Missense_Mutation_p.E834K	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	837					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGCTCTCAAGGAAGCTGTGGA	0.403000														79			31		0	0	0.003271	0	0
FLNC	2318	broad.mit.edu	37	7	128483492	128483492	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:128483492C>T	uc003vnz.4	+	17	2881	c.2672C>T	c.(2671-2673)aCg>aTg	p.T891M	FLNC_uc003voa.4_Missense_Mutation_p.T891M	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	891					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACCCACTTCACGGTGCTGACC	0.612000														47			13		0	0	0.002450	0	0
C1orf106	55765	broad.mit.edu	37	1	200880585	200880585	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:200880585G>A	uc001gvo.3	+	8	1261	c.1219G>A	c.(1219-1221)Gat>Aat	p.D407N	C1orf106_uc010ppm.2_Missense_Mutation_p.D322N	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	407										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CTTCAGGGTGGATTCCTTCCG	0.632000														163			29		0	0	0.009535	0	0
NCOA3	8202	broad.mit.edu	37	20	46281213	46281213	+	Missense_Mutation	SNP	C	T	T	rs148634537		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:46281213C>T	uc002xtk.3	+	20	4271	c.4010C>T	c.(4009-4011)tCg>tTg	p.S1337L	NCOA3_uc002xtl.3_Missense_Mutation_p.S1333L|NCOA3_uc002xtn.3_Missense_Mutation_p.S1336L|NCOA3_uc010ght.2_Missense_Mutation_p.S1328L|NCOA3_uc002xtm.3_Missense_Mutation_p.S1332L|NCOA3_uc010zyc.2_Missense_Mutation_p.S1132L	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	1337					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCAATGATGTCGTCAAGAATG	0.463000														44			50		0	0	0.003610	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247329	142247329	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:142247329C>T	uc003vyd.4	-	1	152	c.127G>A	c.(127-129)Gat>Aat	p.D43N	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		GAAATTGGATCACACCTGAGC	0.517000														94			7		0	0	0.004007	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54922077	54922077	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:54922077C>T	uc001sgc.4	+	21	2501	c.2422C>T	c.(2422-2424)Ctc>Ttc	p.L808F	NCKAP1L_uc010sox.2_Missense_Mutation_p.L350F|NCKAP1L_uc010soy.2_Missense_Mutation_p.L758F	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	808					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GACCATCATCCTCTCCCCAGC	0.547000														133			51		0	0	0.003610	0	0
DSG4	147409	broad.mit.edu	37	18	28989458	28989458	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:28989458G>A	uc002kwr.2	+	12	2112	c.1977G>A	c.(1975-1977)caG>caA	p.Q659Q	DSG4_uc002kwq.2_Silent_p.Q659Q	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	659					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AACAGAGACAGCCAGAAGGCC	0.532000														102			33		0	0	0.003271	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76569505	76569505	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:76569505T>A	uc002fex.1	+	16	2967	c.2828T>A	c.(2827-2829)aTg>aAg	p.M943K	CNTNAP4_uc002feu.1_Missense_Mutation_p.M939K|CNTNAP4_uc002fev.1_Missense_Mutation_p.M804K|CNTNAP4_uc010chb.1_Missense_Mutation_p.M867K	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	940	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTGAATGGGATGACCCTGGAT	0.517000														29			25		0	0	0.006320	0	0
MUC17	140453	broad.mit.edu	37	7	100686068	100686068	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:100686068G>A	uc003uxp.1	+	2	11424	c.11371G>A	c.(11371-11373)Ggc>Agc	p.G3791S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3791	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGCCTCTGAAGGCAGTTCATC	0.468000														34			90		0	0	0.003610	0	0
GPR32	2854	broad.mit.edu	37	19	51274868	51274868	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:51274868G>A	uc010ycf.2	+	0	1011	c.1011G>A	c.(1009-1011)agG>agA	p.R337R		NM_001506	NP_001497	O75388	GPR32_HUMAN	Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.	337						integral to plasma membrane	N-formyl peptide receptor activity	p.A336A(1)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCCTGGCGAGGGCGTTTGGAG	0.547000														65			46		0	0	0.003610	0	0
MCTP1	79772	broad.mit.edu	37	5	94353134	94353134	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:94353134C>T	uc003kkx.2	-	1	775	c.775G>A	c.(775-777)Gga>Aga	p.G259R	MCTP1_uc003kkv.2_Missense_Mutation_p.G38R|MCTP1_uc003kkw.2_Missense_Mutation_p.G38R|MCTP1_uc003kkz.2_Intron	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	259	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.G259*(2)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TGGTACATTCCGGGATCAGCC	0.378000														68			23		0	0	0.003330	0	0
TLN2	83660	broad.mit.edu	37	15	63011987	63011987	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:63011987C>T	uc002alb.4	+	21	2899	c.2899C>T	c.(2899-2901)Cag>Tag	p.Q967*		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	967	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TCACATCCCTCAGCTGGTCCA	0.547000														18			5		0	0	0.001168	0	0
BTNL3	10917	broad.mit.edu	37	5	180432655	180432655	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:180432655T>G	uc003mmr.3	+	7	1368	c.1184T>G	c.(1183-1185)tTt>tGt	p.F395C	BTNL3_uc010jlp.3_Missense_Mutation_p.F180C	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	395	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			AATCCCCATTTTATCAGCCTC	0.488000														42			10		0	0	0.000978	0	0
GDNF	2668	broad.mit.edu	37	5	37816031	37816031	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:37816031A>C	uc011cpi.2	-	2	558	c.358T>G	c.(358-360)Tta>Gta	p.L120V	GDNF_uc011cpd.2_Missense_Mutation_p.L68V|GDNF_uc011cpe.2_Missense_Mutation_p.L94V|GDNF_uc011cpf.2_Missense_Mutation_p.L94V|GDNF_uc011cpg.2_Missense_Mutation_p.L137V|GDNF_uc011cph.2_Missense_Mutation_p.L111V	NM_000514	NP_000505	P39905	GDNF_HUMAN	Homo sapiens glial cell derived neurotrophic factor (GDNF), transcript variant 1, mRNA.	120					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					ATTGCAGTTAAGACACAACCC	0.512000														97			25		0	0	0.003330	0	0
OR11H12	440153	broad.mit.edu	37	14	19378561	19378561	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:19378561C>T	uc010tkp.2	+	0	968	c.968C>T	c.(967-969)tCc>tTc	p.S323F		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	323					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGGGAAGTTCCAACATAATC	0.358000														102			55		0	0	0.003610	0	0
HIST1H2AK	8330	broad.mit.edu	37	6	27805876	27805876	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:27805876G>A	uc003njs.3	-	0	242	c.242C>T	c.(241-243)cCg>cTg	p.P81L	HIST1H2BN_uc003njt.1_5'Flank|HIST1H2BN_uc003nju.1_5'Flank|HIST1H2BN_uc003njv.3_5'Flank	NM_003510	NP_066408	P0C0S8	H2A1_HUMAN	Homo sapiens histone cluster 1, H2ak (HIST1H2AK), mRNA.	81					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						CAAGTGGCGCGGGATGATGCG	0.632000														99			41		0	0	0.009718	0	0
IFIH1	64135	broad.mit.edu	37	2	163134738	163134738	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:163134738C>T	uc002uce.3	-	8	1964	c.1742G>A	c.(1741-1743)tGg>tAg	p.W581*		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	581					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TTGAATGGCCCATTGTTCATA	0.328000														38			12		0	0	0.001368	0	0
FAM123A	219287	broad.mit.edu	37	13	25744419	25744419	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:25744419C>T	uc001uqb.3	-	0	1439	c.1339G>A	c.(1339-1341)Gag>Aag	p.E447K	FAM123A_uc001uqa.3_Missense_Mutation_p.E328K|FAM123A_uc001uqc.3_Missense_Mutation_p.E328K	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	Homo sapiens family with sequence similarity 123A (FAM123A), transcript variant 1, mRNA.	447										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CCCTGCTCCTCGGTCTGGGAG	0.657000														14			10		0	0	0.006214	0	0
TP63	8626	broad.mit.edu	37	3	189582116	189582116	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:189582116C>T	uc003fry.2	+	4	764	c.675C>T	c.(673-675)atC>atT	p.I225I	TP63_uc003frx.2_Silent_p.I225I|TP63_uc003frz.2_Silent_p.I225I|TP63_uc010hzc.1_Silent_p.I225I|TP63_uc003fsa.2_Silent_p.I131I|TP63_uc003fsb.2_Silent_p.I131I|TP63_uc003fsc.2_Silent_p.I131I|TP63_uc003fsd.2_Silent_p.I131I|TP63_uc021xir.1_Silent_p.I131I|TP63_uc010hzd.1_Silent_p.I46I|TP63_uc003fse.1_Silent_p.I106I	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	225					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GAGCTGTTATCCGCGCCATGC	0.527000										HNSCC(45;0.13)				93			38		0	0	0.006230	0	0
DNAH7	56171	broad.mit.edu	37	2	196891640	196891640	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:196891640C>T	uc002utj.4	-	6	612	c.511G>A	c.(511-513)Gga>Aga	p.G171R		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	171	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTATCAATTCCATGGTGAATA	0.333000														30			11		0	0	0.001855	0	0
IQCH	64799	broad.mit.edu	37	15	67664767	67664767	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:67664767C>T	uc002aqo.2	+	8	1169	c.1072C>T	c.(1072-1074)Ctt>Ttt	p.L358F	IQCH_uc010ujv.2_Missense_Mutation_p.L177F|IQCH_uc002aqn.2_Missense_Mutation_p.L185F|IQCH_uc002aqp.2_Missense_Mutation_p.L110F|IQCH_uc002aqq.2_Missense_Mutation_p.L106F	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	358										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GCTGATAAATCTTCCAGGGCA	0.468000														141			30		0	0	0.008361	0	0
CLCN6	1185	broad.mit.edu	37	1	11897408	11897408	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:11897408C>T	uc001ate.4	+	19	2260	c.2147C>T	c.(2146-2148)cCc>cTc	p.P716L	CLCN6_uc010oat.2_Missense_Mutation_p.P432L|CLCN6_uc010oau.2_Missense_Mutation_p.P694L|CLCN6_uc010oba.1_5'Flank|CLCN6_uc010oav.1_5'Flank|CLCN6_uc010oay.1_5'Flank|CLCN6_uc010oax.1_5'Flank|CLCN6_uc010oaw.1_5'Flank|CLCN6_uc010oaz.1_5'Flank	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	716					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AGATACACTCCCTACCCCAAC	0.582000														78			36		0	0	0.009718	0	0
MRRF	92399	broad.mit.edu	37	9	125084878	125084878	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:125084878C>T	uc010mwa.3	+	6	1135	c.771C>T	c.(769-771)acC>acT	p.T257T	MRRF_uc011lyr.2_Silent_p.T205T|MRRF_uc004bme.3_Non-coding_Transcript|MRRF_uc022bmy.1_3'UTR	NM_138777	NP_620132	Q96E11	RRFM_HUMAN	Homo sapiens mitochondrial ribosome recycling factor (MRRF), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	257					ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						CAGTGAAGACCAAAGAACTCC	0.532000														18			13		0	0	0.004990	0	0
PAF1	54623	broad.mit.edu	37	19	39879204	39879204	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:39879204C>T	uc002old.3	-	9	1028	c.853G>A	c.(853-855)Gat>Aat	p.D285N	PAF1_uc010xuv.2_Non-coding_Transcript|PAF1_uc002ole.1_Missense_Mutation_p.D275N|MED29_uc002olf.3_5'Flank|MED29_uc010xux.2_5'Flank	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Homo sapiens Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) (PAF1), mRNA.	285					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ACGCACACATCATCTGGTGCA	0.507000														67			46		0	0	0.003214	0	0
MAP7	9053	broad.mit.edu	37	6	136687023	136687023	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:136687023C>T	uc011edg.2	-	9	1462	c.1213G>A	c.(1213-1215)Gaa>Aaa	p.E405K	MAP7_uc011edf.2_Missense_Mutation_p.E360K|MAP7_uc010kgu.3_Missense_Mutation_p.E397K|MAP7_uc011edh.2_Missense_Mutation_p.E360K|MAP7_uc010kgv.3_Missense_Mutation_p.E397K|MAP7_uc010kgs.3_Missense_Mutation_p.E229K|MAP7_uc011edi.2_Missense_Mutation_p.E229K|MAP7_uc010kgq.2_Missense_Mutation_p.E281K|MAP7_uc003qgz.3_Missense_Mutation_p.E375K|MAP7_uc003qha.2_Missense_Mutation_p.E338K|MAP7_uc010kgr.2_Missense_Mutation_p.E229K	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	375	Pro-rich.				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		ACTTTGACTTCCCTCTTGACA	0.567000														66			40		0	0	0.009718	0	0
CACNG5	27091	broad.mit.edu	37	17	64881232	64881232	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:64881232G>A	uc010wqi.2	+	5	940	c.703G>A	c.(703-705)Gac>Aac	p.D235N	CACNG5_uc010wqj.2_Missense_Mutation_p.D235N	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), mRNA.	235				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CCTACACCCAGACGCCTGGGT	0.637000														39			11		0	0	0.000978	0	0
FCGBP	8857	broad.mit.edu	37	19	40434209	40434209	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:40434209C>T	uc002omp.4	-	1	68	c.60G>A	c.(58-60)ttG>ttA	p.L20L		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	20						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCTCCTGGGTCAATCCTGGTT	0.507000														40			10		0	0	0.008291	0	0
COL6A3	1293	broad.mit.edu	37	2	238303473	238303473	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:238303473C>T	uc002vwl.2	-	2	751	c.466G>A	c.(466-468)Gat>Aat	p.D156N	COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Intron|COL6A3_uc002vwr.3_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.D156N	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	156	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCAAGGCCATCCTTCGAGTGT	0.498000														48			23		0	0	0.002780	0	0
SLC30A3	7781	broad.mit.edu	37	2	27481762	27481762	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:27481762T>C	uc002rjk.3	-	1	322	c.136A>G	c.(136-138)Aaa>Gaa	p.K46E	SLC30A3_uc002rjj.3_5'Flank|SLC30A3_uc010ylh.2_Missense_Mutation_p.K41E	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 3 (SLC30A3), mRNA.	46					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCACAGGTTTGGACTCCTCA	0.637000														30			17		0	0	0.006122	0	0
UHRF2	115426	broad.mit.edu	37	9	6460786	6460786	+	Silent	SNP	C	T	T	rs142780701		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:6460786C>T	uc003zjy.3	+	3	1198	c.858C>T	c.(856-858)ttC>ttT	p.F286F	UHRF2_uc003zjz.3_Non-coding_Transcript|UHRF2_uc003zka.1_Silent_p.F63F	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN	Homo sapiens ubiquitin-like with PHD and ring finger domains 2 (UHRF2), mRNA.	286	Interaction with PCNP.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		TGAAAATTTTCCTGGGGTAAG	0.353000														20			13		0	0	0.001368	0	0
NUP210L	91181	broad.mit.edu	37	1	153974357	153974357	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:153974357C>T	uc001fdw.3	-	35	5107	c.5035G>A	c.(5035-5037)Gaa>Aaa	p.E1679K	NUP210L_uc009woq.3_Missense_Mutation_p.E588K|NUP210L_uc010peh.2_Intron	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1679						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTGCTACGTTCACTGACCAGT	0.473000														51			31		0	0	0.008361	0	0
LPHN3	23284	broad.mit.edu	37	4	62363054	62363054	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:62363054C>T	uc010ihh.3	+	0	216	c.43C>T	c.(43-45)Cca>Tca	p.P15S	LPHN3_uc003hcq.4_Missense_Mutation_p.P15S|LPHN3_uc010ihg.1_Missense_Mutation_p.P15S	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	15					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GCTCTTAGCTCCAATAATTCA	0.378000														18			5		0	0	0.003080	0	0
MYPN	84665	broad.mit.edu	37	10	69926302	69926302	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:69926302G>A	uc001jnm.4	+	10	2037	c.1852G>A	c.(1852-1854)Gtg>Atg	p.V618M	MYPN_uc001jnl.1_Missense_Mutation_p.V618M|MYPN_uc001jnn.4_Missense_Mutation_p.V343M|MYPN_uc001jno.4_Missense_Mutation_p.V618M|MYPN_uc009xps.3_Missense_Mutation_p.V618M|MYPN_uc009xpt.3_Missense_Mutation_p.V618M|MYPN_uc010qit.2_Missense_Mutation_p.V324M|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	618						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GGCTGGTGTGGTGACCACCAG	0.577000														24			22		0	0	0.002780	0	0
BAI3	577	broad.mit.edu	37	6	70064192	70064192	+	Missense_Mutation	SNP	C	T	T	rs142863825		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:70064192C>T	uc010kak.3	+	25	3803	c.3527C>T	c.(3526-3528)tCg>tTg	p.S1176L	BAI3_uc003pev.4_Missense_Mutation_p.S1176L|BAI3_uc011dxx.2_Missense_Mutation_p.S382L	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1176	Poly-Ser.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCTTCGAGTTCGTTTCCTAAT	0.393000														82			32		0	0	0.004289	0	0
FRMPD4	9758	broad.mit.edu	37	X	12516910	12516910	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:12516910C>T	uc004cuz.2	+	1	659	c.153C>T	c.(151-153)ttC>ttT	p.F51F	FRMPD4_uc011mij.2_Silent_p.F43F	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	51	WW.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAGACTACTTCATCAAGTAGG	0.488000														11			22		0	0	0.003954	0	0
PDE1B	5153	broad.mit.edu	37	12	54967154	54967154	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:54967154C>T	uc001sgd.2	+	8	1245	c.852C>T	c.(850-852)atC>atT	p.I284I	PDE1B_uc010soz.2_Silent_p.I147I|PDE1B_uc010spa.1_Silent_p.I243I|PDE1B_uc001sge.3_Silent_p.I264I|PDE1B_uc001sgf.3_Silent_p.I147I|PDE1B_uc009znq.3_Silent_p.I80I	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	284	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						AATGTGCCATCGTGTACAATG	0.522000														75			27		0	0	0.008361	0	0
RPRD2	23248	broad.mit.edu	37	1	150444353	150444354	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:150444353_150444354CC>AT	uc009wlr.3	+	10	3130_3131	c.2929_2930CC>AT	c.(2929-2931)ccg>ATg	p.P977M	RPRD2_uc010pcc.1_Intron|RPRD2_uc001eup.4_Missense_Mutation_p.P951M	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	977							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCTTTTCTCTCCGCAGAACACC	0.554000														177			95		0	0	0.004672	0	0
HSPA12B	116835	broad.mit.edu	37	20	3719337	3719337	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:3719337G>A	uc002wjd.3	+	1	158	c.16G>A	c.(16-18)Gag>Aag	p.E6K	HSPA12B_uc010zqj.2_5'UTR|HSPA12B_uc010zqi.2_Missense_Mutation_p.E6K|HSPA12B_uc002wje.3_5'UTR	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN	Homo sapiens heat shock 70kD protein 12B (HSPA12B), transcript variant 1, mRNA.	6							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						GGCTGTCCCGGAGATGGGCCT	0.552000														65			33		0	0	0.003271	0	0
ATL3	25923	broad.mit.edu	37	11	63398562	63398562	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:63398562G>A	uc001nxk.1	-	11	1765	c.1489C>T	c.(1489-1491)Cgt>Tgt	p.R497C	ATL3_uc010rms.1_Missense_Mutation_p.R479C|ATL3_uc010rmr.1_Missense_Mutation_p.R155C	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	Homo sapiens atlastin GTPase 3 (ATL3), mRNA.	497					Golgi organization|endoplasmic reticulum organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						CCCAGCTCACGATATTGACCA	0.483000														37			19		0	0	0.010504	0	0
B3GNT3	10331	broad.mit.edu	37	19	17922701	17922701	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:17922701G>A	uc002nhl.1	+	2	1036	c.889G>A	c.(889-891)Gat>Aat	p.D297N	B3GNT3_uc010ebd.1_Missense_Mutation_p.D297N|B3GNT3_uc010ebe.1_Missense_Mutation_p.D297N	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	297					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	p.D297D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CCCCATTGATGATGTCTTCCT	0.627000														95			33		0	0	0.004289	0	0
REV1	51455	broad.mit.edu	37	2	100020940	100020940	+	Silent	SNP	T	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:100020940T>G	uc002tad.3	-	17	3224	c.3012A>C	c.(3010-3012)ggA>ggC	p.G1004G	REV1_uc002tac.3_Silent_p.G1003G	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	1004					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTAAATTTATTCCTGCGTCAC	0.423000								Direct reversal of damage						92			31		0	0	0.009535	0	0
NOS1AP	9722	broad.mit.edu	37	1	162336865	162336865	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:162336865G>A	uc001gbv.2	+	9	1516	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K	NOS1AP_uc001gbw.2_Missense_Mutation_p.E372K|NOS1AP_uc010pks.1_Non-coding_Transcript|NOS1AP_uc009wut.1_Missense_Mutation_p.E82K	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	377					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CAGCTTGCTGGAGATCACCTT	0.657000														123			34		0	0	0.006230	0	0
TAF1L	138474	broad.mit.edu	37	9	32630810	32630810	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:32630810C>T	uc003zrg.1	-	0	4858	c.4768G>A	c.(4768-4770)Gat>Aat	p.D1590N	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1590	Bromo 2.				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			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)		AGGTTTACATCATCTAGAAAA	0.388000														35			17		0	0	0.006122	0	0
ATCAY	85300	broad.mit.edu	37	19	3907802	3907802	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:3907802G>A	uc010xhz.2	+	5	930	c.447G>A	c.(445-447)acG>acA	p.T149T	ATCAY_uc002lyy.4_Silent_p.T143T|ATCAY_uc010dts.3_5'Flank			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	143					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		ACGGCACGACGGAGGACGGCA	0.637000														47			27		0	0	0.002096	0	0
OR52N2	390077	broad.mit.edu	37	11	5841606	5841606	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:5841606T>A	uc010qzp.2	+	0	41	c.41T>A	c.(40-42)tTt>tAt	p.F14Y	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F14C(2)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGGATTCTTTATCTTGAAT	0.512000														41			30		0	0	0.002096	0	0
RETNLB	84666	broad.mit.edu	37	3	108475427	108475427	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:108475427G>A	uc003dxh.2	-	1	234	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S		NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN	Homo sapiens resistin like beta (RETNLB), mRNA.	46					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						ATAGGAGAGGGACTGTACTCT	0.512000														46			24		0	0	0.004656	0	0
TAS2R13	50838	broad.mit.edu	37	12	11061051	11061051	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:11061051G>A	uc001qzg.1	-	0	1111	c.847C>T	c.(847-849)Cta>Tta	p.L283L	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron	NM_023920	NP_076409	Q9NYV9	T2R13_HUMAN	Homo sapiens taste receptor, type 2, member 13 (TAS2R13), mRNA.	283					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GCGTTTCCTAGAATCAGAAGA	0.428000														24			20		0	0	0.010504	0	0
POM121L12	285877	broad.mit.edu	37	7	53103793	53103793	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:53103793C>T	uc003tpz.3	+	0	445	c.429C>T	c.(427-429)ccC>ccT	p.P143P		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	143								p.A142V(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGATCGCGCCCCCTGAGCGTC	0.711000														20			12		0	0	0.002450	0	0
NOX3	50508	broad.mit.edu	37	6	155764548	155764548	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:155764548G>A	uc003qqm.3	-	4	448	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	115	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CCACGATGTGGATGGCTAGGA	0.527000														25			12		0	0	0.001368	0	0
AMPD3	272	broad.mit.edu	37	11	10506366	10506366	+	Splice_Site	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:10506366G>A	uc001min.1	+	5	962	c.617_splice	c.e5-1	p.D206_splice	AMPD3_uc010rbz.1_Splice_Site_p.D38_splice|AMPD3_uc009yfw.1_Intron|AMPD3_uc009yfx.1_Splice_Site_p.D197_splice|AMPD3_uc001mio.1_Splice_Site_p.D197_splice|AMPD3_uc009yfz.2_Splice_Site|AMPD3_uc001mip.1_Splice_Site_p.D204_splice|AMPD3_uc009yfy.2_Splice_Site_p.D197_splice	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	197					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CTGTTTTGCAGACTTCCACCC	0.582000														78			30		0	0	0.009535	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208831	140208831	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140208831G>A	uc003lho.2	+	0	1182	c.1155G>A	c.(1153-1155)gtG>gtA	p.V385V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Silent_p.V385V|PCDHAC2_uc011dab.2_Silent_p.V385V	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	400	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGGCAGGTGAACTGCTCGC	0.542000														127			57		0	0	0.003610	0	0
NNAT	4826	broad.mit.edu	37	20	36151112	36151112	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:36151112G>A	uc002xhd.3	+	2	324	c.197G>A	c.(196-198)cGg>cAg	p.R66Q	BLCAP_uc021wde.1_Intron|BLCAP_uc021wdf.1_Intron|BLCAP_uc002xhb.3_Intron|BLCAP_uc002xha.3_Intron|BLCAP_uc002xhc.3_Intron|NNAT_uc002xhe.3_Missense_Mutation_p.R39Q	NM_005386	NP_005377	Q16517	NNAT_HUMAN	Homo sapiens neuronatin (NNAT), transcript variant 1, mRNA.	66					brain development|protein lipoylation|transport					endometrium(1)|kidney(1)|lung(1)	3		Myeloproliferative disorder(115;0.00878)				ACGGTGTCGCGGACCGGGCGG	0.652000														18			11		0	0	0.001855	0	0
ANKS1B	56899	broad.mit.edu	37	12	99898353	99898353	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:99898353G>A	uc001tge.2	-	9	1756	c.1339C>T	c.(1339-1341)Cct>Tct	p.P447S	ANKS1B_uc001tgf.2_Missense_Mutation_p.P27S|ANKS1B_uc009ztt.1_Missense_Mutation_p.P413S	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	447						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)		TTTTCTGAAGGAAATGTATCC	0.388000														14			10		0	0	0.006214	0	0
MAN2C1	4123	broad.mit.edu	37	15	75652466	75652466	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:75652466G>T	uc002bah.3	-	13	1688	c.1671C>A	c.(1669-1671)ttC>ttA	p.F557L	MAN2C1_uc010bkk.3_Missense_Mutation_p.F458L|MAN2C1_uc002baf.3_Missense_Mutation_p.F557L|MAN2C1_uc002bag.3_Missense_Mutation_p.F557L|MAN2C1_uc010umi.1_Missense_Mutation_p.F339L			Q9NTJ4	MA2C1_HUMAN	Homo sapiens mannosidase, alpha, class 2C, member 1 (MAN2C1), mRNA.	557					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CTGGGTATAGGAACTGGGCAC	0.627000														213			41		2.77807e-22	3.20015e-22	0.003214	1	0
C1QTNF9B	387911	broad.mit.edu	37	13	24466191	24466191	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:24466191C>T	uc010tcw.2	-	2	259	c.239G>A	c.(238-240)gGa>gAa	p.G80E	MIPEP_uc001uox.4_5'Flank|C1QTNF9B-AS1_uc001uoy.3_3'UTR|C1QTNF9B-AS1_uc009zzx.3_3'UTR|C1QTNF9B_uc010tcv.1_Missense_Mutation_p.E88K|C1QTNF9B_uc001uoz.1_Missense_Mutation_p.G80E|C1QTNF9B_uc010tcx.2_Missense_Mutation_p.G80E	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9B (C1QTNF9B), mRNA.	80	Collagen-like 1.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TTCAACTTTTCCATCTGCTCC	0.433000														60			26		0	0	0.004289	0	0
ATP10B	23120	broad.mit.edu	37	5	160063277	160063277	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:160063277G>A	uc003lym.1	-	10	1887	c.1040C>T	c.(1039-1041)cCc>cTc	p.P347L	ATP10B_uc003lyp.2_Missense_Mutation_p.P347L|ATP10B_uc011deg.1_Missense_Mutation_p.P391L|ATP10B_uc003lyn.3_5'Flank|ATP10B_uc003lyo.2_Missense_Mutation_p.P319L	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	347					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACATCGAAGGGAGGGTGTTC	0.512000														55			20		0	0	0.001882	0	0
TF	7018	broad.mit.edu	37	3	133495981	133495981	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:133495981C>G	uc003epu.2	+	20	3689	c.1961C>G	c.(1960-1962)aCa>aGa	p.T654R	TF_uc011blt.2_Missense_Mutation_p.T527R|TF_uc003epw.2_Missense_Mutation_p.T93R|TF_uc003epv.2_Missense_Mutation_p.T654R	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	654	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	AGAGATGACACAGTATGTTTG	0.428000														34			23		0	0	0.002780	0	0
abParts	0	broad.mit.edu	37	15	22473167	22473167	+	RNA	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:22473167T>C	uc001yuj.2	-	6		c.161A>G								Parts of antibodies, mostly variable regions.																		GGACAGGGTCTCCGAAGGCTT	0.632000														57			22		0	0	0.003330	0	0
TBCD	6904	broad.mit.edu	37	17	80828236	80828236	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:80828236C>T	uc002kfy.1	+	13	1585	c.1455C>T	c.(1453-1455)ccC>ccT	p.P485P	TBCD_uc002kfx.1_Silent_p.P468P|TBCD_uc002kfz.3_Silent_p.P485P	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	485					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	GTPase activator activity|beta-tubulin binding|chaperone binding					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			AGCTGAAGCCCTTTGTGACTG	0.642000														11			6		0	0	0.001168	0	0
OR5B17	219965	broad.mit.edu	37	11	58126225	58126225	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:58126225G>A	uc010rke.2	-	0	318	c.318C>T	c.(316-318)gcC>gcT	p.A106A		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TTTCCACAGTGGCAAAGACTG	0.478000														23			15		0	0	0.002450	0	0
TRIM54	57159	broad.mit.edu	37	2	27505700	27505700	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:27505700C>T	uc002rjo.3	+	0	404	c.101C>T	c.(100-102)tCc>tTc	p.S34F	TRIM54_uc002rjn.3_Missense_Mutation_p.S34F	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	Homo sapiens tripartite motif containing 54 (TRIM54), transcript variant 2, mRNA.	34					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)					GAGATGTTCTCCAAACCAGTG	0.577000														158			70		0	0	0.003610	0	0
RASGRF1	5923	broad.mit.edu	37	15	79298727	79298727	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:79298727T>A	uc002beq.3	-	14	2290	c.1915A>T	c.(1915-1917)Acc>Tcc	p.T639S	RASGRF1_uc002bep.3_Missense_Mutation_p.T626S|RASGRF1_uc010blm.1_Missense_Mutation_p.T548S|RASGRF1_uc002ber.4_Missense_Mutation_p.T626S|RASGRF1_uc010unh.1_Missense_Mutation_p.T34S	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	639					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GAGTTCATGGTTTTGCTGAAG	0.542000														105			24		0	0	0.003954	0	0
OR2T34	127068	broad.mit.edu	37	1	248737121	248737121	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:248737121C>T	uc001iep.1	-	0	938	c.938G>A	c.(937-939)aGa>aAa	p.R313K		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R313R(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGGTTCATTCTTGACTGCAT	0.478000														31			17		0	0	0.007413	0	0
SORCS2	57537	broad.mit.edu	37	4	7716918	7716918	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:7716918G>A	uc003gkb.4	+	16	2132	c.2132G>A	c.(2131-2133)gGa>gAa	p.G711E	SORCS2_uc011bwi.2_Missense_Mutation_p.G539E	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	711						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						AGCGACTACGGATTTGAGCGC	0.597000														58			38		0	0	0.002522	0	0
MAP3K10	4294	broad.mit.edu	37	19	40720917	40720917	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:40720917C>T	uc002ona.3	+	9	2871	c.2583C>T	c.(2581-2583)ccC>ccT	p.P861P		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	861					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TGCCCGACCCCCAGGCCCTGT	0.701000														22			17		0	0	0.007413	0	0
OR14C36	127066	broad.mit.edu	37	1	248512753	248512753	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:248512753T>A	uc010pzl.2	+	0	677	c.677T>A	c.(676-678)tTt>tAt	p.F226Y		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GTGCTCGGGTTTCCAAGAGGA	0.498000														71			13		0	0	0.001855	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117982500	117982500	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:117982500G>A	uc021qrd.1	+	7	919	c.628G>A	c.(628-630)Gag>Aag	p.E210K	TMPRSS4_uc009yzu.3_Non-coding_Transcript|TMPRSS4_uc021qre.1_Missense_Mutation_p.E205K|TMPRSS4_uc010rxo.2_Missense_Mutation_p.E208K|TMPRSS4_uc010rxs.2_Missense_Mutation_p.E170K|TMPRSS4_uc010rxq.2_Missense_Mutation_p.E63K|TMPRSS4_uc010rxr.2_Missense_Mutation_p.E185K|TMPRSS4_uc010rxt.2_Missense_Mutation_p.E185K	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.	210	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		GGGTGTGGAGGAGGCCTCTGT	0.632000														40			13		0	0	0.001855	0	0
GLRA1	2741	broad.mit.edu	37	5	151234728	151234728	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:151234728C>T	uc003lut.3	-	5	857	c.570G>A	c.(568-570)acG>acA	p.T190T	GLRA1_uc003lur.3_Silent_p.T190T|GLRA1_uc003lus.3_Silent_p.T107T	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	190					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGTCATTCATCGTATATCCAA	0.483000														53			37		0	0	0.004878	0	0
KIAA1804	84451	broad.mit.edu	37	1	233514909	233514909	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:233514909G>A	uc001hvt.4	+	8	2418	c.2157G>A	c.(2155-2157)acG>acA	p.T719T	KIAA1804_uc001hvu.4_Silent_p.T165T	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	719					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GAAAGAAAACGGAGTCAGCTC	0.547000														34			28		0	0	0.005443	0	0
MMP27	64066	broad.mit.edu	37	11	102573832	102573832	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:102573832G>A	uc001phd.1	-	2	382	c.359C>T	c.(358-360)cCg>cTg	p.P120L		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.	120					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.P120L(2)|p.P120P(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		TGCCATATCCGGAGTATAGTT	0.348000														32			10		0	0	0.006214	0	0
SPTB	6710	broad.mit.edu	37	14	65239632	65239632	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:65239632C>T	uc001xht.3	-	24	5270	c.5219G>A	c.(5218-5220)gGg>gAg	p.G1740E	SPTB_uc001xhr.3_Missense_Mutation_p.G1740E|SPTB_uc001xhs.3_Missense_Mutation_p.G1740E|SPTB_uc001xhu.3_Missense_Mutation_p.G1740E|SPTB_uc010aqi.3_Missense_Mutation_p.G401E	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1740					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCCAATCGCCCCGGTCTCCCG	0.627000														24			6		0	0	0.003080	0	0
COL4A4	1286	broad.mit.edu	37	2	227922198	227922198	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:227922198C>T	uc021vxr.1	-	27	2603	c.2502G>A	c.(2500-2502)ggG>ggA	p.G834G	COL4A4_uc021vxs.1_Silent_p.G834G	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	834	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GCCCTGGTATCCCTGGAGCAC	0.542000														16			7		0	0	0.003080	0	0
PEG3	5178	broad.mit.edu	37	19	57327958	57327958	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:57327958G>A	uc002qnu.2	-	6	2203	c.1852C>T	c.(1852-1854)Cag>Tag	p.Q618*	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Nonsense_Mutation_p.Q589*|PEG3_uc002qnv.2_Nonsense_Mutation_p.Q618*|PEG3_uc002qnw.2_Nonsense_Mutation_p.Q494*|PEG3_uc002qnx.2_Nonsense_Mutation_p.Q492*|PEG3_uc010etr.2_Nonsense_Mutation_p.Q618*	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	618					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TACATTTTCTGAAACTCATTA	0.448000														19			6		0	0	0.001168	0	0
CWH43	80157	broad.mit.edu	37	4	49005875	49005875	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:49005875G>A	uc003gyv.3	+	6	1108	c.926G>A	c.(925-927)gGg>gAg	p.G309E	CWH43_uc011bzl.2_Missense_Mutation_p.G282E	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	309					GPI anchor biosynthetic process	integral to membrane		p.G309G(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						ATTAACTCAGGGACAAACCCT	0.463000														46			8		0	0	0.003080	0	0
BMPER	168667	broad.mit.edu	37	7	34091495	34091495	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:34091495C>T	uc011kap.2	+	8	1073	c.699C>T	c.(697-699)ctC>ctT	p.L233L		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	233					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGTTTGACCTCCCTTTTGGGA	0.458000														93			43		0	0	0.003610	0	0
HSPBAP1	79663	broad.mit.edu	37	3	122459599	122459599	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:122459599T>C	uc003efu.2	-	7	1199	c.1060A>G	c.(1060-1062)Atg>Gtg	p.M354V	HSPBAP1_uc003eft.2_Missense_Mutation_p.M65V	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN	Homo sapiens HSPB (heat shock 27kDa) associated protein 1 (HSPBAP1), mRNA.	354						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TCCTTTTTCATGTGCTCTCCA	0.458000														127			62		0	0	0.003610	0	0
GYPA	2993	broad.mit.edu	37	4	144920579	144920579	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:144920579G>A	uc003ijm.1	-	2	216	c.160C>T	c.(160-162)Cgt>Tgt	p.R54C	GYPA_uc003ijn.2_Intron|GYPA_uc010ioo.1_Non-coding_Transcript|GYPA_uc010iop.2_Non-coding_Transcript|GYPA_uc011chv.1_Non-coding_Transcript|GYPA_uc011chw.1_Non-coding_Transcript|GYPA_uc011chx.1_Intron|GYPA_uc011chy.1_Non-coding_Transcript|GYPA_uc011chs.1_Non-coding_Transcript|GYPA_uc011cht.1_Non-coding_Transcript|GYPA_uc011chu.1_Non-coding_Transcript|GYPA_uc011chz.2_Non-coding_Transcript	NM_002100	NP_002091	P02724	GLPA_HUMAN	Homo sapiens glycophorin B (MNS blood group) (GYPB), mRNA.	86					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					ACAGTGAAACGATGGACAAGT	0.313000														15			4		0	0	0.009096	0	0
ZNF479	90827	broad.mit.edu	37	7	57200000	57200000	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:57200000C>T	uc010kzo.3	-	1	303	c.32G>A	c.(31-33)cGa>cAa	p.R11Q		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CACCATTTCTCGGCTTCCAGG	0.552000														45			16		0	0	0.004990	0	0
STX19	415117	broad.mit.edu	37	3	93733721	93733721	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:93733721C>T	uc003drh.1	-	1	650	c.393G>A	c.(391-393)agG>agA	p.R131R	ARL13B_uc003drc.3_Intron|ARL13B_uc010hop.3_Intron|ARL13B_uc003drf.3_Intron|ARL13B_uc003drg.3_Intron|ARL13B_uc003drd.3_Intron|ARL13B_uc003dre.3_Intron|STX19_uc021xbj.1_Silent_p.R131R	NM_001001850	NP_001001850	Q8N4C7	STX19_HUMAN	Homo sapiens syntaxin 19 (STX19), mRNA.	131					intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity			kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						ATTTAAGTATCCTTGTGACCA	0.353000														95			37		0	0	0.005524	0	0
PLAU	5328	broad.mit.edu	37	10	75676277	75676277	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:75676277C>T	uc001jwa.3	+	10	1396	c.1250C>T	c.(1249-1251)cCc>cTc	p.P417L	C10orf55_uc001jvz.2_Splice_Site|PLAU_uc010qkw.2_Missense_Mutation_p.P400L|PLAU_uc010qkx.2_Missense_Mutation_p.P331L|PLAU_uc001jwb.3_Non-coding_Transcript|PLAU_uc001jwc.3_Missense_Mutation_p.P417L|PLAU_uc009xrq.1_Missense_Mutation_p.P381L	NM_002658	NP_002649	P00749	UROK_HUMAN	Homo sapiens plasminogen activator, urokinase (PLAU), transcript variant 1, mRNA.	417	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	CACTTCTTACCCTGGATCCGC	0.572000														13			4		0	0	0.001168	0	0
OR2G3	81469	broad.mit.edu	37	1	247769766	247769766	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:247769766G>A	uc010pyz.2	+	0	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATACTTTAAGGAACAAGGATA	0.423000														53			22		0	0	0.002780	0	0
MLL	4297	broad.mit.edu	37	11	118359392	118359392	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:118359392C>T	uc001pta.3	+	10	4419	c.4396C>T	c.(4396-4398)Cct>Tct	p.P1466S	MLL_uc001ptb.3_Missense_Mutation_p.P1466S|MLL_uc001pte.1_Non-coding_Transcript	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	1466					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GAACGAGCGCCCTCTGGAGGA	0.433000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									31			30		0	0	0.002096	0	0
NALCN	259232	broad.mit.edu	37	13	101717830	101717830	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:101717830G>A	uc001vox.1	-	39	4719	c.4530C>T	c.(4528-4530)ctC>ctT	p.L1510L		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1510						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTTAAACAGGAGCTTGTCCT	0.602000														71			20		0	0	0.007413	0	0
PTGS2	5743	broad.mit.edu	37	1	186645691	186645691	+	Missense_Mutation	SNP	C	T	T	rs148160346		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:186645691C>T	uc001gsb.3	-	6	1015	c.878G>A	c.(877-879)cGg>cAg	p.R293Q	PTGS2_uc009wyo.3_Missense_Mutation_p.R140Q	NM_000963	NP_000954	P35354	PGH2_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA.	293					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	p.R293L(3)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)|gamma-Homolinolenic acid(DB00154)	GTTGTGTTCCCGCAGCCAGAT	0.502000														52			10		0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179473616	179473616	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179473616G>A	uc021vsy.1	-	222	44643	c.44418C>T	c.(44416-44418)atC>atT	p.I14806I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.I8501I|TTN_uc021vta.1_Silent_p.I8434I|TTN_uc021vtb.1_Silent_p.I8309I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15733							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)			ATACAAAGTTGATTGGTGGTC	0.383000														105			39		0	0	0.002522	0	0
UBR3	130507	broad.mit.edu	37	2	170917924	170917924	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:170917924C>T	uc010zdi.2	+	34	4990	c.4990C>T	c.(4990-4992)Ctt>Ttt	p.L1664F	UBR3_uc002ufr.4_Non-coding_Transcript|UBR3_uc010fqa.3_Missense_Mutation_p.L485F|UBR3_uc002uft.4_Missense_Mutation_p.L521F|UBR3_uc010zdj.2_Missense_Mutation_p.L355F|UBR3_uc002ufu.4_Missense_Mutation_p.L170F	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 3 (putative) (UBR3), mRNA.	1664					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TCAGCACCACCTTTTTGGGGA	0.428000														94			42		0	0	0.003214	0	0
ITGA7	3679	broad.mit.edu	37	12	56096685	56096685	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:56096685G>A	uc001shh.3	-	2	605	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	ITGA7_uc001shg.3_Missense_Mutation_p.R129W|ITGA7_uc010sps.2_Intron|ITGA7_uc009znx.3_Missense_Mutation_p.R16W	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	129					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	p.R129W(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCCTGGCTCCGAACACTGACT	0.522000														58			18		0	0	0.007413	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160708785	160708785	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:160708785G>A	uc002ubb.4	-	20	2884	c.2810C>T	c.(2809-2811)tCg>tTg	p.S937L	LY75-CD302_uc010fos.3_Missense_Mutation_p.S937L|LY75-CD302_uc002ubc.4_Missense_Mutation_p.S937L	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	937					endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										TTTCTCTAACGAAGAAACATT	0.373000														41			17		0	0	0.004007	0	0
ZCCHC9	84240	broad.mit.edu	37	5	80600775	80600775	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:80600775T>A	uc003khk.4	+	1	689	c.199T>A	c.(199-201)Tac>Aac	p.Y67N	RNU5E-1_uc011cto.1_Intron|ZCCHC9_uc003khi.3_Missense_Mutation_p.Y67N|ZCCHC9_uc003khj.3_Missense_Mutation_p.Y67N	NM_032280	NP_115656	Q8N567	ZCHC9_HUMAN	Homo sapiens zinc finger, CCHC domain containing 9 (ZCCHC9), transcript variant 1, mRNA.	67							nucleic acid binding|zinc ion binding	p.E66*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		GAAAAAAGAGTACTTAAATGA	0.368000														26			20		0	0	0.008871	0	0
FAM5C	339479	broad.mit.edu	37	1	190067226	190067226	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:190067226C>T	uc001gse.1	-	7	2455	c.2223G>A	c.(2221-2223)agG>agA	p.R741R	FAM5C_uc010pot.1_Silent_p.R639R	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	741						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)					CAGATTGGATCCTCACCACCT	0.443000														78			23		0	0	0.001882	0	0
LMNA	4000	broad.mit.edu	37	1	156084913	156084914	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:156084913_156084914GG>AA	uc001fni.2	+	0	453_454	c.204_205GG>AA	c.(202-207)gaggtg>gaAAtg	p.V69M	LMNA_uc001fnf.1_Missense_Mutation_p.V69M|LMNA_uc001fng.2_Missense_Mutation_p.V69M|LMNA_uc001fnh.2_Missense_Mutation_p.V69M|LMNA_uc009wro.1_Missense_Mutation_p.V69M	NM_170707	NP_733821	P02545	LMNA_HUMAN	Homo sapiens lamin A/C (LMNA), transcript variant 1, mRNA.	69	Coil 1A.|Interaction with MLIP.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					AGTCTGAAGAGGTGGTCAGCCG	0.649000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome					231			47		0	0	0.004672	0	0
PCSK5	5125	broad.mit.edu	37	9	78911753	78911753	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:78911753G>A	uc004akc.2	+	26	4033	c.3495G>A	c.(3493-3495)aaG>aaA	p.K1165K		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	876					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ATGCCACCAAGACCCAGGAGG	0.577000														49			35		0	0	0.007835	0	0
MCM4	4173	broad.mit.edu	37	8	48885587	48885587	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:48885587C>T	uc003xqk.2	+	13	2925	c.2099C>T	c.(2098-2100)cCg>cTg	p.P700L	MCM4_uc003xql.2_Missense_Mutation_p.P700L|MCM4_uc011ldi.2_Missense_Mutation_p.P687L	NM_182746	NP_877423	P33991	MCM4_HUMAN	Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.	700					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				ACCATCATGCCGCGGCTAAGT	0.552000														32			7		0	0	0.001984	0	0
WDR49	151790	broad.mit.edu	37	3	167196684	167196684	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:167196684C>T	uc003fev.1	-	14	2380	c.2076G>A	c.(2074-2076)gtG>gtA	p.V692V	WDR49_uc003feu.1_Silent_p.V517V|WDR49_uc011bpd.1_Silent_p.V657V|WDR49_uc003few.1_3'UTR	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	692										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TATTTTTCTTCACTTCACAAC	0.318000														27			18		0	0	0.004990	0	0
VAMP7	6845	broad.mit.edu	37	X	155127842	155127842	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:155127842G>A	uc004fnr.3	+	3	449	c.271G>A	c.(271-273)Ggt>Agt	p.G91S	VAMP7_uc011naa.2_Missense_Mutation_p.G52S|VAMP7_uc011nab.2_5'UTR|VAMP7_uc004fnt.3_Missense_Mutation_p.G50S|VAMP7_uc004fns.3_Missense_Mutation_p.G91S|VAMP7_uc011nac.2_Missense_Mutation_p.G24S	NM_005638	NP_005629	P51809	VAMP7_HUMAN	Homo sapiens vesicle-associated membrane protein 7 (VAMP7), transcript variant 1, mRNA.	91	Longin.				ER to Golgi vesicle-mediated transport|calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	Golgi apparatus|SNARE complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GACTACTTACGGTTCAAGAGC	0.403000														79			66		0	0	0.003610	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515777	47515777	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:47515777C>T	uc001cqt.3	+	11	1711	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	CYP4X1_uc001cqr.3_Silent_p.F486F|CYP4X1_uc001cqs.3_Silent_p.F422F	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	487						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CTCTTACTTTCCCCAACCATT	0.448000														74			29		0	0	0.007291	0	0
OR56A5	390084	broad.mit.edu	37	11	5989304	5989304	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:5989304C>T	uc010qzu.2	-	0	421	c.421G>A	c.(421-423)Gat>Aat	p.D141N		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	141						integral to membrane|plasma membrane	olfactory receptor activity										ACAAATTGATCAGTGATGATG	0.483000														12			5		0	0	0.000602	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19444889	19444889	+	RNA	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:19444889G>A	uc010tcj.1	-	0		c.1221C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TGTTTAAGAAGGATGTTGACA	0.358000														26			6		0	0	0.001168	0	0
THSD7B	80731	broad.mit.edu	37	2	137990579	137990579	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:137990579G>A	uc002tva.1	+	7	1933	c.1933G>A	c.(1933-1935)Gac>Aac	p.D645N	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.D535N	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTGTTCTGAGGACACATTGGT	0.512000														54			27		0	0	0.005443	0	0
WDR36	134430	broad.mit.edu	37	5	110439611	110439611	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:110439611C>T	uc003kpd.3	+	6	1009	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C	WDR36_uc010jbu.3_Non-coding_Transcript	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	Homo sapiens WD repeat domain 36 (WDR36), mRNA.	298					rRNA processing|response to stimulus|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		AATTTCATTTCGCACAGGTAA	0.299000														52			15		0	0	0.004990	0	0
ZBED4	9889	broad.mit.edu	37	22	50277967	50277967	+	Silent	SNP	C	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:50277967C>A	uc003bix.2	+	1	1127	c.657C>A	c.(655-657)ccC>ccA	p.P219P	ZBED4_uc021wrx.1_Silent_p.P219P	NM_014838	NP_055653	O75132	ZBED4_HUMAN	Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA.	219						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)		TCCCGTCCCCCGATCGAATAA	0.547000														42			19		5.3912e-06	6.14912e-06	0.006122	1	0
NEB	4703	broad.mit.edu	37	2	152404006	152404006	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:152404006C>T	uc021vrb.1	-	103	15230	c.15201G>A	c.(15199-15201)atG>atA	p.M5067I	NEB_uc002txr.3_Missense_Mutation_p.M1533I|NEB_uc002txu.3_Missense_Mutation_p.M6768I|NEB_uc021vrc.1_Missense_Mutation_p.M6768I|NEB_uc010fnx.3_Missense_Mutation_p.M5055I|NEB_uc021vrd.1_Missense_Mutation_p.M5067I	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5067					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCAGAGAGATCATGTGGCCCT	0.413000														13			4		0	0	0.009096	0	0
RAVER1	125950	broad.mit.edu	37	19	10431579	10431579	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:10431579G>A	uc002moa.3	-	8	1653	c.1573C>T	c.(1573-1575)Ccc>Tcc	p.P525S	RAVER1_uc002mnz.3_5'Flank	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	525						cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TTCAGGTAGGGATTCAGGGGA	0.701000														28			6		0	0	0.004482	0	0
ZNF845	91664	broad.mit.edu	37	19	53854516	53854516	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:53854516C>T	uc010ydv.1	+	3	705	c.588C>T	c.(586-588)ttC>ttT	p.F196F	ZNF845_uc010ydw.1_Silent_p.F196F	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GGAATAATTTCCTGAATTCTT	0.363000														64			20		0	0	0.007413	0	0
PGBD2	267002	broad.mit.edu	37	1	249211020	249211020	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:249211020C>T	uc001ifh.3	+	2	384	c.237C>T	c.(235-237)gtC>gtT	p.V79V	PGBD2_uc001ifg.3_Intron|PGBD2_uc009xhd.3_Silent_p.V76V|PGBD2_uc021pmh.1_5'Flank	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.	79										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATGCTTCAGTCCTGTGTGAGG	0.572000														25			22		0	0	0.001882	0	0
BNC2	54796	broad.mit.edu	37	9	16552546	16552546	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:16552546G>A	uc003zml.3	-	4	791	c.651C>T	c.(649-651)gtC>gtT	p.V217V	BNC2_uc011lmw.2_Silent_p.V122V|BNC2_uc003zmm.3_Silent_p.V175V|BNC2_uc003zmq.1_Silent_p.V231V|BNC2_uc003zmr.1_Silent_p.V254V|BNC2_uc003zmp.1_Silent_p.V245V|BNC2_uc010mij.1_Silent_p.V139V|BNC2_uc011lmv.2_Silent_p.V43V|BNC2_uc003zmo.1_Silent_p.V139V	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	p.Y216N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TGTATCCTCGGACATAGTCCC	0.597000														10			11		0	0	0.008291	0	0
MAP3K9	4293	broad.mit.edu	37	14	71209294	71209294	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:71209294C>T	uc001xmm.3	-	5	1341	c.1341G>A	c.(1339-1341)tgG>tgA	p.W447*	MAP3K9_uc010ttk.2_Nonsense_Mutation_p.W184*|MAP3K9_uc001xmk.3_Nonsense_Mutation_p.W141*|MAP3K9_uc001xml.3_Nonsense_Mutation_p.W447*	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	447	Leucine-zipper 1.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCTCCTCCTCCCAGGTGCGAA	0.637000														17			11		0	0	0.001368	0	0
LOC644936	644936	broad.mit.edu	37	5	79595749	79595749	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:79595749G>A	uc010jai.3	-	0	549	c.408C>T	c.(406-408)gaC>gaT	p.D136D						Homo sapiens actin, beta pseudogene (LOC644936), non-coding RNA.																		TGGCATACAGGTCTTTGTAGA	0.527000														27			9		0	0	0.006214	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140215791	140215791	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140215791C>T	uc003lhq.2	+	0	1823	c.1823C>T	c.(1822-1824)tCg>tTg	p.S608L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.S608L	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	621	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGCTTTCGTATGAGTTG	0.637000														53			26		0	0	0.003330	0	0
ASIC2	40	broad.mit.edu	37	17	31438965	31438965	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:31438965C>T	uc002hht.3	-	1	1702	c.829G>A	c.(829-831)Gat>Aat	p.D277N	ASIC2_uc002hhu.3_Missense_Mutation_p.D226N	NM_183377	NP_899233	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA.	226					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	AGGTACTCATCCTGCTGAATG	0.587000														61			11		0	0	0.000978	0	0
SDR42E1	93517	broad.mit.edu	37	16	82032955	82032955	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:82032955C>T	uc002fgu.3	-	2	1071	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	315					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						TTGTAAACTTCAGTGCGAGTG	0.448000														16			19		0	0	0.008871	0	0
CHST12	55501	broad.mit.edu	37	7	2472524	2472524	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:2472524C>T	uc003smc.3	+	1	413	c.250C>T	c.(250-252)Ccc>Tcc	p.P84S	CHST12_uc003smd.3_Missense_Mutation_p.P84S|CHST12_uc021zyu.1_Missense_Mutation_p.P84S|CHST12_uc021zyv.1_Missense_Mutation_p.P84S	NM_001243794	NP_001230723	Q9NRB3	CHSTC_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 12 (CHST12), transcript variant 1, mRNA.	84					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GAGCGACCTTCCCAGAAAGGA	0.677000														40			23		0	0	0.003954	0	0
KY	339855	broad.mit.edu	37	3	134329038	134329038	+	Splice_Site	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:134329038G>A	uc010hty.3	-	9	961	c.899_splice	c.e9+1	p.L300_splice	KY_uc011blw.2_Splice_Site_p.L300_splice|KY_uc011blx.2_Splice_Site_p.L279_splice|KY_uc003eqr.1_Splice_Site_p.L66_splice	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	Homo sapiens kyphoscoliosis peptidase (KY), mRNA.	300						Z disc|cytoskeleton	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						AGTACTTACAGGAAGGTGAAT	0.592000														62			28		0	0	0.003271	0	0
TIMP3	7078	broad.mit.edu	37	22	33253286	33253286	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:33253286A>T	uc003anb.3	+	2	1441	c.255A>T	c.(253-255)gaA>gaT	p.E85D	SYN3_uc003amx.3_Intron|SYN3_uc003amy.3_Intron|SYN3_uc003amz.3_Intron	NM_000362	NP_000353	P35625	TIMP3_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 3 (TIMP3), mRNA.	85	NTR.				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						TCCATACGGAAGCTTCCGAGA	0.517000														67			23		0	0	0.005443	0	0
TSNARE1	203062	broad.mit.edu	37	8	143425434	143425434	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:143425434G>A	uc003ywj.3	-	2	677	c.638C>T	c.(637-639)tCc>tTc	p.S213F	TSNARE1_uc011lju.2_Missense_Mutation_p.S213F|TSNARE1_uc003ywk.3_Missense_Mutation_p.S213F|TSNARE1_uc003ywl.4_Intron	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	213					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGGCTTGCCGGAACCAGGGCT	0.697000														30			11		0	0	0.001368	0	0
LHX4	89884	broad.mit.edu	37	1	180243418	180243418	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:180243418G>A	uc001goe.2	+	5	1109	c.877G>A	c.(877-879)Gac>Aac	p.D293N	LOC100527964_uc001gof.2_Intron	NM_033343	NP_203129	Q969G2	LHX4_HUMAN	Homo sapiens LIM homeobox 4 (LHX4), mRNA.	293						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						CTTCTCCATGGACGGGACAGG	0.527000														89			25		0	0	0.003330	0	0
EFCAB6	64800	broad.mit.edu	37	22	43972300	43972300	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:43972300C>T	uc003bdy.2	-	25	3611	c.3297G>A	c.(3295-3297)aaG>aaA	p.K1099K	EFCAB6_uc003bdz.2_Silent_p.K947K|EFCAB6_uc010gzi.2_Silent_p.K947K|EFCAB6_uc010gzj.1_Silent_p.K325K	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1099	EF-hand 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.K1099Q(1)|p.L1098I(1)|p.L1098V(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AACAGAAATCCTTAAGAACTT	0.318000														65			23		0	0	0.004656	0	0
CCR4	1233	broad.mit.edu	37	3	32995348	32995348	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:32995348C>T	uc003cfg.1	+	1	602	c.434C>T	c.(433-435)tCc>tTc	p.S145F	CCR4_uc021wuw.1_Missense_Mutation_p.S145F	NM_005508	NP_005499	P51679	CCR4_HUMAN	Homo sapiens chemokine (C-C motif) receptor 4 (CCR4), mRNA.	145					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						GCGGTGTTTTCCTTGAGGGCA	0.483000														121			66		0	0	0.003610	0	0
CYP2C19	1557	broad.mit.edu	37	10	96541593	96541593	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:96541593C>T	uc010qnz.2	+	4	658	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S	CYP2C19_uc009xus.1_Missense_Mutation_p.P85S|CYP2C19_uc010qny.2_Missense_Mutation_p.P198S	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	220					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CAATAATTTTCCCACTATCAT	0.274000														12			14		0	0	0.004990	0	0
SLC6A17	388662	broad.mit.edu	37	1	110735150	110735150	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:110735150T>C	uc009wfq.3	+	7	1590	c.1129T>C	c.(1129-1131)Tac>Cac	p.Y377H	SLC6A17_uc001dze.1_5'UTR	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	377					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		AATCCTAGGGTACCTTAACAC	0.542000														18			16		0	0	0.006122	0	0
DNAH9	1770	broad.mit.edu	37	17	11827196	11827196	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:11827196G>A	uc002gne.3	+	61	11883	c.11815G>A	c.(11815-11817)Gaa>Aaa	p.E3939K	DNAH9_uc010coo.3_Missense_Mutation_p.E3233K|DNAH9_uc002gnf.3_Missense_Mutation_p.E251K|DNAH9_uc010vvh.1_Missense_Mutation_p.E292K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3939	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCAAGGACAGGAAGTGGTGGC	0.473000														49			8		0	0	0.004482	0	0
USP17L2	377630	broad.mit.edu	37	8	11996035	11996035	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:11996035C>T	uc003wvc.1	-	0	235	c.235G>A	c.(235-237)Ggg>Agg	p.G79R	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	79					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						AGCCCAGCCCCCACCGCAGCA	0.582000														110			19		0	0	0.002780	0	0
SPAM1	6677	broad.mit.edu	37	7	123594569	123594569	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:123594569C>T	uc003vle.3	+	2	1384	c.945C>T	c.(943-945)ttC>ttT	p.F315F	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Silent_p.F315F|SPAM1_uc022aks.1_Silent_p.F315F|SPAM1_uc003vlf.4_Silent_p.F315F|SPAM1_uc010lku.3_Silent_p.F315F	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	315					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TTTTGAAATTCCTTTCTCAAG	0.343000														7			17		0	0	0.006122	0	0
PLCH1	23007	broad.mit.edu	37	3	155200813	155200813	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:155200813C>T	uc021xge.1	-	22	3303	c.3026G>A	c.(3025-3027)gGg>gAg	p.G1009E	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.G971E	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1009					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)			ACTTGCTTTCCCTTTTCTTCT	0.393000														73			27		0	0	0.003954	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807310	15807310	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:15807310C>T	uc002nbl.3	+	11	1504	c.1385C>T	c.(1384-1386)tCc>tTc	p.S462F		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					ATTCCTTTCTCCGCAGGGCCC	0.562000														76			38		0	0	0.006999	0	0
CSNK2A1	1457	broad.mit.edu	37	11	11374277	11374277	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:11374277G>C	uc001mjp.3	-	0	628	c.390C>G	c.(388-390)gaC>gaG	p.D130E	GALNTL4_uc001mjo.2_Intron	NM_177559	NP_808227	P68400	CSK21_HUMAN	Homo sapiens casein kinase 2, alpha 1 polypeptide (CSNK2A1), transcript variant 1, mRNA.	130	Protein kinase.				Wnt receptor signaling pathway|axon guidance	NuRD complex|Sin3 complex|cytosol|plasma membrane	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			GAATATCATAGTCTGTTAACG	0.423000														69			38		0	0	0.004878	0	0
C5orf42	65250	broad.mit.edu	37	5	37181013	37181013	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:37181013G>A	uc011cpa.1	-	26	5747	c.5516C>T	c.(5515-5517)cCa>cTa	p.P1839L	C5orf42_uc011coy.1_Missense_Mutation_p.P340L|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.P914L	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	1839										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AGTTCCACCTGGAGTTGCTAC	0.403000														28			11		0	0	0.001368	0	0
DNAH9	1770	broad.mit.edu	37	17	11671833	11671833	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:11671833C>T	uc002gne.3	+	36	7302	c.7234C>T	c.(7234-7236)Cct>Tct	p.P2412S	DNAH9_uc010coo.3_Missense_Mutation_p.P1706S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2412					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGTCAAGTTTCCTTCCCAAGG	0.498000														42			21		0	0	0.008871	0	0
GPR39	2863	broad.mit.edu	37	2	133402928	133402928	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:133402928G>A	uc002ttl.3	+	1	1580	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	LYPD1_uc002ttm.4_3'UTR|LYPD1_uc002ttn.3_3'UTR|LYPD1_uc002tto.3_3'UTR	NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	371						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CGCCAACCACGAGAAGCGCCT	0.667000														40			20		0	0	0.007413	0	0
PLCG2	5336	broad.mit.edu	37	16	81960742	81960742	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:81960742G>A	uc002fgt.3	+	22	2651	c.2473G>A	c.(2473-2475)Gag>Aag	p.E825K		NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	825	SH3.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.V824I(1)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CAACTACGTCGAGGACATCTC	0.522000														66			59		0	0	0.003610	0	0
MAP2	4133	broad.mit.edu	37	2	210560546	210560546	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:210560546G>A	uc002vde.1	+	6	3900	c.3652G>A	c.(3652-3654)Gca>Aca	p.A1218T	MAP2_uc002vdc.1_Missense_Mutation_p.A1218T|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.A1214T	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	1218					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TTCTGATGTTGCAGAGCCATT	0.458000														28			11		0	0	0.008291	0	0
APOL1	8542	broad.mit.edu	37	22	36662071	36662071	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:36662071G>A	uc003ape.3	+	6	1511	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K	APOL1_uc011amn.1_Missense_Mutation_p.E274K|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Missense_Mutation_p.E274K|APOL1_uc003apf.3_Missense_Mutation_p.E397K|APOL1_uc011amp.2_Missense_Mutation_p.E397K|APOL1_uc011amq.2_Missense_Mutation_p.E379K|APOL1_uc010gwx.3_Missense_Mutation_p.E274K	NM_145343	NP_003652	O14791	APOL1_HUMAN	Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA.	397					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding	p.E413K(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						GGCGGACCAAGAACTGTGACC	0.483000														44			20		0	0	0.010504	0	0
abParts	0	broad.mit.edu	37	14	106471545	106471545	+	RNA	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:106471545G>A	uc021ser.1	-	2492		c.43445C>T								Parts of antibodies, mostly variable regions.																		ACCTGGGAGTGGACACCTGTA	0.572000														7			23		0	0	0.002780	0	0
RAMP3	10268	broad.mit.edu	37	7	45222933	45222933	+	Silent	SNP	C	T	T	rs148542783		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:45222933C>T	uc003tnb.3	+	2	430	c.369C>T	c.(367-369)atC>atT	p.I123I		NM_005856	NP_005847	O60896	RAMP3_HUMAN	Homo sapiens receptor (G protein-coupled) activity modifying protein 3 (RAMP3), mRNA.	123					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	TCCCGCTGATCGTTATACCCG	0.617000														126			57		0	0	0.003610	0	0
ZNF812	729648	broad.mit.edu	37	19	9801391	9801391	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9801391G>A	uc021uop.1	-	5	1434	c.788C>T	c.(787-789)tCc>tTc	p.S263F	ZNF812_uc010xkx.2_Missense_Mutation_p.S159F	NM_001199814	NP_001186743	P0C7V5	ZN812_HUMAN	Homo sapiens zinc finger protein 812 (ZNF812), mRNA.	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AACATTAAAGGATGAGGAATT	0.348000														33			14		0	0	0.001855	0	0
ALMS1	7840	broad.mit.edu	37	2	73679862	73679862	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:73679862G>A	uc002sje.1	+	7	6316	c.6205G>A	c.(6205-6207)Ggt>Agt	p.G2069S	ALMS1_uc002sjf.1_Missense_Mutation_p.G2027S|ALMS1_uc002sjg.3_Missense_Mutation_p.G1457S|ALMS1_uc002sjh.1_Missense_Mutation_p.G1457S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2069	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCAAAGTAAAGGTATTCTAAA	0.363000														40			11		0	0	0.000978	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307553	46307553	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:46307553G>A	uc002pdm.3	-	2	1781	c.1610C>T	c.(1609-1611)tCc>tTc	p.S537F	RSPH6A_uc002pdl.3_Missense_Mutation_p.S273F	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	537	Glu-rich.					intracellular		p.S537C(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GTTGGCCATGGAGTCGACCAG	0.662000														42			29		0	0	0.009535	0	0
GPLD1	2822	broad.mit.edu	37	6	24475374	24475374	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:24475374T>C	uc003ned.1	-	4	527	c.416A>G	c.(415-417)cAa>cGa	p.Q139R	GPLD1_uc010jpr.1_Missense_Mutation_p.K11E|GPLD1_uc010jps.1_Missense_Mutation_p.Q139R|GPLD1_uc003nee.3_Missense_Mutation_p.Q139R	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	139						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						AAGGAATCCTTGTTCAAGGCC	0.463000														81			35		0	0	0.006230	0	0
C11orf82	220042	broad.mit.edu	37	11	82625826	82625826	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:82625826C>T	uc001ozt.3	+	2	290	c.46C>T	c.(46-48)Cag>Tag	p.Q16*	C11orf82_uc010rsr.2_5'UTR|C11orf82_uc010rss.2_5'UTR|C11orf82_uc009yvd.2_Nonsense_Mutation_p.Q16*	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	16					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ACTTGCTCTCCAGAATTCAAG	0.398000														30			6		0	0	0.001168	0	0
KCNK10	54207	broad.mit.edu	37	14	88658580	88658580	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:88658580C>T	uc001xwm.3	-	4	978	c.856G>A	c.(856-858)Gat>Aat	p.D286N	KCNK10_uc001xwn.3_Missense_Mutation_p.D286N|KCNK10_uc001xwo.3_Missense_Mutation_p.D281N	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	281					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GCCACAAAATCACCAAAGCCC	0.522000														49			30		0	0	0.002096	0	0
NRP2	8828	broad.mit.edu	37	2	206562290	206562290	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:206562290G>A	uc002vaw.3	+	1	887	c.96G>A	c.(94-96)ttG>ttA	p.L32L	NRP2_uc002vat.3_Silent_p.L32L|NRP2_uc002vau.3_Silent_p.L32L|NRP2_uc002vav.3_Silent_p.L32L|NRP2_uc002vax.3_Silent_p.L32L|NRP2_uc002vay.3_Silent_p.L32L|NRP2_uc010fud.3_Silent_p.L32L	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	32	CUB 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.R31H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GAGGTCGTTTGAATTCCAAAG	0.517000														231			113		0	0	0.003610	0	0
CD52	1043	broad.mit.edu	37	1	26644527	26644527	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:26644527C>T	uc001bmc.3	+	0	117	c.19C>T	c.(19-21)Ctc>Ttc	p.L7F	UBXN11_uc001bma.3_Intron|CD52_uc009vsg.1_Non-coding_Transcript	NM_001803	NP_001794	P31358	CD52_HUMAN	Homo sapiens CD52 molecule (CD52), mRNA.	7					elevation of cytosolic calcium ion concentration|respiratory burst	anchored to membrane|integral to plasma membrane|membrane fraction				large_intestine(1)	1		all_cancers(24;5.02e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.56e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0137)|READ - Rectum adenocarcinoma(331;0.0649)	Alemtuzumab(DB00087)	CTTCCTCTTCCTCCTACTCAC	0.527000														58			33		0	0	0.005524	0	0
MLL	4297	broad.mit.edu	37	11	118366464	118366464	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:118366464T>A	uc001pta.3	+	18	5427	c.5404T>A	c.(5404-5406)Tat>Aat	p.Y1802N	MLL_uc001ptb.3_Missense_Mutation_p.Y1805N	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	1802					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TGACCATAATTATGCTCAGTG	0.443000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									54			24		0	0	0.002780	0	0
YIPF4	84272	broad.mit.edu	37	2	32517334	32517334	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:32517334G>A	uc002rok.3	+	2	589	c.322G>A	c.(322-324)Gtg>Atg	p.V108M		NM_032312	NP_115688	Q9BSR8	YIPF4_HUMAN	Homo sapiens Yip1 domain family, member 4 (YIPF4), mRNA.	108						endoplasmic reticulum|integral to membrane	protein binding			kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					TAATAGACAAGTGGTGAGAGA	0.343000														35			10		0	0	0.000978	0	0
KCNH7	90134	broad.mit.edu	37	2	163302698	163302698	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:163302698A>T	uc002uch.2	-	6	1613	c.1384T>A	c.(1384-1386)Ttt>Att	p.F462I	KCNH7_uc002uci.3_Missense_Mutation_p.F455I	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	462					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TCTATGATAAACATAATATCC	0.363000														28			16		0	0	0.004007	0	0
ZHX1	11244	broad.mit.edu	37	8	124267897	124267897	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:124267897A>C	uc003yqe.3	-	2	900	c.290T>G	c.(289-291)gTg>gGg	p.V97G	C8orf76_uc003yqd.3_Intron|ZHX1_uc003yqf.3_Missense_Mutation_p.V97G|ZHX1_uc003yqg.3_Intron|ZHX1_uc010mdi.3_Missense_Mutation_p.V97G|ZHX1_uc022bak.1_Missense_Mutation_p.V97G	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	Homo sapiens zinc fingers and homeoboxes 1 (ZHX1), transcript variant 2, mRNA.	97					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGAATTTAGCACTACATTGGG	0.333000														65			22		0	0	0.001882	0	0
HIVEP1	3096	broad.mit.edu	37	6	12125828	12125828	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:12125828C>T	uc003nac.3	+	3	5979	c.5800C>T	c.(5800-5802)Cct>Tct	p.P1934S	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	1934					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCTGGCTTTCCCTAGCCTGAA	0.423000														63			26		0	0	0.009535	0	0
PDX1	3651	broad.mit.edu	37	13	28498687	28498687	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:28498687A>C	uc001urt.2	+	1	809	c.701A>C	c.(700-702)gAg>gCg	p.E234A		NM_000209	NP_000200	P52945	PDX1_HUMAN	Homo sapiens pancreatic and duodenal homeobox 1 (PDX1), mRNA.	234					detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		TCCGGCGAGGAGCTTCTGGCG	0.761000														58			17		0	0	0.006122	0	0
PAH	5053	broad.mit.edu	37	12	103234185	103234185	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:103234185G>A	uc001tjq.1	-	11	1781	c.1308C>T	c.(1306-1308)tcC>tcT	p.S436S		NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	436					L-phenylalanine catabolic process|catecholamine biosynthetic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TACTGTTAATGGAATCAGCCA	0.433000														25			17		0	0	0.006122	0	0
ACSL5	51703	broad.mit.edu	37	10	114164293	114164293	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:114164293G>A	uc001kzu.3	+	3	570	c.458G>A	c.(457-459)aGa>aAa	p.R153K	ACSL5_uc001kzs.3_Missense_Mutation_p.R97K|ACSL5_uc001kzt.3_Missense_Mutation_p.R97K|ACSL5_uc009xxz.3_Missense_Mutation_p.R97K	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	97					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TTGGGATATAGAAAACCAAAC	0.368000														11			8		0	0	0.006214	0	0
ATAD2	29028	broad.mit.edu	37	8	124408489	124408489	+	Silent	SNP	T	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:124408489T>G	uc003yqh.4	-	0	217	c.109A>C	c.(109-111)Agg>Cgg	p.R37R	ATAD2_uc011lii.2_5'UTR|ATAD2_uc003yqi.4_Intron|ATAD2_uc003yqj.3_Silent_p.R37R	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	37					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)			CGGAGCCGCCTCCGGCCGATG	0.706000														6			4		0	0	0.009096	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149212371	149212371	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:149212371G>A	uc003lrc.3	+	4	826	c.735G>A	c.(733-735)aaG>aaA	p.K245K	PPARGC1B_uc003lrb.2_Silent_p.K245K|PPARGC1B_uc003lrd.3_Silent_p.K206K|PPARGC1B_uc021yfr.1_Silent_p.K181K|PPARGC1B_uc003lre.1_Silent_p.K224K|PPARGC1B_uc003lrf.3_Silent_p.K224K	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	245					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCCCTGCCAAGGAGGACAAGG	0.677000														50			17		0	0	0.004990	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409001	56409001	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:56409001C>T	uc001njb.1	-	0	915	c.915G>A	c.(913-915)aaG>aaA	p.K305K	OR8U8_uc001nit.2_Intron	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AP, member 2 (OR5AP2), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K304Q(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						TCTTTAGGGCCTTTTTTACAT	0.343000														31			6		0	0	0.001984	0	0
CACNA1I	8911	broad.mit.edu	37	22	40045784	40045784	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:40045784G>A	uc003ayc.3	+	9	1846	c.1846G>A	c.(1846-1848)Gat>Aat	p.D616N	CACNA1I_uc003ayd.3_Missense_Mutation_p.D581N|CACNA1I_uc003aye.3_Missense_Mutation_p.D531N|CACNA1I_uc003ayf.3_Missense_Mutation_p.D496N	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	616					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ggagcaggcggaTGGGGCGGT	0.687000														7			3		0	0	0.009096	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77528607	77528607	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:77528607T>G	uc022bzh.1	-	0	637	c.637A>C	c.(637-639)Att>Ctt	p.I213L	CYSLTR1_uc004edb.3_Missense_Mutation_p.I213L|CYSLTR1_uc010nma.3_Missense_Mutation_p.I213L|CYSLTR1_uc010nmb.3_Missense_Mutation_p.I213L	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN	Homo sapiens cysteinyl leukotriene receptor 1 (CYSLTR1), mRNA.	213					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	AAGGTCAAAATGATCATTGTG	0.313000														7			8		0	0	0.004482	0	0
NPR1	4881	broad.mit.edu	37	1	153660603	153660603	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:153660603G>A	uc001fcs.4	+	14	2744	c.2323G>A	c.(2323-2325)Gag>Aag	p.E775K	NPR1_uc010pdz.2_Missense_Mutation_p.E521K|NPR1_uc010pea.2_Missense_Mutation_p.E253K	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	775	Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TCACCTGGAGGAGTTGGGGCT	0.632000														39			18		0	0	0.004990	0	0
PIK3R4	30849	broad.mit.edu	37	3	130452892	130452892	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:130452892G>A	uc003enj.3	-	3	1531	c.950C>T	c.(949-951)cCt>cTt	p.P317L		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 4 (PIK3R4), mRNA.	317	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AAATATTTCAGGAAAGGCATT	0.423000														68			34		0	0	0.002445	0	0
CD300LG	146894	broad.mit.edu	37	17	41939175	41939175	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:41939175G>A	uc002iem.3	+	6	964	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K		NM_145273	NP_660316	Q6UXG3	CLM9_HUMAN	Homo sapiens CD300 molecule-like family member g (CD300LG), transcript variant 1, mRNA.	299						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GACTGCGGAGGAAAAGGAAGC	0.602000														24			7		0	0	0.003080	0	0
SPTA1	6708	broad.mit.edu	37	1	158582658	158582658	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:158582658G>A	uc001fst.1	-	50	7282	c.7083C>T	c.(7081-7083)ttC>ttT	p.F2361F		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2361	EF-hand 3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAGGGCTTGGAAGGCATTCT	0.453000														40			10		0	0	0.006214	0	0
USP30	84749	broad.mit.edu	37	12	109494518	109494518	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:109494518G>A	uc010sxi.2	+	1	219	c.115G>A	c.(115-117)Ggt>Agt	p.G39S	USP30_uc001tnu.4_Missense_Mutation_p.G8S|LOC100131733_uc021rdn.1_5'Flank	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	Homo sapiens ubiquitin specific peptidase 30 (USP30), mRNA.	39					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						GGGAGTTATAGGTGGAATTGC	0.373000														94			69		0	0	0.003610	0	0
OR2L3	391192	broad.mit.edu	37	1	248224630	248224630	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:248224630C>T	uc001idx.1	+	0	647	c.647C>T	c.(646-648)tCc>tTc	p.S216F	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATTTCATGTTCCTATGGCCGG	0.502000														67			35		0	0	0.004878	0	0
UNC45A	55898	broad.mit.edu	37	15	91496169	91496169	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:91496169C>T	uc002bqg.3	+	17	2654	c.2314C>T	c.(2314-2316)Ctg>Ttg	p.L772L	UNC45A_uc002bqd.3_Silent_p.L757L|UNC45A_uc010uqr.2_Silent_p.L164L|UNC45A_uc021suj.1_Silent_p.L50L|RCCD1_uc002bqj.3_5'Flank|RCCD1_uc002bqk.3_5'Flank	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Homo sapiens unc-45 homolog A (C. elegans) (UNC45A), transcript variant 2, mRNA.	772					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GCAGAAGATCCTGAAGGAGAA	0.522000														247			284		0	0	0.003610	0	0
DCAF16	54876	broad.mit.edu	37	4	17805434	17805434	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:17805434G>A	uc003gpn.3	-	2	1392	c.331C>T	c.(331-333)Cct>Tct	p.P111S	DCAF16_uc021xmp.1_Missense_Mutation_p.P111S	NM_017741	NP_060211	Q9NXF7	DCA16_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 16 (DCAF16), mRNA.	111						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						GGCCATTCAGGAATTGGTTCC	0.498000														104			53		0	0	0.003610	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450719	105450719	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:105450719G>A	uc022cca.1	+	0	1294	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	MUM1L1_uc004emg.2_Missense_Mutation_p.E432K|MUM1L1_uc004emf.2_Missense_Mutation_p.E432K	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	432	PWWP.									autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CATGAATTCTGAAAAGAAGGG	0.343000														10			21		0	0	0.008871	0	0
NOX4	50507	broad.mit.edu	37	11	89088167	89088167	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:89088167C>T	uc001pct.3	-	12	1419	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	NOX4_uc009yvr.3_Missense_Mutation_p.E369K|NOX4_uc001pcu.3_Missense_Mutation_p.E320K|NOX4_uc001pcw.3_Missense_Mutation_p.E87K|NOX4_uc001pcx.3_Missense_Mutation_p.E87K|NOX4_uc001pcv.3_Missense_Mutation_p.E394K|NOX4_uc009yvo.3_Non-coding_Transcript|NOX4_uc010rtu.2_Missense_Mutation_p.E228K|NOX4_uc009yvp.3_Intron|NOX4_uc010rtv.2_Missense_Mutation_p.E370K|NOX4_uc009yvq.3_Missense_Mutation_p.E370K	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	394	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|heme binding|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GGCAGAATTTCGGAGTCTTGA	0.378000														21			5		0	0	0.001168	0	0
RP1L1	94137	broad.mit.edu	37	8	10465331	10465331	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:10465331C>T	uc003wtc.3	-	3	6506	c.6277G>A	c.(6277-6279)Gag>Aag	p.E2093K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	2093					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGCTGGGCCTCCCCTTCTGCC	0.627000														126			54		0	0	0.003610	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453137	+	Missense_Mutation	DNP	AC	CT	CT	rs121913377		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:140453136_140453137AC>CT	uc003vwc.4	-	14	1859_1860	c.1798_1799GT>AG	c.(1798-1800)gtg>AGg	p.V600R		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600M(43)|p.V600D(40)|p.V600L(37)|p.V600_K601>E(30)|p.V600A(24)|p.V600G(22)|p.T599_V600insT(9)|p.A598_T599insV(7)|p.T599I(5)|p.V600Q(4)|p.T599_V600>IAL(4)|p.T599_R603>I(4)|p.T599_V600insTT(4)|p.T599_V600insDFGLAT(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAGA	0.366000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)|V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					23			54		0	0	0.004672	0	0
MYH3	4621	broad.mit.edu	37	17	10532961	10532961	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:10532961G>A	uc002gmq.2	-	39	5837	c.5749C>T	c.(5749-5751)Caa>Taa	p.Q1917*		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1917					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						TTGTTGACTTGAGATTCTGCG	0.542000														29			38		0	0	0.008740	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21541322	21541322	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:21541322G>A	uc001vzp.3	+	1	151	c.122G>A	c.(121-123)cGg>cAg	p.R41Q	NDRG2_uc010tll.2_5'Flank|ARHGEF40_uc001vzn.1_Missense_Mutation_p.R41Q|ARHGEF40_uc001vzo.1_5'UTR|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_5'UTR	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA.	41					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						AGGACTTATCGGGAGGACGCA	0.607000														25			12		0	0	0.001855	0	0
MYL7	58498	broad.mit.edu	37	7	44179459	44179459	+	Splice_Site	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:44179459C>T	uc003tkg.3	-	5	311	c.299_splice	c.e5-1	p.G100_splice		NM_021223	NP_067046	Q01449	MLRA_HUMAN	Homo sapiens myosin, light chain 7, regulatory (MYL7), mRNA.	100					actin filament-based movement|smooth muscle contraction	A band|myosin complex	ATPase activity, coupled|calcium ion binding|microfilament motor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						GGGGTCTGTCCCTGGAAGGCC	0.612000														14			7		0	0	0.001984	0	0
SLC6A2	6530	broad.mit.edu	37	16	55706064	55706064	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:55706064C>T	uc021tio.1	+	2	672	c.621C>T	c.(619-621)ttC>ttT	p.F207F	SLC6A2_uc002eif.3_Silent_p.F207F|SLC6A2_uc002eig.3_Silent_p.F207F|SLC6A2_uc002eii.3_Silent_p.F102F	NM_001172504	NP_001165975	P23975	SC6A2_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA.	207					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGTACAAGTTCACGCCGGCAG	0.557000														22			15		0	0	0.004990	0	0
GLI1	2735	broad.mit.edu	37	12	57860059	57860059	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:57860059G>A	uc001snx.3	+	7	893	c.799G>A	c.(799-801)Gag>Aag	p.E267K	GLI1_uc021qzi.1_Missense_Mutation_p.E226K|GLI1_uc009zpq.3_Missense_Mutation_p.E139K	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	267					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GGAGCGGAAGGAGTTCGTGTG	0.597000														145			62		0	0	0.003610	0	0
TSKS	60385	broad.mit.edu	37	19	50249796	50249796	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:50249796C>T	uc002ppm.3	-	5	934	c.923G>A	c.(922-924)cGg>cAg	p.R308Q		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	308							protein binding	p.R308R(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CTCGCCAGCCCGAGGCCCCAT	0.716000														39			15		0	0	0.004007	0	0
IL37	27178	broad.mit.edu	37	2	113676317	113676317	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:113676317G>A	uc002tij.3	+	4	630	c.588G>A	c.(586-588)agG>agA	p.R196R	IL37_uc002tim.3_Silent_p.R135R|IL37_uc002tik.3_Silent_p.R175R|IL37_uc002til.3_Silent_p.R156R|IL37_uc002tin.3_Silent_p.R170R	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN	Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA.	196					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						TTGAGAACAGGAAACACATTG	0.493000														27			16		0	0	0.004007	0	0
ZNF773	374928	broad.mit.edu	37	19	58016719	58016719	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:58016719G>A	uc002qox.3	+	2	353	c.213G>A	c.(211-213)gaG>gaA	p.E71E	ZNF773_uc002qoy.3_Silent_p.E70E|ZNF773_uc021vcl.1_Silent_p.E71E	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN	Homo sapiens zinc finger protein 773 (ZNF773), mRNA.	71	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		AGTCATGGGAGGAGCCCTTCA	0.512000														59			23		0	0	0.002836	0	0
DCAF6	55827	broad.mit.edu	37	1	167944107	167944107	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:167944107T>G	uc001gew.3	+	3	645	c.292T>G	c.(292-294)Ttt>Gtt	p.F98V	DCAF6_uc001gex.3_Missense_Mutation_p.F98V|DCAF6_uc010plk.2_Missense_Mutation_p.F67V|DCAF6_uc001gev.3_Missense_Mutation_p.F98V|DCAF6_uc001gey.3_5'UTR	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 6 (DCAF6), transcript variant 2, mRNA.	98					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AGCAAACATATTTAGTGCAAA	0.338000														47			10		0	0	0.001368	0	0
IGSF8	93185	broad.mit.edu	37	1	160062338	160062338	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:160062338C>T	uc001fva.3	-	4	1505	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E	IGSF8_uc001fuz.3_Missense_Mutation_p.G487E|IGSF8_uc009wtf.3_Missense_Mutation_p.G487E	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	Homo sapiens immunoglobulin superfamily, member 8 (IGSF8), transcript variant 1, mRNA.	487	Ig-like C2-type 4.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCTGAGCTCTCCGTCCTCTGG	0.697000														9			9		0	0	0.004482	0	0
RPTN	126638	broad.mit.edu	37	1	152129433	152129433	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:152129433G>A	uc001ezs.1	-	2	207	c.142C>T	c.(142-144)Cca>Tca	p.P48S		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	48	EF-hand 1.|S-100-like (By similarity).					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GGGTCATTTGGTCTCTGTTAG	0.428000														34			19		0	0	0.010504	0	0
SLC13A3	64849	broad.mit.edu	37	20	45194871	45194871	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:45194871C>T	uc002xsf.2	-	10	1531	c.1491G>A	c.(1489-1491)gaG>gaA	p.E497E	SLC13A3_uc010ghn.2_Silent_p.E466E|SLC13A3_uc010zxx.2_Silent_p.E399E|SLC13A3_uc010zxw.2_Silent_p.E447E|SLC13A3_uc002xsg.2_Silent_p.E450E|SLC13A3_uc010gho.2_Silent_p.E415E|SLC13A3_uc002xse.2_5'Flank|SLC13A3_uc010ghm.2_Silent_p.E84E|SLC13A3_uc010zxv.2_Silent_p.E82E	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	497						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	p.E497G(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CCCTCACCAGCTCTGCCAGGA	0.607000														106			91		0	0	0.003610	0	0
TRANK1	9881	broad.mit.edu	37	3	36879994	36879994	+	Splice_Site	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:36879994C>T	uc003cgj.3	-	19	5501	c.5253_splice	c.e19-1	p.K1751_splice		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1751					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						AACTGCTTTTCCCTAGGGGAA	0.438000														39			12		0	0	0.001368	0	0
OR4K5	79317	broad.mit.edu	37	14	20389214	20389214	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:20389214C>T	uc010tkw.2	+	0	449	c.449C>T	c.(448-450)gCt>gTt	p.A150V		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCTCCTGGGCTGTGAGCTTG	0.443000														125			62		0	0	0.003610	0	0
IGSF9B	22997	broad.mit.edu	37	11	133801430	133801430	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:133801430T>A	uc001qgx.4	-	9	1517	c.1286A>T	c.(1285-1287)gAg>gTg	p.E429V	IGSF9B_uc001qgy.1_Missense_Mutation_p.E271V	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	429	Ig-like 5.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTGCCTGTACTCCCAGCCTGG	0.652000														39			11		0	0	0.001368	0	0
ATG2A	23130	broad.mit.edu	37	11	64677192	64677192	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:64677192C>A	uc001obx.3	-	13	2183	c.2068G>T	c.(2068-2070)Gtc>Ttc	p.V690F		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	690							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGGGTGGGGACTGGGGGACCA	0.667000														39			20		1.37522e-17	1.58174e-17	0.007413	1	0
MYLK	4638	broad.mit.edu	37	3	123456251	123456251	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:123456251G>A	uc003ego.3	-	7	1010	c.728C>T	c.(727-729)tCg>tTg	p.S243L	MYLK_uc011bjw.2_Missense_Mutation_p.S243L|MYLK_uc003egp.3_Missense_Mutation_p.S243L|MYLK_uc003egq.3_Missense_Mutation_p.S243L|MYLK_uc003egr.3_Missense_Mutation_p.S243L|MYLK_uc003egs.3_Missense_Mutation_p.S67L|MYLK_uc010hrs.1_Missense_Mutation_p.S243L	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	243	Ig-like C2-type 2.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGCTGACATCGAGGCCTTCCC	0.567000														71			28		0	0	0.007291	0	0
MIR205HG	642587	broad.mit.edu	37	1	209605619	209605619	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:209605619C>T	uc009xcn.3	+	3	617	c.234C>T	c.(232-234)acC>acT	p.T78T		NM_001104548	NP_001098018			Homo sapiens MIR205 host gene (non-protein coding) (MIR205HG), mRNA.																		ccgccaccaccgccgccgcca	0.582000														8			11		0	0	0.001368	0	0
ZFP112	7771	broad.mit.edu	37	19	44831861	44831861	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:44831861G>A	uc010xwy.2	-	4	2636	c.2518C>T	c.(2518-2520)Cat>Tat	p.H840Y	ZFP112_uc010ejj.3_Missense_Mutation_p.H823Y|ZFP112_uc002ozc.4_Missense_Mutation_p.H817Y|ZFP112_uc010xwz.2_Missense_Mutation_p.H822Y	NM_013380	NP_037512	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 112 homolog (mouse) (ZFP112), transcript variant 2, mRNA.	823					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						ACTCTGTGATGGGCTTGAAGA	0.473000														114			37		0	0	0.006230	0	0
NOL10	79954	broad.mit.edu	37	2	10712246	10712246	+	Missense_Mutation	SNP	G	A	A	rs142436125		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:10712246G>A	uc002raq.2	-	20	2143	c.2018C>T	c.(2017-2019)tCg>tTg	p.S673L	NOL10_uc010yje.1_Missense_Mutation_p.S647L|NOL10_uc010yjf.1_Missense_Mutation_p.S623L|NOL10_uc002rap.2_Missense_Mutation_p.S623L	NM_024894	NP_079170	Q9BSC4	NOL10_HUMAN	Homo sapiens nucleolar protein 10 (NOL10), mRNA.	673						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		GTGTCCGGCCGAACGACGGAG	0.483000														171			70		0	0	0.003610	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610552	47610552	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:47610552G>A	uc001cqv.1	+	8	1183	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K	CYP4A22_uc009vyo.3_Missense_Mutation_p.E378K|CYP4A22_uc009vyp.3_Missense_Mutation_p.E280K	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	378						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTGCATTAAGGAGGCACTGAG	0.582000														26			12		0	0	0.001368	0	0
CHST10	9486	broad.mit.edu	37	2	101010058	101010058	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:101010058G>A	uc002tam.3	-	6	1118	c.720C>T	c.(718-720)ttC>ttT	p.F240F		NM_004854	NP_004845	O43529	CHSTA_HUMAN	Homo sapiens carbohydrate sulfotransferase 10 (CHST10), mRNA.	240					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GGTAGCGCACGAAATCTTCAA	0.542000														138			57		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9076497	9076497	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9076497G>A	uc002mkp.3	-	2	11153	c.10949C>T	c.(10948-10950)tCa>tTa	p.S3650L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3651	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						CTTTACAGCTGAAGCATCAGA	0.463000														43			24		0	0	0.003330	0	0
DSP	1832	broad.mit.edu	37	6	7586062	7586062	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:7586062C>G	uc003mxp.1	+	23	8846	c.8567C>G	c.(8566-8568)tCt>tGt	p.S2856C	DSP_uc003mxq.1_Missense_Mutation_p.S2257C|DSP_uc021yle.1_Missense_Mutation_p.S2413C	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2856	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACAGGGAATTCTTCCTACTCT	0.542000														127			44		0	0	0.003610	0	0
ITLN1	55600	broad.mit.edu	37	1	160853271	160853271	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:160853271G>A	uc001fxc.3	-	2	220	c.104C>T	c.(103-105)cCa>cTa	p.P35L		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	35	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GGGCAGAGATGGAGACGAAGA	0.443000														41			19		0	0	0.001882	0	0
VWA3B	200403	broad.mit.edu	37	2	98853161	98853161	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:98853161G>A	uc002syo.3	+	18	2905	c.2641G>A	c.(2641-2643)Gac>Aac	p.D881N	VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Missense_Mutation_p.D400N|VWA3B_uc002sym.3_Missense_Mutation_p.D881N|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.D538N|VWA3B_uc002syp.1_Missense_Mutation_p.D273N|VWA3B_uc002syq.1_Missense_Mutation_p.D157N|VWA3B_uc002syr.1_Missense_Mutation_p.D198N|VWA3B_uc010fih.1_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	881										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCCCGTCCTGGACAAGCATGT	0.488000														146			58		0	0	0.003610	0	0
CDHR2	54825	broad.mit.edu	37	5	176003025	176003025	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:176003025G>A	uc021yie.1	+	11	1307	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	CDHR2_uc003mem.2_Missense_Mutation_p.D345N|CDHR2_uc003men.1_Missense_Mutation_p.D345N	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	345	Cadherin 3.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GAGAGTGATGGACGTCAATGA	0.582000														26			17		0	0	0.007413	0	0
RPL32	6161	broad.mit.edu	37	3	12881705	12881705	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:12881705T>C	uc003bxl.3	-	0	245	c.32A>G	c.(31-33)aAg>aGg	p.K11R	RPL32_uc003bxm.3_Missense_Mutation_p.K11R|RPL32_uc003bxn.3_Missense_Mutation_p.K11R	NM_001007074	NP_001007075	P62910	RL32_HUMAN	Homo sapiens ribosomal protein L32 (RPL32), transcript variant 3, mRNA.	11					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						TTTGACGATCTTGGGCTTCAC	0.537000														135			60		0	0	0.003610	0	0
USP29	57663	broad.mit.edu	37	19	57640998	57640998	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:57640998C>T	uc002qny.3	+	3	1311	c.955C>T	c.(955-957)Cca>Tca	p.P319S	USP29_uc021vci.1_Missense_Mutation_p.P319S	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	319					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCAAGGTGTCCCATGGGAATA	0.408000														65			31		0	0	0.002445	0	0
NBPF10	100132406	broad.mit.edu	37	1	144828544	144828544	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:144828544C>T	uc009wig.1	+	21	2777	c.2583C>T	c.(2581-2583)ctC>ctT	p.L861L	NBPF10_uc010oxo.1_Silent_p.L788L|NBPF10_uc010oxn.1_Silent_p.L761L|NBPF10_uc021oth.1_Silent_p.L523L|NBPF10_uc021otj.1_Silent_p.L890L|NBPF10_uc021oto.1_Silent_p.L678L|NBPF10_uc021otr.1_Silent_p.L190L|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Silent_p.L434L|NBPF10_uc010oyd.1_Silent_p.L190L|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	863										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTTCCAGGCTCAACGGCGTGC	0.453000														126			20		0	0	0.003330	0	0
GCN1L1	10985	broad.mit.edu	37	12	120580452	120580453	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:120580452_120580453GG>AA	uc001txo.3	-	43	5700_5701	c.5687_5688CC>TT	c.(5686-5688)acc>aTT	p.T1896I		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1896					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCACCAGCTGGGTGTCTGAGCG	0.624000														47			19		0	0	0.004672	0	0
ADSSL1	122622	broad.mit.edu	37	14	105207039	105207039	+	Missense_Mutation	SNP	C	T	T	rs144784529		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:105207039C>T	uc001ypd.3	+	5	652	c.578C>T	c.(577-579)tCc>tTc	p.S193F	ADSSL1_uc001ype.3_Missense_Mutation_p.S236F|ADSSL1_uc001ypf.3_Non-coding_Transcript	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	Homo sapiens adenylosuccinate synthase like 1 (ADSSL1), transcript variant 2, mRNA.	193					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	GATGAGTTTTCCTCCAGGTAC	0.597000														66			25		0	0	0.003330	0	0
GPR115	221393	broad.mit.edu	37	6	47684583	47684583	+	Splice_Site	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:47684583G>A	uc003oyz.1	+	8	2145	c.2145_splice	c.e8+1	p.K715_splice	GPR115_uc003oza.1_Splice_Site_p.K658_splice|GPR115_uc003ozb.1_Splice_Site_p.K658_splice	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	658					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TGGATCACAAGGTAATTTGAA	0.408000														38			22		0	0	0.002299	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12939610	12939610	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:12939610C>T	uc001aun.2	-	3	1263	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	398										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	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)		AGCAGGTTCTCCAGGGTGGCC	0.542000														215			93		0	0	0.003610	0	0
PIK3R5	23533	broad.mit.edu	37	17	8790920	8790920	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:8790920C>T	uc002glt.3	-	10	1764	c.1697G>A	c.(1696-1698)gGg>gAg	p.G566E	PIK3R5_uc010vuz.2_Missense_Mutation_p.G566E|PIK3R5_uc021tqc.1_Missense_Mutation_p.G180E|PIK3R5_uc010cob.2_Missense_Mutation_p.G180E|PIK3R5_uc010coa.2_Missense_Mutation_p.G180E|PIK3R5_uc002glu.4_Missense_Mutation_p.G180E	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	566					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						AGGGCTGGTCCCATGACTTCG	0.617000														8			12		0	0	0.001855	0	0
FOLH1	2346	broad.mit.edu	37	11	49179553	49179553	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:49179553C>T	uc001ngy.3	-	13	1744	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K	FOLH1_uc009yly.3_Missense_Mutation_p.E480K|FOLH1_uc009ylz.3_Missense_Mutation_p.E480K|FOLH1_uc001ngz.3_Missense_Mutation_p.E495K|FOLH1_uc009yma.3_Missense_Mutation_p.E187K	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	495	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GTCCAACTTTCATAAAGAGAT	0.348000														31			13		0	0	0.010504	0	0
KRT16	3868	broad.mit.edu	37	17	39767899	39767899	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:39767899G>A	uc002hxg.4	-	1	745	c.606C>T	c.(604-606)ttC>ttT	p.F202F	JUP_uc010wfs.2_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	202	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				ACTTGGTCCTGAAGTCATCGG	0.622000														17			6		0	0	0.001984	0	0
VPS18	57617	broad.mit.edu	37	15	41194915	41194915	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:41194915A>T	uc001zne.3	+	4	2637	c.2298A>T	c.(2296-2298)gaA>gaT	p.E766D		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.	766					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGGTGCAGGAAGAGGAAGATG	0.562000														31			6		0	0	0.001984	0	0
MYO1F	4542	broad.mit.edu	37	19	8620543	8620543	+	Splice_Site	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:8620543G>A	uc002mkg.3	-	2	279	c.141_splice	c.e2+1	p.F47_splice	MYO1F_uc010xkf.2_Splice_Site_p.F47_splice	NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	47	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCCAGGGTACGAAGATGTAGT	0.617000														63			26		0	0	0.002445	0	0
LRBA	987	broad.mit.edu	37	4	151749501	151749501	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:151749501G>A	uc010ipj.3	-	29	5246	c.5002C>T	c.(5002-5004)Ccg>Tcg	p.P1668S	LRBA_uc003ilt.4_Missense_Mutation_p.P327S|LRBA_uc003ilu.4_Missense_Mutation_p.P1668S	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	1668						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GAAACTGACGGTGTAGCCTTA	0.433000														48			28		0	0	0.008361	0	0
CPT1A	1374	broad.mit.edu	37	11	68548126	68548126	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:68548126G>A	uc001oog.4	-	11	1610	c.1440C>T	c.(1438-1440)atC>atT	p.I480I	CPT1A_uc001oof.4_Silent_p.I480I	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	480					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GGTGGGCCACGATCGGCGCAT	0.512000														36			18		0	0	0.008871	0	0
DGKG	1608	broad.mit.edu	37	3	185882732	185882732	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:185882732T>G	uc003fqa.3	-	22	2708	c.2171A>C	c.(2170-2172)aAg>aCg	p.K724T	DGKG_uc003fqb.3_Missense_Mutation_p.K685T|DGKG_uc003fqc.3_Missense_Mutation_p.K699T|DGKG_uc011brx.2_Missense_Mutation_p.K665T	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	724					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GCCTGCACTCTTCAGGCCGGT	0.587000														31			18		0	0	0.007413	0	0
PKD1L1	168507	broad.mit.edu	37	7	47969116	47969116	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:47969116C>T	uc003tny.2	-	6	779	c.745G>A	c.(745-747)Ggc>Agc	p.G249S		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	249					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGCGGAAGGCCGTGGGAGCTG	0.622000														31			8		0	0	0.003080	0	0
TRPM3	80036	broad.mit.edu	37	9	73477938	73477938	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:73477938G>A	uc004aid.3	-	2	592	c.348C>T	c.(346-348)tcC>tcT	p.S116S	TRPM3_uc004ahw.3_5'UTR|TRPM3_uc004ahx.3_5'UTR|TRPM3_uc004ahy.3_5'UTR|TRPM3_uc004ahz.3_5'UTR|TRPM3_uc004aia.3_5'UTR|TRPM3_uc004aib.3_5'UTR|TRPM3_uc004aic.3_Silent_p.S116S|TRPM3_uc010mor.3_Silent_p.S116S|TRPM3_uc004aie.3_5'UTR|TRPM3_uc004aif.3_5'UTR|TRPM3_uc004aig.3_5'UTR|TRPM3_uc004aii.3_Silent_p.S118S	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	116						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGTCATTTCGGGAGAGGCGAC	0.502000														46			36		0	0	0.004289	0	0
MYH7	4625	broad.mit.edu	37	14	23896993	23896993	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:23896993G>A	uc001wjx.3	-	15	1795	c.1689C>T	c.(1687-1689)ttC>ttT	p.F563F		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	563	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTGGCTTCTGGAAGTTGGCGG	0.542000														62			23		0	0	0.002299	0	0
ZNF480	147657	broad.mit.edu	37	19	52824896	52824896	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:52824896C>T	uc010ydl.2	+	4	463	c.393C>T	c.(391-393)tcC>tcT	p.S131S	ZNF480_uc002pyv.3_Silent_p.S54S|ZNF480_uc010ydm.2_Silent_p.S88S|ZNF480_uc010epn.3_5'UTR|AK097759_uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	Homo sapiens zinc finger protein 480 (ZNF480), mRNA.	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TTGGAGTATCCTTTCACTTAC	0.373000														46			15		0	0	0.004007	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140214073	140214074	+	Missense_Mutation	DNP	CC	TT	TT	rs141682483		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140214073_140214074CC>TT	uc003lhq.2	+	0	105_106	c.105_106CC>TT	c.(103-108)gtcccc>gtTTcc	p.P36S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.P36S	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	49					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTACTCGGTCCCCGAGGAGGC	0.624000														69			34		0	0	0.004672	0	0
PSG7	5676	broad.mit.edu	37	19	43430647	43430647	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:43430647C>T	uc002ovl.4	-	4	1030	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.E189K	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	311	Ig-like C2-type 2.				female pregnancy	extracellular region							Prostate(69;0.00682)				TCCCGTATTTCACATTGATAG	0.517000														127			65		0	0	0.003610	0	0
TMEM135	65084	broad.mit.edu	37	11	87029190	87029190	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:87029190C>T	uc001pch.3	+	12	1291	c.1089C>T	c.(1087-1089)ttC>ttT	p.F363F	TMEM135_uc010rtt.2_Silent_p.F224F|TMEM135_uc001pci.3_Silent_p.F341F	NM_022918	NP_075069	Q86UB9	TM135_HUMAN	Homo sapiens transmembrane protein 135 (TMEM135), transcript variant 1, mRNA.	363						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAATGTATTTCAAAGGCATTG	0.378000														53			12		0	0	0.004007	0	0
SEPSECS	51091	broad.mit.edu	37	4	25125674	25125674	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:25125674C>T	uc003grg.3	-	10	1598	c.1385G>A	c.(1384-1386)aGa>aAa	p.R462K	SEPSECS_uc003gri.3_Missense_Mutation_p.R461K|SEPSECS_uc003grh.3_Missense_Mutation_p.R383K	NM_016955	NP_058651	Q9HD40	SPCS_HUMAN	Homo sapiens Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase (SEPSECS), mRNA.	462					selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|tRNA binding|transferase activity, transferring selenium-containing groups			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)	TCGTTCTTTTCTTACTGCCTT	0.383000														49			13		0	0	0.002450	0	0
TFCP2L1	29842	broad.mit.edu	37	2	121989422	121989422	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:121989422G>A	uc002tmx.3	-	12	1414	c.1321C>T	c.(1321-1323)Cat>Tat	p.H441Y	TFCP2L1_uc010flr.3_Intron|TFCP2L1_uc010flq.3_Intron	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA.	441					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					ACCACCACATGGATGCCCGTG	0.637000														32			19		0	0	0.010504	0	0
GPR98	84059	broad.mit.edu	37	5	89938791	89938791	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:89938791T>C	uc003kju.3	+	12	2582	c.2486T>C	c.(2485-2487)cTa>cCa	p.L829P	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	829	Calx-beta 6.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.V828A(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACGGGAGTACTAGAATTTAAA	0.423000														81			34		0	0	0.004878	0	0
SLC35F4	341880	broad.mit.edu	37	14	58060704	58060704	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:58060704C>T	uc021rtp.1	-	1	291	c.242G>A	c.(241-243)gGa>gAa	p.G81E	SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_5'UTR	NM_001206920	NP_001193849			Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA.											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCTGAGGATCCTTGGTTTTG	0.468000														39			21		0	0	0.002780	0	0
ARFGAP2	84364	broad.mit.edu	37	11	47189487	47189487	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:47189487A>T	uc001ndt.3	-	11	1450	c.1178T>A	c.(1177-1179)aTc>aAc	p.I393N	ARFGAP2_uc010rha.2_Missense_Mutation_p.I124N|ARFGAP2_uc010rhb.2_Missense_Mutation_p.I365N|ARFGAP2_uc001ndu.3_Missense_Mutation_p.I257N|ARFGAP2_uc010rhc.2_Missense_Mutation_p.I124N	NM_032389	NP_115765	Q8N6H7	ARFG2_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 2 (ARFGAP2), transcript variant 1, mRNA.	393	Required for interaction with coatomer.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GATGCTTGAGATGGTCACTTC	0.453000														9			7		0	0	0.001984	0	0
SELE	6401	broad.mit.edu	37	1	169694893	169694893	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:169694893T>C	uc001ggm.4	-	12	1982	c.1825A>G	c.(1825-1827)Atc>Gtc	p.I609V	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	609					actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					ACTTAAAGGATGTAAGAAGGC	0.403000														32			19		0	0	0.010504	0	0
TNXB	7148	broad.mit.edu	37	6	32037562	32037562	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:32037562G>A	uc003nzl.2	-	14	5557	c.5355C>T	c.(5353-5355)acC>acT	p.T1785T		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1867	Fibronectin type-III 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGTCACGGTGGTCACCTGCA	0.602000														309			121		0	0	0.003610	0	0
TCTE1	202500	broad.mit.edu	37	6	44249942	44249942	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:44249942C>T	uc003oxi.2	-	3	1357	c.1201G>A	c.(1201-1203)Gag>Aag	p.E401K	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	401										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCAGACAGCTCATTGCCACCG	0.597000														62			22		0	0	0.002299	0	0
PYGL	5836	broad.mit.edu	37	14	51390768	51390768	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:51390768G>A	uc001wyu.3	-	4	706	c.579C>T	c.(577-579)tcC>tcT	p.S193S	PYGL_uc010tqq.2_Silent_p.S159S|PYGL_uc010anz.1_5'UTR|PYGL_uc001wyw.4_Silent_p.S193S	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	193					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	ATTCTGGGCGGGACTTCTCCC	0.433000														58			29		0	0	0.009535	0	0
KLHL1	57626	broad.mit.edu	37	13	70371006	70371006	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:70371006C>T	uc001vip.3	-	6	2297	c.1503G>A	c.(1501-1503)gtG>gtA	p.V501V	KLHL1_uc010thm.2_Silent_p.V440V	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	501					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CAATAACAGCCACACCAAACT	0.408000														96			17		0	0	0.004990	0	0
CTH	1491	broad.mit.edu	37	1	70881666	70881666	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:70881666C>T	uc001dfd.3	+	1	394	c.196C>T	c.(196-198)Ccc>Tcc	p.P66S	CTH_uc009wbl.2_Non-coding_Transcript|CTH_uc010oqq.2_Missense_Mutation_p.P66S|CTH_uc001dfe.3_Missense_Mutation_p.P66S	NM_001902	NP_001893	P32929	CGL_HUMAN	Homo sapiens cystathionase (cystathionine gamma-lyase) (CTH), transcript variant 1, mRNA.	66					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	L-cysteine desulfhydrase activity|cystathionine gamma-lyase activity|pyridoxal phosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TTCTGGAAATCCCACTAGGAA	0.358000														49			15		0	0	0.004990	0	0
MACF1	23499	broad.mit.edu	37	1	39763377	39763377	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:39763377C>T	uc021olt.1	+	19	2508	c.2456C>T	c.(2455-2457)aCc>aTc	p.T819I	MACF1_uc021ols.1_Missense_Mutation_p.T819I|MACF1_uc001cdc.2_Missense_Mutation_p.T819I|MACF1_uc001cda.1_Missense_Mutation_p.T727I|MACF1_uc009vvq.1_5'Flank|MACF1_uc001cdb.1_5'Flank	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	819					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding	p.T818A(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACCACAACACCAGCTTATCC	0.463000														54			29		0	0	0.007291	0	0
SUGP1	57794	broad.mit.edu	37	19	19416738	19416738	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:19416738G>A	uc002nmh.3	-	3	474	c.458C>T	c.(457-459)cCc>cTc	p.P153L	SUGP1_uc002nmg.3_5'Flank|SUGP1_uc002nmi.3_5'UTR|SUGP1_uc002nmj.3_5'UTR|SUGP1_uc010xqr.2_Non-coding_Transcript|SUGP1_uc010xqs.2_Non-coding_Transcript	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	Homo sapiens SURP and G patch domain containing 1 (SUGP1), mRNA.	153					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						GTGCGCCACGGGCAGCTGCTT	0.652000														42			16		0	0	0.004990	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454988	84454988	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:84454988C>T	uc001vlk.3	-	0	1541	c.655G>A	c.(655-657)Gat>Aat	p.D219N		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	219	LRRCT 1.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GAGAGCAGATCACAGGTGCAG	0.547000														34			25		0	0	0.003954	0	0
MUC16	94025	broad.mit.edu	37	19	9074177	9074177	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9074177A>T	uc002mkp.3	-	2	13473	c.13269T>A	c.(13267-13269)ttT>ttA	p.F4423L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4425	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						CTGATTGCATAAAATCTGGAG	0.493000														121			54		0	0	0.003610	0	0
TARSL2	123283	broad.mit.edu	37	15	102215839	102215839	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:102215839G>A	uc002bxm.3	-	12	1807	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	TARSL2_uc002bxl.3_Silent_p.F129F|TARSL2_uc010usi.2_Non-coding_Transcript	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.	584					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCTCTCCTAGGAAGTTTTCCG	0.423000														131			73		0	0	0.003610	0	0
HIST1H3G	8355	broad.mit.edu	37	6	26271574	26271575	+	Missense_Mutation	DNP	AC	CT	CT			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:26271574_26271575AC>CT	uc003nhi.3	-	0	38_39	c.38_39GT>AG	c.(37-39)ggt>gAG	p.G13E	BC079832_uc003nhj.3_5'Flank|HIST1H2BI_uc003nhk.3_5'Flank	NM_003534	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3g (HIST1H3G), mRNA.	13					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						GCGCTTTGCCACCGGTGGACTT	0.604000														38			13		0	0	0.004672	0	0
CXCR1	3577	broad.mit.edu	37	2	219029138	219029138	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:219029138G>A	uc021vwq.1	-	0	797	c.797C>T	c.(796-798)aCc>aTc	p.T266I	CXCR1_uc002vhc.3_Missense_Mutation_p.T266I|HV303425_uc021vwr.1_5'Flank	NM_000634	NP_000625	P25024	CXCR1_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.	266					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						CCTCATGAGGGTGTCTGCCAG	0.592000														68			28		0	0	0.005443	0	0
KIAA0564	23078	broad.mit.edu	37	13	42393413	42393413	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:42393413A>T	uc001uyj.3	-	14	1880	c.1810T>A	c.(1810-1812)Ttt>Att	p.F604I	KIAA0564_uc001uyk.3_Missense_Mutation_p.F604I	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	604						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TAATGGAAAAAGAACATGGTT	0.403000														35			11		0	0	0.000978	0	0
ATP1A2	477	broad.mit.edu	37	1	160098476	160098476	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:160098476G>A	uc001fvc.3	+	8	1184	c.1052G>A	c.(1051-1053)cGg>cAg	p.R351Q	ATP1A2_uc001fvb.2_Missense_Mutation_p.R351Q|ATP1A2_uc010piz.1_Missense_Mutation_p.R196Q|ATP1A2_uc001fvd.3_Missense_Mutation_p.R87Q|ATP1A2_uc009wtg.1_Missense_Mutation_p.R39Q	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	351					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.R351Q(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CGCATGGCACGGAAGAACTGC	0.577000														52			9		0	0	0.000978	0	0
ADAM28	10863	broad.mit.edu	37	8	24193082	24193082	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:24193082C>T	uc003xdy.3	+	13	1578	c.1495C>T	c.(1495-1497)Cac>Tac	p.H499Y	ADAM28_uc003xdx.3_Missense_Mutation_p.H499Y|ADAM28_uc011kzz.2_Missense_Mutation_p.H266Y|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.H186Y	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	499	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.H499H(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CCCTTGCCATCACGGGAAGGG	0.527000														18			10		0	0	0.008291	0	0
TRPC7	57113	broad.mit.edu	37	5	135610433	135610433	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:135610433G>A	uc003lbn.2	-	3	1278	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F	TRPC7_uc010jef.2_Intron|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Intron|TRPC7_uc010jeh.2_Silent_p.F291F|TRPC7_uc010jei.2_Intron	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	352					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGACAGCCAGGAATTTCACAG	0.468000														22			13		0	0	0.001855	0	0
KIAA1109	84162	broad.mit.edu	37	4	123237932	123237932	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:123237932G>A	uc003ieh.3	+	59	10630	c.10585G>A	c.(10585-10587)Gga>Aga	p.G3529R	KIAA1109_uc003iel.1_Missense_Mutation_p.G1464R	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	3529					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TAGCCAGCCGGGAGAACTTAG	0.408000														56			10		0	0	0.006214	0	0
TLL1	7092	broad.mit.edu	37	4	167012404	167012404	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:167012404C>T	uc003irh.2	+	18	3214	c.2567C>T	c.(2566-2568)cCc>cTc	p.P856L	TLL1_uc011cjn.2_Missense_Mutation_p.P879L|TLL1_uc011cjo.2_Missense_Mutation_p.P680L	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	856	CUB 4.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATACCAGATCCCCTTGTGGCT	0.403000														30			10		0	0	0.008291	0	0
DNAH5	1767	broad.mit.edu	37	5	13923469	13923469	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:13923469C>T	uc003jfd.2	-	3	400	c.358G>A	c.(358-360)Gat>Aat	p.D120N	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	120	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D120N(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAGCCACATCGTTTCCCTCG	0.458000									Kartagener syndrome					111			44		0	0	0.007835	0	0
ZNF608	57507	broad.mit.edu	37	5	123982551	123982551	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:123982551T>C	uc003ktq.1	-	3	3709	c.3526A>G	c.(3526-3528)Aaa>Gaa	p.K1176E	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.K1176E|ZNF608_uc003ktt.1_Missense_Mutation_p.K1176E|ZNF608_uc003ktp.1_5'Flank	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	1176						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TCCTCAGTTTTATTAGGCACT	0.458000														110			48		0	0	0.003610	0	0
SIRPB1	10326	broad.mit.edu	37	20	1559045	1559046	+	Missense_Mutation	DNP	CC	TT	TT	rs145977289	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:1559045_1559046CC>TT	uc010gai.3	-	1	470_471	c.371_372GG>AA	c.(370-372)cgg>cAA	p.R124Q	SIRPB1_uc002wfk.4_Missense_Mutation_p.R124Q	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	124	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGCTCCCTTTCCGGAACTTCAC	0.545000														120			66		0	0	0.004672	0	0
PKD1	5310	broad.mit.edu	37	16	2140185	2140185	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:2140185T>C	uc002cos.1	-	45	12664	c.12455A>G	c.(12454-12456)aAa>aGa	p.K4152R	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.K4151R	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	4152					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AAAGCGGACTTTGTGGCGGAA	0.701000														35			40		0	0	0.003214	0	0
KCTD16	57528	broad.mit.edu	37	5	143586873	143586873	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:143586873C>T	uc003lnm.1	+	2	1225	c.596C>T	c.(595-597)tCc>tTc	p.S199F	KCTD16_uc003lnn.1_Missense_Mutation_p.S199F	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	199						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GGAAGGATTTCCTTGGCAAAA	0.468000														35			24		0	0	0.002299	0	0
FNDC9	408263	broad.mit.edu	37	5	156770210	156770210	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:156770210G>A	uc003lwu.2	-	1	523	c.335C>T	c.(334-336)tCc>tTc	p.S112F	CYFIP2_uc021ygm.1_Intron|CYFIP2_uc011ddn.2_Intron|CYFIP2_uc011ddo.2_Intron|CYFIP2_uc021ygn.1_Intron|CYFIP2_uc021ygo.1_Intron|CYFIP2_uc003lwt.3_Intron|CYFIP2_uc011ddp.2_Intron|FNDC9_uc021ygp.1_Missense_Mutation_p.S112F	NM_001001343	NP_001001343	Q8TBE3	FNDC9_HUMAN	Homo sapiens fibronectin type III domain containing 9 (FNDC9), mRNA.	112						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CACCCAAAGGGAGATCTGGGG	0.587000											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		60			19		0	0	0.007413	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335105	42335105	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:42335105G>A	uc002igf.4	-	11	1502	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F	SLC4A1_uc021tyc.1_Intron	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	451	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCAGCAGGGCGAAGAGAATGC	0.592000														29			7		0	0	0.001984	0	0
THEMIS	387357	broad.mit.edu	37	6	128134804	128134804	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:128134804G>A	uc011ebt.2	-	3	1131	c.982C>T	c.(982-984)Cct>Tct	p.P328S	THEMIS_uc010kfa.3_Missense_Mutation_p.P231S|THEMIS_uc021zfa.1_Missense_Mutation_p.P328S|THEMIS_uc010kfb.3_Missense_Mutation_p.P293S	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	328	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TGTCTTTTAGGAAAATTGCTT	0.458000														68			27		0	0	0.005443	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48143184	48143184	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:48143184G>A	uc001rpz.4	-	9	1580	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	RAPGEF3_uc010sln.2_5'Flank|RAPGEF3_uc001rpy.3_5'Flank|RAPGEF3_uc009zkp.3_Missense_Mutation_p.R302C|RAPGEF3_uc009zkq.3_Missense_Mutation_p.R302C|RAPGEF3_uc001rqa.3_5'Flank|RAPGEF3_uc009zkr.2_Non-coding_Transcript|RAPGEF3_uc009zks.2_Missense_Mutation_p.R356C|RAPGEF3_uc001rqb.3_Missense_Mutation_p.R344C	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	302					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		TTGATGATACGGTTGAAGTCC	0.582000														52			20		0	0	0.002299	0	0
KIAA0355	9710	broad.mit.edu	37	19	34838893	34838893	+	Missense_Mutation	SNP	C	T	T	rs138673599		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:34838893C>T	uc002nvd.4	+	10	3492	c.2633C>T	c.(2632-2634)cCg>cTg	p.P878L		NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	878										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GGCAACTGGCCGCCTATGGAT	0.637000														29			16		0	0	0.004007	0	0
MMP10	4319	broad.mit.edu	37	11	102650443	102650443	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:102650443C>A	uc001phg.2	-	1	176	c.139G>T	c.(139-141)Gat>Tat	p.D47Y		NM_002425	NP_002416	P09238	MMP10_HUMAN	Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.	47					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TGTTTCACATCCTTTTCGAGG	0.353000														38			11		2.27111e-07	2.59531e-07	0.001368	1	0
PNPLA1	285848	broad.mit.edu	37	6	36274124	36274124	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:36274124G>A	uc010jwf.2	+	6	1440	c.1440G>A	c.(1438-1440)gtG>gtA	p.V480V	PNPLA1_uc010jwe.1_Silent_p.V394V|PNPLA1_uc003olw.1_Silent_p.V385V	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	480					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						TGGTTCATGTGAAGGAAACCG	0.493000														78			33		0	0	0.004878	0	0
METTL16	79066	broad.mit.edu	37	17	2323266	2323266	+	Nonstop_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:2323266A>T	uc002fut.3	-	9	1835	c.1687T>A	c.(1687-1689)Tag>Aag	p.*563K	METTL16_uc010cka.3_Non-coding_Transcript|METTL16_uc002fuu.4_Non-coding_Transcript|METTL16_uc002fuv.3_Intron|METTL16_uc010vqx.1_Non-coding_Transcript|METTL16_uc010vqy.1_Nonstop_Mutation_p.*345K	NM_024086	NP_076991	Q86W50	MET16_HUMAN	Homo sapiens methyltransferase like 16 (METTL16), mRNA.	0							methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						GGAGGTTTCTAGTTAACTGCA	0.493000														32			17		0	0	0.007413	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460137	107460137	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:107460137C>T	uc002tdq.3	-	1	416	c.297G>A	c.(295-297)tgG>tgA	p.W99*	ST6GAL2_uc002tdr.3_Nonsense_Mutation_p.W99*|ST6GAL2_uc002tds.3_Nonsense_Mutation_p.W99*	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	99					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						GGGACTGGGCCCATTTCTGCA	0.587000														50			24		0	0	0.003330	0	0
FSCB	84075	broad.mit.edu	37	14	44975396	44975396	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:44975396G>A	uc001wvn.3	-	0	1104	c.795C>T	c.(793-795)ttC>ttT	p.F265F		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	265						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTTTAGCTGGGAATTTTTCTG	0.453000														52			17		0	0	0.010504	0	0
TXNDC2	84203	broad.mit.edu	37	18	9886722	9886722	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:9886722C>T	uc002koi.4	+	1	695	c.246C>T	c.(244-246)gcC>gcT	p.A82A	TXNDC2_uc002koh.4_Silent_p.A15A|TXNDC2_uc021ugx.1_Silent_p.A15A	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	82					cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AGTCTGATGCCTCACAGGAGG	0.567000														31			17		0	0	0.004007	0	0
ROCK1P1	727758	broad.mit.edu	37	18	120727	120727	+	RNA	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:120727G>A	uc002kke.3	+	4		c.965G>A								Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 (ROCK1P1), non-coding RNA.																		GTGCCTTGTGGAATCGTGTGG	0.423000														23			5		0	0	0.001168	0	0
PAK7	57144	broad.mit.edu	37	20	9546683	9546683	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:9546683C>T	uc002wnl.2	-	5	1884	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	PAK7_uc002wnk.2_Missense_Mutation_p.E447K|PAK7_uc002wnj.2_Missense_Mutation_p.E447K|PAK7_uc010gby.1_Missense_Mutation_p.E447K	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	447	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GCCAAGTATTCCCTGGGGTCT	0.582000														70			29		0	0	0.007291	0	0
OR5B3	441608	broad.mit.edu	37	11	58170239	58170239	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:58170239G>A	uc010rkf.2	-	0	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAATGTGTAGGATATCAAGAT	0.403000														30			12		0	0	0.001368	0	0
TUBA4A	7277	broad.mit.edu	37	2	220115710	220115711	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:220115710_220115711GG>AA	uc002vkt.1	-	3	768_769	c.710_711CC>TT	c.(709-711)tcc>tTT	p.S237F	TUBA4A_uc010zkz.1_Missense_Mutation_p.S222F|TUBA4B_uc002vku.3_5'Flank|TUBA4B_uc002vkv.1_5'Flank	NM_006000	NP_005991	P68366	TBA4A_HUMAN	Homo sapiens tubulin, alpha 4a (TUBA4A), mRNA.	237					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGCTGTGATGGAGGAGACAAT	0.564000														43			20		0	0	0.004672	0	0
MMP26	56547	broad.mit.edu	37	11	5013468	5013468	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:5013468C>T	uc001lzv.3	+	5	800	c.782C>T	c.(781-783)cCt>cTt	p.P261L		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	261					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		TCTGACATACCTTAATGTTAG	0.403000														14			5		0	0	0.001168	0	0
CAPN11	11131	broad.mit.edu	37	6	44144036	44144037	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:44144036_44144037CC>TT	uc003owt.1	+	8	1000_1001	c.962_963CC>TT	c.(961-963)ccc>cTT	p.P321L	CAPN11_uc011dvn.2_5'Flank	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	321	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTCCGGAATCCCTGGGGCCGGA	0.594000														59			19		0	0	0.004672	0	0
C1orf116	79098	broad.mit.edu	37	1	207195889	207195889	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:207195889C>T	uc001hfd.2	-	3	1479	c.1220G>A	c.(1219-1221)gGg>gAg	p.G407E	C1orf116_uc009xcb.1_Missense_Mutation_p.G161E|C1orf116_uc021pii.1_Missense_Mutation_p.G161E	NM_023938	NP_001077393	Q9BW04	SARG_HUMAN	Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA.	407	Ala-rich.					cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					cagagccttcccagcagcagg	0.607000														23			21		0	0	0.008871	0	0
SPON1	10418	broad.mit.edu	37	11	14157038	14157038	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:14157038G>A	uc001mle.3	+	6	1014	c.746G>A	c.(745-747)gGa>gAa	p.G249E		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	250	Spondin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GAATATGGAGGATATGCCAGC	0.478000														73			41		0	0	0.007835	0	0
TNR	7143	broad.mit.edu	37	1	175306816	175306816	+	Splice_Site	SNP	C	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:175306816C>G	uc001gkp.1	-	17	3464	c.3383_splice	c.e17-1	p.G1128_splice	TNR_uc009wwu.1_Splice_Site_p.G1128_splice	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	1128					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACCCGGCCTCCTGCAAGGAAA	0.502000														18			6		0	0	0.001168	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35161217	35161217	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:35161217G>A	uc003teq.1	-	13	1597	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		TCACTCAGGCGAATCTGGGAG	0.323000														44			29		0	0	0.008361	0	0
LOC100101266	100101266	broad.mit.edu	37	19	24345971	24345972	+	RNA	DNP	GG	AA	AA			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:24345971_24345972GG>AA	uc010edb.1	-	0		c.278_279CC>TT								Homo sapiens hepatitis A virus cellular receptor 1 pseudogene (LOC100101266), non-coding RNA.																		TATAGTCAAAGGGACATCCCTT	0.441000														285			125		0	0	0.004672	0	0
LUZP2	338645	broad.mit.edu	37	11	24750779	24750779	+	Missense_Mutation	SNP	C	T	T	rs150458536		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:24750779C>T	uc001mqs.3	+	1	401	c.127C>T	c.(127-129)Cgt>Tgt	p.R43C	LUZP2_uc009yif.3_5'UTR|LUZP2_uc009yig.3_Missense_Mutation_p.R43C	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	43						extracellular region		p.R43C(4)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CACCATTCTTCGTCAGCTGAC	0.433000														48			30		0	0	0.008361	0	0
ZNF782	158431	broad.mit.edu	37	9	99581465	99581465	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:99581465G>A	uc004awp.1	-	5	1121	c.840C>T	c.(838-840)ttC>ttT	p.F280F	ZNF782_uc011lup.1_Silent_p.F148F	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	Homo sapiens zinc finger protein 782 (ZNF782), mRNA.	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TGATTCTACAGAAACAATTTC	0.358000														33			24		0	0	0.003954	0	0
OTOP3	347741	broad.mit.edu	37	17	72943385	72943385	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:72943385G>A	uc010wrr.2	+	5	1435	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K	OTOP3_uc010wrq.2_Missense_Mutation_p.E461K	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	479						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CCCACTCTGGGAGACAGTTCC	0.667000														11			11		0	0	0.000978	0	0
TNFAIP8L2	79626	broad.mit.edu	37	1	151131232	151131232	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:151131232A>C	uc021oyl.1	+	0	59	c.59A>C	c.(58-60)aAg>aCg	p.K20T	TNFAIP8L2_uc001ewx.2_Missense_Mutation_p.K20T|SCNM1_uc021oyk.1_Intron	NM_024575	NP_078851	Q6P589	TP8L2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 2 (TNFAIP8L2), mRNA.	20					innate immune response					lung(1)|skin(2)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTACTGAGTAAGATGGCGGGT	0.532000														31			14		0	0	0.003163	0	0
CREM	1390	broad.mit.edu	37	10	35437404	35437404	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:35437404C>T	uc001iyb.3	+	2	318	c.153C>T	c.(151-153)atC>atT	p.I51I	CREM_uc001ixx.3_Silent_p.I35I|CREM_uc001ixy.3_Intron|CREM_uc001ixz.3_Intron|CREM_uc001iya.3_Silent_p.I51I|CREM_uc001iyc.3_Silent_p.I35I|CREM_uc001iye.3_Silent_p.I51I|CREM_uc001iyd.3_Silent_p.I51I	NM_181571	NP_853549	Q03060	CREM_HUMAN	Homo sapiens cAMP responsive element modulator (CREM), transcript variant 1, mRNA.	51					cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						AAAATTCAATCCCTGCTTTAG	0.428000														41			18		0	0	0.007413	0	0
KBTBD8	84541	broad.mit.edu	37	3	67054070	67054070	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:67054070G>A	uc003dmy.3	+	2	732	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	KBTBD8_uc011bfv.2_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	227	BACK.									breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		TGAACAGAATGAAAGAGAAGT	0.378000														34			18		0	0	0.004990	0	0
YLPM1	56252	broad.mit.edu	37	14	75265512	75265512	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:75265512C>T	uc001xqj.4	+	4	3636	c.3512C>T	c.(3511-3513)cCa>cTa	p.P1171L	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	976	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCATTCAGACCAGAACCAGGA	0.542000														43			13		0	0	0.002450	0	0
ZNF529	57711	broad.mit.edu	37	19	37038114	37038114	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:37038114G>A	uc002oeh.4	-	4	1548	c.1346C>T	c.(1345-1347)cCt>cTt	p.P449L	ZNF529_uc010xth.2_Missense_Mutation_p.P449L|ZNF529_uc010xti.2_Missense_Mutation_p.P431L|ZNF529_uc002oeg.4_Missense_Mutation_p.P344L	NM_020951	NP_001139122	Q6P280	ZN529_HUMAN	Homo sapiens zinc finger protein 529 (ZNF529), transcript variant 2, mRNA.	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					ACATTCATAAGGTTTTTGACC	0.358000														45			30		0	0	0.002445	0	0
GPR98	84059	broad.mit.edu	37	5	90101266	90101267	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:90101266_90101267CC>TT	uc003kju.3	+	71	14923_14924	c.14827_14828CC>TT	c.(14827-14829)cca>TTa	p.P4943L	GPR98_uc003kjt.3_Missense_Mutation_p.P2649L|GPR98_uc003kjw.3_Missense_Mutation_p.P604L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4943					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAACATGACCCCAACACTGGGT	0.446000														53			14		0	0	0.004672	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323726	79323726	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:79323726C>T	uc010mpk.3	-	7	3588	c.3464G>A	c.(3463-3465)gGa>gAa	p.G1155E	PRUNE2_uc022bih.1_Missense_Mutation_p.G977E	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1155					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGCCATGTATCCTTCTGTTTG	0.517000														50			37		0	0	0.003755	0	0
CCDC129	223075	broad.mit.edu	37	7	31617952	31617952	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:31617952G>A	uc011kae.2	+	7	1164	c.1152G>A	c.(1150-1152)aaG>aaA	p.K384K	CCDC129_uc011kad.1_Silent_p.K368K|CCDC129_uc003tcj.1_Silent_p.K358K|CCDC129_uc003tci.1_Intron|CCDC129_uc003tck.1_Silent_p.K266K	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	358										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GGTCAGTCAAGGGCAGAACTC	0.498000														44			11		0	0	0.000978	0	0
NBAS	51594	broad.mit.edu	37	2	15319127	15319127	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:15319127G>A	uc002rcc.1	-	50	6851	c.6825C>T	c.(6823-6825)atC>atT	p.I2275I	NBAS_uc002rcb.1_Silent_p.I115I|NBAS_uc010exl.1_Silent_p.I1347I|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	2275										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TGACTGCCGTGATTTGCTCCA	0.418000														31			15		0	0	0.003163	0	0
MYO5B	4645	broad.mit.edu	37	18	47511087	47511087	+	Splice_Site	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:47511087C>T	uc002leb.2	-	8	1234	c.946_splice	c.e8+1	p.G316_splice	MYO5B_uc021ukb.1_Splice_Site_p.G315_splice	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	316	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AAGCTCCTTACCGAGGAGTGT	0.552000														41			9		0	0	0.008291	0	0
FAT3	120114	broad.mit.edu	37	11	92086953	92086953	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:92086953G>A	uc001pdj.4	+	0	1692	c.1675G>A	c.(1675-1677)Gaa>Aaa	p.E559K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	559	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATACCGCCATGAAAGTGAGGT	0.423000										TCGA Ovarian(4;0.039)				353			166		0	0	0.003610	0	0
RGNEF	64283	broad.mit.edu	37	5	73163826	73163826	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:73163826C>A	uc010izf.3	+	18	2454	c.2278C>A	c.(2278-2280)Cca>Aca	p.P760T	RGNEF_uc011csq.2_Missense_Mutation_p.P760T|RGNEF_uc021yam.1_Missense_Mutation_p.P760T|RGNEF_uc011csr.2_Missense_Mutation_p.P447T	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	760					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		CAGAAGTGTTCCAGGCACCAC	0.542000														20			8		0.00621372	0.00705784	0.006214	1	0
CD84	8832	broad.mit.edu	37	1	160519728	160519728	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:160519728G>A	uc001fwh.4	-	6	1030	c.951C>T	c.(949-951)tcC>tcT	p.S317S	CD84_uc001fwf.4_Silent_p.S300S|CD84_uc009wtn.3_Nonsense_Mutation_p.R268*|CD84_uc001fwi.4_Silent_p.S186S|CD84_uc001fwg.4_Silent_p.S311S	NM_001184879	NP_001171808	Q9UIB8	SLAF5_HUMAN	Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA.	317					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	p.S300S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ACTGCACTTCGGAATAAACTG	0.512000														48			8		0	0	0.008291	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100001349	100001349	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:100001349C>T	uc003uut.3	-	14	1626	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K	ZCWPW1_uc011kjq.2_Missense_Mutation_p.E340K|ZCWPW1_uc003uur.3_Missense_Mutation_p.E340K|ZCWPW1_uc003uus.3_Missense_Mutation_p.E340K|ZCWPW1_uc011kjr.2_Missense_Mutation_p.E460K|ZCWPW1_uc003uuu.1_Missense_Mutation_p.E461K|ZCWPW1_uc011kjp.2_Non-coding_Transcript	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	460							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					tccaactcttcctctttctcc	0.408000														35			7		0	0	0.001984	0	0
VHLL	391104	broad.mit.edu	37	1	156268622	156268622	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:156268622G>A	uc001fok.3	-	0	807	c.359C>T	c.(358-360)cCa>cTa	p.P120L		NM_001004319	NP_001004319	Q6RSH7	VHLL_HUMAN	Homo sapiens von Hippel-Lindau tumor suppressor-like (VHLL), mRNA.	120	Beta-domain.				protein ubiquitination	nucleus				endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					ATTGGAAGATGGCACAAACAA	0.478000														74			32		0	0	0.002836	0	0
TRPS1	7227	broad.mit.edu	37	8	116599255	116599255	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:116599255G>A	uc003yny.3	-	4	3251	c.2673C>T	c.(2671-2673)tcC>tcT	p.S891S	TRPS1_uc011lhy.2_Silent_p.S882S|TRPS1_uc003ynz.3_Silent_p.S878S|TRPS1_uc010mcy.3_Silent_p.S878S	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	878					NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATTCATCCTTGGACTTGTTTT	0.502000									Langer-Giedion syndrome					51			22		0	0	0.002780	0	0
METTL19	152992	broad.mit.edu	37	4	8469678	8469678	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:8469678C>T	uc003glg.2	+	8	1550	c.1532C>T	c.(1531-1533)tCc>tTc	p.S511F	METTL19_uc003glf.1_Missense_Mutation_p.S270F|METTL19_uc003glh.1_Missense_Mutation_p.S119F	NM_152544	NP_689757	Q8IYL2	TRM44_HUMAN	Homo sapiens methyltransferase like 19 (METTL19), transcript variant 2, mRNA.	511					tRNA processing	cytoplasm	methyltransferase activity|nucleic acid binding|zinc ion binding			kidney(1)|lung(6)|ovary(3)|prostate(1)	11						TACCCTTCCTCCAGAGAAGCT	0.507000														30			28		0	0	0.002445	0	0
TIAM1	7074	broad.mit.edu	37	21	32519304	32519304	+	Silent	SNP	C	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:32519304C>A	uc002yow.1	-	20	3856	c.3384G>T	c.(3382-3384)ctG>ctT	p.L1128L	TIAM1_uc011adk.1_Silent_p.L1128L|TIAM1_uc011adl.1_Silent_p.L1068L	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	1128	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATGATCCCCCCAGAGAGAACA	0.502000														35			12		0.00010058	0.00011459	0.001368	1	0
HOXD10	3236	broad.mit.edu	37	2	176983951	176983951	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:176983951T>C	uc002ukj.3	+	1	1085	c.1015T>C	c.(1015-1017)Ttt>Ctt	p.F339L		NM_002148	NP_002139	P28358	HXD10_HUMAN	Homo sapiens homeobox D10 (HOXD10), mRNA.	339						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CAACCTCACGTTTTCTTAggt	0.582000														23			22		0	0	0.010504	0	0
TBC1D23	55773	broad.mit.edu	37	3	100016779	100016779	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:100016779C>T	uc003dtt.3	+	8	1066	c.889C>T	c.(889-891)Ctc>Ttc	p.L297F	TBC1D23_uc003dts.3_Missense_Mutation_p.L297F	NM_001199198	NP_001186127	Q9NUY8	TBC23_HUMAN	Homo sapiens TBC1 domain family, member 23 (TBC1D23), transcript variant 1, mRNA.	297						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TAATCACCATCTCTTTGGTAG	0.343000														27			15		0	0	0.010504	0	0
FAM55A	120400	broad.mit.edu	37	11	114393812	114393812	+	Splice_Site	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:114393812C>T	uc001ppa.3	-	5	887	c.470_splice	c.e5-1	p.K157_splice	FAM55A_uc010rxd.2_Splice_Site_p.R7_splice	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	Homo sapiens family with sequence similarity 55, member A (FAM55A), mRNA.	299						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	17		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)		TTTTTTCTCTCTCTGGTAACA	0.398000														14			4		0	0	0.009096	0	0
CHFR	55743	broad.mit.edu	37	12	133438075	133438076	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:133438075_133438076GG>AA	uc001ulf.2	-	6	848_849	c.764_765CC>TT	c.(763-765)ccc>cTT	p.P255L	CHFR_uc001ulc.1_Non-coding_Transcript|CHFR_uc001uld.2_Missense_Mutation_p.P214L|CHFR_uc001ule.2_Missense_Mutation_p.P243L|CHFR_uc010tbs.1_Missense_Mutation_p.P255L|CHFR_uc010tbt.1_Missense_Mutation_p.P163L	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	Homo sapiens checkpoint with forkhead and ring finger domains (CHFR), transcript variant 1, mRNA.	255					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.P255P(1)|p.P214P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TCTTCTTCACGGGCTCCAAATC	0.569000														58			20		0	0	0.004672	0	0
LAMA1	284217	broad.mit.edu	37	18	7036045	7036045	+	Missense_Mutation	SNP	C	T	T	rs143022454	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:7036045C>T	uc002knm.3	-	12	1874	c.1780G>A	c.(1780-1782)Gat>Aat	p.D594N	LAMA1_uc010wzj.2_Missense_Mutation_p.D70N	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	594	Laminin IV type A 1.				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)	ACCGGAATATCGTAGGACACC	0.443000														34			5		0	0	0.000602	0	0
OR2W3	343171	broad.mit.edu	37	1	248058951	248058951	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:248058951C>T	uc010pzb.2	+	0	63	c.63C>T	c.(61-63)ccC>ccT	p.P21P	OR2W3_uc001idp.1_Silent_p.P21P	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P21P(2)|p.R20Q(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTGACCGACCCCATCTGGAGA	0.527000														48			7		0	0	0.003080	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20489461	20489461	+	RNA	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:20489461C>T	uc001ytf.1	+	2		c.449C>T								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		AACACAACTTCATTCCTAAAG	0.428000														54			6		0	0	0.003080	0	0
DSG1	1828	broad.mit.edu	37	18	28914018	28914018	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:28914018T>A	uc002kwp.3	+	7	1070	c.858T>A	c.(856-858)aaT>aaA	p.N286K		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	286	Cadherin 3.				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			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)			TAAATTCAAATTTGCTCGAGA	0.343000														75			33		0	0	0.003755	0	0
ST13P4	145165	broad.mit.edu	37	13	50746534	50746534	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:50746534G>A	uc001vej.3	+	0	381	c.310G>A	c.(310-312)Gag>Aag	p.E104K	BCMS_uc010adl.1_Intron|BCMS_uc001vee.1_Intron|BCMS_uc010adm.1_Intron|BCMS_uc010adn.1_Intron|BCMS_uc001vef.1_Intron|BCMS_uc001veg.1_Intron|BCMS_uc010tgn.1_Intron|BCMS_uc001vei.1_Intron|BCMS_uc010ado.1_Intron|BCMS_uc010adp.1_Intron					Homo sapiens suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 4 (ST13P4), non-coding RNA.																		GGAGATAACAGAGGAGGTGAT	0.408000														21			10		0	0	0.008291	0	0
PRKAG2	51422	broad.mit.edu	37	7	151262925	151262925	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:151262925T>C	uc003wkk.3	-	11	1891	c.1280A>G	c.(1279-1281)gAg>gGg	p.E427G	PRKAG2_uc003wki.3_Missense_Mutation_p.E186G|PRKAG2_uc011kvl.2_Missense_Mutation_p.E302G|PRKAG2_uc003wkj.3_Missense_Mutation_p.E383G|PRKAG2_uc003wkl.2_Intron	NM_016203	NP_077747	Q9UGJ0	AAKG2_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA.	427					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		TATTCCAAGCTCATCCAGGTT	0.438000														165			19		0	0	0.001882	0	0
ZPBP	11055	broad.mit.edu	37	7	49977143	49977143	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:49977143C>T	uc003tou.3	-	7	1107	c.1037G>A	c.(1036-1038)gGa>gAa	p.G346E	ZPBP_uc010kyw.3_Missense_Mutation_p.G345E	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	346					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					CGTTTTTGCTCCATACACCAG	0.333000														92			26		0	0	0.002445	0	0
C1orf87	127795	broad.mit.edu	37	1	60466802	60466802	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:60466802G>A	uc001czs.2	-	9	1327	c.1219C>T	c.(1219-1221)Cct>Tct	p.P407S	C1orf87_uc001czr.1_5'UTR	NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	407							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TCCATTGGAGGGGCAGGGGCT	0.418000														31			10		0	0	0.008291	0	0
VWF	7450	broad.mit.edu	37	12	6220133	6220133	+	Splice_Site	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:6220133C>T	uc001qnn.1	-	4	471	c.221_splice	c.e4-1	p.G74_splice	VWF_uc010set.1_Splice_Site_p.G74_splice|VWF_uc001qno.1_Splice_Site_p.G111_splice	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	74	VWFD 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCTGGAAGTCCCCTGAAAGAG	0.388000														62			23		0	0	0.002299	0	0
IGIP	492311	broad.mit.edu	37	5	139508158	139508158	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:139508158C>T	uc003lfb.1	+	0	2638	c.97C>T	c.(97-99)Cca>Tca	p.P33S		NM_001007189	NP_001007190	A6NJ69	IGIP_HUMAN	Homo sapiens IgA-inducing protein homolog (Bos taurus) (IGIP), mRNA.	33						extracellular region											TGGGAAATCACCATGTGGAAA	0.423000														66			37		0	0	0.004289	0	0
AXDND1	126859	broad.mit.edu	37	1	179497516	179497516	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:179497516G>A	uc001gmo.3	+	22	3052	c.2665G>A	c.(2665-2667)Gaa>Aaa	p.E889K	AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.E773K|AXDND1_uc009wxh.3_Non-coding_Transcript	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	889	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TGGAGAAGATGAAAATGTTCA	0.398000														27			17		0	0	0.006122	0	0
TSKS	60385	broad.mit.edu	37	19	50248617	50248617	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:50248617C>T	uc002ppm.3	-	6	1040	c.1029G>A	c.(1027-1029)caG>caA	p.Q343Q		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	343							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCCCCTCCTCCTGATGCCACC	0.701000														5			5		0	0	0.000602	0	0
HOXB2	3212	broad.mit.edu	37	17	46620542	46620542	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:46620542C>T	uc002inm.3	-	1	1079	c.959G>A	c.(958-960)gGa>gAa	p.G320E		NM_002145	NP_002136	P14652	HXB2_HUMAN	Homo sapiens homeobox B2 (HOXB2), mRNA.	320					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						GGAGAGGCCTCCGGATAGCTG	0.597000														61			42		0	0	0.002522	0	0
CUX1	1523	broad.mit.edu	37	7	101845438	101845438	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:101845438A>G	uc003uys.4	+	17	3021	c.2894A>G	c.(2893-2895)gAa>gGa	p.E965G	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.E954G	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	954					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CAGGTTAAGGAAAAGCTGGCC	0.592000														37			74		0	0	0.003610	0	0
PCID2	55795	broad.mit.edu	37	13	113852568	113852568	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:113852568G>A	uc021rmt.1	-	2	218	c.137C>T	c.(136-138)cCa>cTa	p.P46L	PCID2_uc021rmq.1_Missense_Mutation_p.P46L|PCID2_uc021rmr.1_Missense_Mutation_p.P46L|PCID2_uc021rms.1_Missense_Mutation_p.P46L|PCID2_uc001vtg.2_Non-coding_Transcript	NM_018386	NP_060856	Q5JVF3	PCID2_HUMAN	Homo sapiens PCI domain containing 2 (PCID2), transcript variant 3, mRNA.	46					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CTTCTCCTCTGGAGAGGCCAT	0.358000														85			60		0	0	0.003610	0	0
RYR1	6261	broad.mit.edu	37	19	38996033	38996033	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:38996033G>A	uc002oit.3	+	52	8525	c.8395G>A	c.(8395-8397)Gag>Aag	p.E2799K	RYR1_uc002oiu.3_Missense_Mutation_p.E2799K|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2799	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GACCTTTTCAGAGAAGGTGAC	0.517000														7			4		0	0	0.009096	0	0
KIAA1109	84162	broad.mit.edu	37	4	123274229	123274229	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:123274229C>T	uc003ieh.3	+	78	14065	c.14020C>T	c.(14020-14022)Cgt>Tgt	p.R4674C	KIAA1109_uc003iem.3_Missense_Mutation_p.R1030C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	4674					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCCAAATTTTCGTTCAAAATC	0.368000														34			28		0	0	0.005443	0	0
PRB2	653247	broad.mit.edu	37	12	11546609	11546609	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:11546609G>A	uc010shk.1	-	2	438	c.403C>T	c.(403-405)Cct>Tct	p.P135S		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTTCCTGGAGGAGGTGGAGGA	0.602000														165			125		0	0	0.003610	0	0
PPP1R3B	79660	broad.mit.edu	37	8	8998385	8998385	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:8998385G>A	uc022arp.1	-	0	777	c.777C>T	c.(775-777)ttC>ttT	p.F259F	PPP1R3B_uc003wsn.4_Silent_p.F259F|PPP1R3B_uc003wso.4_Silent_p.F259F	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3B (PPP1R3B), transcript variant 2, mRNA.	259					glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		GAGGGCTTCCGAACTGGTCAA	0.507000														45			22		0	0	0.002780	0	0
ATP6AP2	10159	broad.mit.edu	37	X	40456558	40456558	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:40456558G>A	uc004det.3	+	3	460	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	ATP6AP2_uc010nhc.3_Non-coding_Transcript|ATP6AP2_uc011mkl.2_Missense_Mutation_p.E44K|ATP6AP2_uc011mkm.2_Intron|ATP6AP2_uc011mkn.2_Intron|ATP6AP2_uc004deu.1_5'Flank	NM_005765	NP_005756	O75787	RENR_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 2 (ATP6AP2), mRNA.	120					angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity			endometrium(1)|large_intestine(1)|lung(2)	4						ATTTTCTGAGGAAACTCCTGT	0.328000														13			24		0	0	0.006320	0	0
KIAA1804	84451	broad.mit.edu	37	1	233482338	233482338	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:233482338C>T	uc001hvt.4	+	1	1217	c.956C>T	c.(955-957)tCc>tTc	p.S319F	KIAA1804_uc001hvs.1_Missense_Mutation_p.S319F	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	319	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				ATCAAGTCTTCCTTGTTTTCT	0.478000														18			5		0	0	0.000602	0	0
ATP2A2	488	broad.mit.edu	37	12	110781220	110781220	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:110781220C>T	uc001tqk.4	+	15	3065	c.2502C>T	c.(2500-2502)ttC>ttT	p.F834F	ATP2A2_uc001tql.4_Silent_p.F834F|ATP2A2_uc021rdt.1_Silent_p.F682F|ATP2A2_uc001tqn.4_5'Flank|ATP2A2_uc009zvn.3_5'Flank	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	834					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GGCTCTTTTTCCGTTACTTGG	0.413000														35			30		0	0	0.009535	0	0
MUC4	4585	broad.mit.edu	37	3	195517627	195517627	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:195517627C>T	uc021xjp.1	-	1	980	c.824G>A	c.(823-825)gGa>gAa	p.G275E	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.G157E	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	280					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCCTGGGTTTCCAAGAGTGGA	0.473000														41			26		0	0	0.005443	0	0
ZNF530	348327	broad.mit.edu	37	19	58118507	58118507	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:58118507G>A	uc002qpk.2	+	2	1834	c.1614G>A	c.(1612-1614)agG>agA	p.R538R	ZNF530_uc002qpl.3_Non-coding_Transcript|ZNF530_uc021vcm.1_Intron	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	Homo sapiens zinc finger protein 530 (ZNF530), mRNA.	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R538K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTCAGCATAGGAGAGTTCACA	0.458000														32			13		0	0	0.001855	0	0
SPINK13	153218	broad.mit.edu	37	5	147661795	147661795	+	Splice_Site	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:147661795G>A	uc003lpc.3	+	4	439	c.236_splice	c.e4+1	p.R79_splice	AK054753_uc003lpb.1_Intron|SPINK13_uc010jgt.3_Splice_Site	NM_001040129	NP_001035218	Q1W4C9	ISK13_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 13 (putative) (SPINK13), mRNA.	79	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			breast(2)|lung(3)	5						ttgaacagaggtaagttcaga	0.383000														28			16		0	0	0.003163	0	0
PAPPA2	60676	broad.mit.edu	37	1	176661355	176661355	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:176661355A>T	uc001gkz.3	+	5	3689	c.2525A>T	c.(2524-2526)aAg>aTg	p.K842M	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	842					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAAAGCAGAAAGCCCACCCCC	0.498000														80			49		0	0	0.003610	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919715	142919715	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:142919715G>A	uc011ksx.2	+	0	544	c.544G>A	c.(544-546)Gag>Aag	p.E182K		NM_176882	NP_795363	P59535	T2R40_HUMAN	Homo sapiens taste receptor, type 2, member 40 (TAS2R40), mRNA.	182					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.T181T(1)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					CAACTCCACGGAGAAGAAGTA	0.458000														84			87		0	0	0.003610	0	0
CSMD3	114788	broad.mit.edu	37	8	114031403	114031403	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:114031403G>A	uc003ynu.3	-	5	1082	c.923C>T	c.(922-924)tCt>tTt	p.S308F	CSMD3_uc003ynt.3_Missense_Mutation_p.S268F|CSMD3_uc011lhx.2_Missense_Mutation_p.S308F|CSMD3_uc010mcx.1_Missense_Mutation_p.S308F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	308	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTCATTCCAGATAACCTGAA	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				49			27		0	0	0.006320	0	0
C1orf87	127795	broad.mit.edu	37	1	60506689	60506689	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:60506689C>T	uc001czs.2	-	3	565	c.457G>A	c.(457-459)Gtg>Atg	p.V153M		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	153							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGCCTCTCACCATCTGTTCC	0.463000														107			31		0	0	0.009535	0	0
PCSK4	54760	broad.mit.edu	37	19	1487053	1487053	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:1487053C>T	uc002ltb.1	-	7	929	c.867G>A	c.(865-867)ggG>ggA	p.G289G	PCSK4_uc002lta.2_Silent_p.G101G	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA.	289	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		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)		GCGTGCCCAGCCCGCCGCGGC	0.697000														19			8		0	0	0.006214	0	0
PTPN5	84867	broad.mit.edu	37	11	18751000	18751000	+	Splice_Site	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:18751000C>T	uc001mpd.3	-	14	2035	c.1604_splice	c.e14+1	p.R535_splice	PTPN5_uc001mpb.3_Splice_Site_p.R503_splice|PTPN5_uc001mpc.3_Splice_Site_p.R535_splice|PTPN5_uc010rdj.2_Splice_Site_p.R479_splice|PTPN5_uc001mpf.3_Splice_Site_p.R511_splice|PTPN5_uc001mpe.3_Splice_Site_p.R503_splice|PTPN5_uc010rdk.2_Splice_Site_p.R480_splice	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	535	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GTGGGCTGACCTGTCCTGACG	0.662000														16			10		0	0	0.000978	0	0
ADCY5	111	broad.mit.edu	37	3	123022927	123022927	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:123022927G>A	uc003egh.2	-	12	2546	c.2546C>T	c.(2545-2547)gCt>gTt	p.A849V	ADCY5_uc021xdd.1_Missense_Mutation_p.A499V|ADCY5_uc003egg.2_Missense_Mutation_p.A482V|ADCY5_uc003egi.1_Missense_Mutation_p.A408V	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	849					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GTTGACAAAAGCCGCCAGGAA	0.597000														27			12		0	0	0.001855	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315425	30315425	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:30315425G>A	uc009xle.2	-	2	3789	c.3652C>T	c.(3652-3654)Cat>Tat	p.H1218Y	KIAA1462_uc001iux.3_Missense_Mutation_p.H1218Y|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.H1080Y	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1218										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCTACAAAATGGAATAAAGTG	0.493000														105			49		0	0	0.003610	0	0
BUB1	699	broad.mit.edu	37	2	111419206	111419206	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:111419206G>A	uc002tgc.3	-	9	1282	c.1170C>T	c.(1168-1170)gcC>gcT	p.A390A	BUB1_uc010yxh.2_Silent_p.A370A|BUB1_uc010fkb.3_Silent_p.A390A|BUB1_uc002tgd.2_Silent_p.A390A	NM_004336	NP_004327	O43683	BUB1_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast) (BUB1), mRNA.	390					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TTACTGTCTGGGCTTTCAAAG	0.522000														42			34		0	0	0.003271	0	0
SELP	6403	broad.mit.edu	37	1	169565373	169565373	+	Splice_Site	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:169565373C>T	uc001ggi.4	-	12	1957	c.1892_splice	c.e12-1	p.G631_splice	SELP_uc001ggh.3_Splice_Site_p.G466_splice|SELP_uc009wvr.3_Splice_Site_p.G631_splice	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	631	Sushi 7.		G -> V (in dbSNP:rs3917812).		platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GATGCTATGCCTGTTGTGAGA	0.463000														64			49		0	0	0.003610	0	0
OBSL1	23363	broad.mit.edu	37	2	220430136	220430136	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:220430136G>A	uc010fwk.3	-	5	2549	c.2235C>T	c.(2233-2235)ttC>ttT	p.F745F	OBSL1_uc010zli.1_5'Flank|OBSL1_uc010fwl.2_Silent_p.F745F|OBSL1_uc002vmi.3_Silent_p.F745F	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	745	Ig-like 5.				cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		AGGTTGCCGGGAAGTCCACCC	0.602000											OREG0003987	type=REGULATORY REGION|Gene=BC061909|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		43			25		0	0	0.005443	0	0
TRIM61	391712	broad.mit.edu	37	4	165891019	165891019	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:165891019C>T	uc003iqw.3	-	2	747	c.136G>A	c.(136-138)Gat>Aat	p.D46N		NM_001012414	NP_001012414	Q5EBN2	TRI61_HUMAN	Homo sapiens tripartite motif containing 61 (TRIM61), mRNA.	46						intracellular	zinc ion binding			NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.155)		TCATGTAGATCCTTCCAGGAC	0.463000														43			8		0	0	0.008291	0	0
PRKCD	5580	broad.mit.edu	37	3	53213622	53213622	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:53213622C>T	uc003dgl.3	+	3	498	c.145C>T	c.(145-147)Ccg>Tcg	p.P49S	PRKCD_uc003dgm.3_Missense_Mutation_p.P49S|PRKCD_uc003dgn.2_Missense_Mutation_p.P49S	NM_006254	NP_997704	Q05655	KPCD_HUMAN	Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.	49	C2.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of MAP kinase activity|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	p.P49P(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GCAGAAGAAGCCGACCATGTA	0.592000														24			7		0	0	0.003080	0	0
LYPD4	147719	broad.mit.edu	37	19	42341250	42341250	+	Silent	SNP	G	A	A	rs148256898		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:42341250G>A	uc002orp.1	-	4	1692	c.708C>T	c.(706-708)gtC>gtT	p.V236V	LYPD4_uc002orq.1_Silent_p.V201V	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN	Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA.	236						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GGCCTAAGACGACACCCCAAG	0.483000														51			24		0	0	0.002299	0	0
SLIT1	6585	broad.mit.edu	37	10	98806450	98806450	+	Missense_Mutation	SNP	C	T	T	rs147332825		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:98806450C>T	uc001kmw.2	-	17	2066	c.1814G>A	c.(1813-1815)cGg>cAg	p.R605Q	SLIT1_uc009xvh.1_Missense_Mutation_p.R615Q	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	605					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CATGCCGCTCCGGATGGACTC	0.622000														16			9		0	0	0.006214	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51957944	51957944	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:51957944A>G	uc002pwt.3	-	4	1209	c.1142T>C	c.(1141-1143)tTc>tCc	p.F381S	SIGLEC8_uc010yda.2_Missense_Mutation_p.F272S|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.F288S	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	381					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)		TCACATGATGAAGATGATGCA	0.597000														69			28		0	0	0.009535	0	0
TPTE	7179	broad.mit.edu	37	21	10910328	10910328	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:10910328C>T	uc002yip.1	-	21	1796	c.1428G>A	c.(1426-1428)gtG>gtA	p.V476V	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.V458V|TPTE_uc002yir.1_Silent_p.V438V|TPTE_uc010gkv.1_Silent_p.V338V	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	476	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S475*(2)|p.V476V(1)|p.V458V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTGCACTTTCACATCATCAT	0.343000														108			12		0	0	0.001368	0	0
CUBN	8029	broad.mit.edu	37	10	16932473	16932473	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:16932473C>T	uc001ioo.3	-	54	8704	c.8652G>A	c.(8650-8652)ggG>ggA	p.G2884G	CUBN_uc009xjq.1_Non-coding_Transcript|CUBN_uc009xjr.1_Silent_p.G240G	NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	2884	CUB 21.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGCCACGTTCCCACAGCCAG	0.552000														59			23		0	0	0.002780	0	0
APPL1	26060	broad.mit.edu	37	3	57271521	57271521	+	Splice_Site	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:57271521A>T	uc003dio.3	+	3	301	c.154_splice	c.e3-1	p.N52_splice	APPL1_uc010hnb.3_Splice_Site_p.N52_splice|APPL1_uc011bey.1_Splice_Site_p.N35_splice	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.	52	Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TTTCCATAGAATGAATTAAGT	0.229000														18			6		0	0	0.001984	0	0
TNIK	23043	broad.mit.edu	37	3	170895115	170895115	+	Splice_Site	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:170895115G>A	uc003fhh.2	-	8	1039	c.694_splice	c.e8+1	p.P232_splice	TNIK_uc003fhi.2_Splice_Site_p.P232_splice|TNIK_uc003fhj.2_Splice_Site_p.P232_splice|TNIK_uc003fhk.2_Splice_Site_p.P232_splice|TNIK_uc003fhl.2_Splice_Site_p.P232_splice|TNIK_uc003fhm.2_Splice_Site_p.P232_splice|TNIK_uc003fhn.2_Splice_Site_p.P232_splice|TNIK_uc003fho.2_Splice_Site_p.P232_splice	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	232	Protein kinase.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GGGTACTTACGGGGAGCACCT	0.498000														9			5		0	0	0.000602	0	0
CSMD3	114788	broad.mit.edu	37	8	113246664	113246664	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:113246664T>G	uc003ynu.3	-	67	10829	c.10670A>C	c.(10669-10671)tAt>tCt	p.Y3557S	CSMD3_uc003yns.3_Missense_Mutation_p.Y2759S|CSMD3_uc003ynt.3_Missense_Mutation_p.Y3517S|CSMD3_uc011lhx.2_Missense_Mutation_p.Y3388S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3557						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTAATAAGATATATGCGTAA	0.338000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				100			44		0	0	0.003610	0	0
TBCD	6904	broad.mit.edu	37	17	80847546	80847546	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:80847546C>T	uc002kfy.1	+	15	1666	c.1536C>T	c.(1534-1536)gcC>gcT	p.A512A	TBCD_uc002kfx.1_Silent_p.A495A|TBCD_uc002kfz.3_Silent_p.A512A	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	512					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	GTPase activator activity|beta-tubulin binding|chaperone binding	p.A512A(1)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CTCCGCAGGCCGCCTTCCAGG	0.502000														28			16		0	0	0.007413	0	0
DLEC1	9940	broad.mit.edu	37	3	38103711	38103711	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:38103711C>T	uc003chp.1	+	3	746	c.725C>T	c.(724-726)tCc>tTc	p.S242F	DLEC1_uc003cho.1_Missense_Mutation_p.S242F|DLEC1_uc010hgv.1_Missense_Mutation_p.S242F|DLEC1_uc010hgw.1_5'Flank|DLEC1_uc003chq.1_5'Flank	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	242					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)		GAGAAGCGTTCCGTCCAGAAG	0.463000														59			24		0	0	0.005443	0	0
KPRP	448834	broad.mit.edu	37	1	152732718	152732718	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:152732718C>T	uc001fal.1	+	1	712	c.654C>T	c.(652-654)ttC>ttT	p.F218F	KPRP_uc021ozf.1_Silent_p.F218F	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	218						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGCTGTTTCCCTCAGTATC	0.572000														114			20		0	0	0.002299	0	0
SLC6A5	9152	broad.mit.edu	37	11	20676294	20676294	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:20676294G>A	uc001mqd.3	+	15	2547	c.2274G>A	c.(2272-2274)tgG>tgA	p.W758*	SLC6A5_uc009yic.3_Nonsense_Mutation_p.W523*	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	758					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AGCCGGACTGGGGCCCATTCT	0.557000														78			41		0	0	0.002522	0	0
CCDC150	284992	broad.mit.edu	37	2	197530331	197530331	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:197530331C>T	uc002utp.1	+	5	821	c.686C>T	c.(685-687)tCt>tTt	p.S229F	CCDC150_uc002uto.1_Missense_Mutation_p.S229F|CCDC150_uc010zgq.1_Intron|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.	229										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTTAGGGAATCTTTAGAGAAA	0.403000														16			4		0	0	0.000602	0	0
BZRAP1	9256	broad.mit.edu	37	17	56389063	56389063	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:56389063C>T	uc002ivx.4	-	17	3821	c.2950G>A	c.(2950-2952)Gat>Aat	p.D984N	BZRAP1_uc010dcs.3_Missense_Mutation_p.D924N|BZRAP1_uc010wnt.2_Missense_Mutation_p.D984N	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	984	Fibronectin type-III 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATCTGCACATCCAGAGGGGCA	0.607000														20			10		0	0	0.000978	0	0
DDX51	317781	broad.mit.edu	37	12	132626863	132626863	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:132626863C>T	uc001ujy.4	-	3	814	c.775G>A	c.(775-777)Ggc>Agc	p.G259S	NOC4L_uc001ujz.1_5'Flank	NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 (DDX51), mRNA.	259	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		TTCCCACTGCCTGTTGGGGCA	0.612000														48			14		0	0	0.001855	0	0
C7orf58	79974	broad.mit.edu	37	7	120935629	120935629	+	Missense_Mutation	SNP	C	T	T	rs147434701	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:120935629C>T	uc003vjq.4	+	22	3451	c.3004C>T	c.(3004-3006)Cat>Tat	p.H1002Y		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	1002						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					ATCGCCATATCATGTCAGAGG	0.378000														29			69		0	0	0.003610	0	0
SCN5A	6331	broad.mit.edu	37	3	38622442	38622442	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:38622442C>T	uc021wvo.1	-	15	3260	c.3208G>A	c.(3208-3210)Gag>Aag	p.E1070K	SCN5A_uc021wvk.1_Missense_Mutation_p.E1070K|SCN5A_uc021wvl.1_Missense_Mutation_p.E1070K|SCN5A_uc021wvm.1_Missense_Mutation_p.E1070K|SCN5A_uc021wvn.1_Missense_Mutation_p.E1070K|SCN5A_uc021wvp.1_Missense_Mutation_p.E1070K|SCN5A_uc021wvq.1_Missense_Mutation_p.E1070K|SCN5A_uc021wvr.1_Missense_Mutation_p.E1070K|SCN5A_uc021wvs.1_Missense_Mutation_p.E1070K|SCN5A_uc021wvt.1_Missense_Mutation_p.E1070K|SCN5A_uc021wvu.1_Missense_Mutation_p.E1070K|SCN5A_uc021wvv.1_Missense_Mutation_p.E1070K|SCN5A_uc021wvj.1_Missense_Mutation_p.E936K|SCN5A_uc021wvi.1_Missense_Mutation_p.E936K|SCN5A_uc021wvw.1_Missense_Mutation_p.E681K	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1070					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.T1069T(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GACTCCTCCTCCGTGCCCAGG	0.627000														42			11		0	0	0.000978	0	0
LMLN	89782	broad.mit.edu	37	3	197723072	197723072	+	Silent	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:197723072T>C	uc010iar.3	+	9	1096	c.1074T>C	c.(1072-1074)tgT>tgC	p.C358C	LMLN_uc003fyt.3_Silent_p.C306C|LMLN_uc011buo.2_Silent_p.C358C|LMLN_uc010ias.3_Silent_p.C306C|LMLN_uc003fyu.3_Silent_p.C118C	NM_001136049	NP_001129521	Q96KR4	LMLN_HUMAN	Homo sapiens leishmanolysin-like (metallopeptidase M8 family) (LMLN), transcript variant 1, mRNA.	358					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		ATTTTGATTGTCCAGTTCTAG	0.363000														33			14		0	0	0.002450	0	0
MUC5B	727897	broad.mit.edu	37	11	1271167	1271167	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:1271167C>T	uc001lta.3	+	30	13116	c.13057C>T	c.(13057-13059)Ccc>Tcc	p.P4353S		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4353	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACAATCCACCCCTCCTCCAC	0.647000														47			19		0	0	0.008871	0	0
SDPR	8436	broad.mit.edu	37	2	192701240	192701240	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:192701240C>T	uc002utb.3	-	1	1042	c.687G>A	c.(685-687)gaG>gaA	p.E229E		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	229						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)	TTTTTATTTTCTCTGCCCTAC	0.493000														112			72		0	0	0.003610	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18800840	18800840	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:18800840G>A	uc001rdt.3	+	31	4332	c.4216G>A	c.(4216-4218)Gga>Aga	p.G1406R	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.G1447R|PIK3C2G_uc010sic.2_Missense_Mutation_p.G1225R	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1406	C2.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AGAGCTCCAAGGACATGTCTT	0.338000														35			4		0	0	0.000602	0	0
FXYD4	53828	broad.mit.edu	37	10	43871008	43871008	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:43871008C>T	uc001jaq.1	+	5	491	c.159C>T	c.(157-159)atC>atT	p.I53I		NM_001184963	NP_001171892	P59646	FXYD4_HUMAN	Homo sapiens FXYD domain containing ion transport regulator 4 (FXYD4), transcript variant 2, mRNA.	53						integral to membrane				NS(1)|large_intestine(1)|lung(3)	5						TTGCTGGGATCGCGGCAGTTC	0.627000														28			21		0	0	0.001882	0	0
MON1B	22879	broad.mit.edu	37	16	77228850	77228850	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:77228850C>T	uc002fez.3	+	3	1424	c.1094C>T	c.(1093-1095)gCc>gTc	p.A365V	MON1B_uc010vnf.2_Missense_Mutation_p.A256V|MON1B_uc010vng.2_Missense_Mutation_p.A219V|MON1B_uc002ffa.3_Missense_Mutation_p.A245V	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	Homo sapiens MON1 homolog B (yeast) (MON1B), mRNA.	365							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						GCCATGGCCGCCTGCCGGCGC	0.612000														21			8		0	0	0.003080	0	0
POU5F2	134187	broad.mit.edu	37	5	93076970	93076970	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:93076970G>A	uc003kkl.1	-	0	340	c.300C>T	c.(298-300)ctC>ctT	p.L100L	FAM172A_uc010jbd.3_Intron|FAM172A_uc011cuf.2_Intron|FAM172A_uc011cug.2_Intron|FAM172A_uc011cuh.2_Intron|FAM172A_uc011cui.2_Intron|FAM172A_uc011cuj.2_Intron	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN	Homo sapiens POU domain class 5, transcription factor 2 (POU5F2), mRNA.	100						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		AGGGCCCCGGGAGGGCGCCTT	0.637000														28			11		0	0	0.000978	0	0
GANC	2595	broad.mit.edu	37	15	42643552	42643552	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:42643552C>T	uc001zpi.3	+	22	2871	c.2557C>T	c.(2557-2559)Ccc>Tcc	p.P853S	CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_5'UTR|CAPN3_uc010udf.1_5'Flank|CAPN3_uc010udg.1_5'Flank	NM_198141	NP_937784	Q8TET4	GANC_HUMAN	Homo sapiens glucosidase, alpha; neutral C (GANC), mRNA.	853					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		GGGTCATTATCCCAGCAAGTG	0.483000														32			16		0	0	0.006122	0	0
FAM184A	79632	broad.mit.edu	37	6	119341252	119341252	+	Missense_Mutation	SNP	G	A	A	rs141308759		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:119341252G>A	uc003pyj.3	-	3	1571	c.1223C>T	c.(1222-1224)tCg>tTg	p.S408L	FAM184A_uc003pyk.4_Missense_Mutation_p.S288L|FAM184A_uc003pyl.4_Missense_Mutation_p.S288L	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	408								p.S408L(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						ATTGACTCTCGATTTTTCTGA	0.373000														39			22		0	0	0.002299	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140183094	140183094	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140183094C>T	uc003lhf.2	+	0	2312	c.2312C>T	c.(2311-2313)gCt>gTt	p.A771V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.A771V	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	752					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCTCATGGCTTTTAGCCCT	0.542000														60			34		0	0	0.003755	0	0
ELTD1	64123	broad.mit.edu	37	1	79403957	79403957	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:79403957G>A	uc001diq.4	-	4	560	c.404C>T	c.(403-405)tCc>tTc	p.S135F		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	135					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTCTTTTATGGATCTGATCTG	0.308000														26			7		0	0	0.003080	0	0
DNAH5	1767	broad.mit.edu	37	5	13920673	13920673	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:13920673C>T	uc003jfd.2	-	5	756	c.714G>A	c.(712-714)acG>acA	p.T238T	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	238	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCAAGTAGTCCGTAGGTTCCT	0.353000									Kartagener syndrome					67			25		0	0	0.003330	0	0
PTPRD	5789	broad.mit.edu	37	9	8486155	8486155	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:8486155C>T	uc003zkk.3	-	27	3405	c.2662G>A	c.(2662-2664)Gga>Aga	p.G888R	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	888	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TATGATGCTCCCTTGTGGATG	0.463000										TSP Lung(15;0.13)				17			25		0	0	0.003954	0	0
DTX3L	151636	broad.mit.edu	37	3	122290533	122290533	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:122290533A>C	uc003efk.3	+	4	2251	c.2162A>C	c.(2161-2163)tAt>tCt	p.Y721S	DTX3L_uc010hrj.3_Missense_Mutation_p.Y209S|DTX3L_uc021xdb.1_3'UTR	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	Homo sapiens deltex 3-like (Drosophila) (DTX3L), mRNA.	721					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		AGGTATGGCTATCCTGATCCT	0.363000														28			5		0	0	0.000602	0	0
CP	1356	broad.mit.edu	37	3	148897413	148897413	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:148897413C>T	uc003ewy.4	-	14	2844	c.2591G>A	c.(2590-2592)aGa>aAa	p.R864K	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003eww.4_Missense_Mutation_p.R16K|CP_uc003ewx.4_Missense_Mutation_p.R645K|CP_uc003ewz.3_Missense_Mutation_p.R864K	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	864	F5/8 type A 3.|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AGCTCCAGATCTTTCTGGGAT	0.363000														24			17		0	0	0.008871	0	0
PARP4	143	broad.mit.edu	37	13	25016098	25016098	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:25016098A>C	uc001upl.3	-	29	3658	c.3552T>G	c.(3550-3552)aaT>aaG	p.N1184K		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	1184					DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding	p.E1183D(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AAGGCGACTCATTCTCATCCT	0.403000														12			9		0	0	0.000978	0	0
PROL1	58503	broad.mit.edu	37	4	71275399	71275399	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:71275399G>A	uc003hfi.3	+	2	528	c.354G>A	c.(352-354)agG>agA	p.R118R		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	118	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				GACCTATTAGGATATTAAAAC	0.403000														94			21		0	0	0.002780	0	0
KCNB2	9312	broad.mit.edu	37	8	73849114	73849114	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:73849114C>T	uc003xzb.3	+	2	2112	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	508					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACAAGTCTTTCGAGAATAAGT	0.547000														91			28		0	0	0.007291	0	0
DIP2C	22982	broad.mit.edu	37	10	486818	486819	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:486818_486819GG>AA	uc001ifp.3	-	3	476_477	c.386_387CC>TT	c.(385-387)acc>aTT	p.T129I	DIP2C_uc009xhk.1_Missense_Mutation_p.P131F	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	129						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TACCTGGAGGGGTGTAGGCGTC	0.584000														41			18		0	0	0.004672	0	0
ZNF569	148266	broad.mit.edu	37	19	37904033	37904033	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:37904033G>A	uc002ogj.3	-	8	2531	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F	ZNF569_uc002ogh.3_Silent_p.F350F|ZNF569_uc002ogi.3_Silent_p.F509F	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S532F(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATGTGTAATGAAGTTTTGCT	0.363000														46			13		0	0	0.001368	0	0
SLC4A5	57835	broad.mit.edu	37	2	74475491	74475491	+	Silent	SNP	G	A	A	rs148607545		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:74475491G>A	uc002sko.1	-	12	1778	c.1776C>T	c.(1774-1776)ttC>ttT	p.F592F	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Silent_p.F592F|SLC4A5_uc010ffc.1_Silent_p.F592F|SLC4A5_uc002skp.1_Silent_p.F528F|SLC4A5_uc002sks.1_Silent_p.F592F	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	592						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	p.F592F(3)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGCTGAAGTCGAAGAGGAGCT	0.592000														61			36		0	0	0.004878	0	0
GFM2	84340	broad.mit.edu	37	5	74046476	74046476	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:74046476G>A	uc010izj.1	-	7	869	c.543C>T	c.(541-543)acC>acT	p.T181T	GFM2_uc003kdh.1_Silent_p.T149T|GFM2_uc003kdi.1_Silent_p.T149T|GFM2_uc010izk.1_Non-coding_Transcript|GFM2_uc003kdj.1_Silent_p.T149T|GFM2_uc010izl.1_Silent_p.T107T	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	Homo sapiens G elongation factor, mitochondrial 2 (GFM2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	149					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		CAACCTCCAAGGTAAAGTCCA	0.423000														47			25		0	0	0.008361	0	0
FAM125A	93343	broad.mit.edu	37	19	17533260	17533260	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:17533260C>T	uc002ngo.1	+	3	439	c.406C>T	c.(406-408)Cga>Tga	p.R136*	FAM125A_uc002ngq.1_Nonsense_Mutation_p.R32*	NM_138401	NP_612410	Q96EY5	F125A_HUMAN	Homo sapiens family with sequence similarity 125, member A (FAM125A), mRNA.	136	MABP.				protein transport	late endosome membrane|microtubule organizing center|nucleus	SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	8						TGGATACCTTCGAATAGGGTA	0.582000														36			5		0	0	0.000602	0	0
OR4K1	79544	broad.mit.edu	37	14	20404396	20404396	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:20404396G>A	uc001vwj.2	+	0	630	c.571G>A	c.(571-573)Gat>Aat	p.D191N		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGCTTGCATGGATACATATGA	0.443000														75			37		0	0	0.006999	0	0
SERPINA9	327657	broad.mit.edu	37	14	94933631	94933631	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:94933631C>T	uc001ydf.3	-	2	932	c.771G>A	c.(769-771)atG>atA	p.M257I	SERPINA9_uc001yde.3_Missense_Mutation_p.M157I|SERPINA9_uc010avc.3_Missense_Mutation_p.M108I|SERPINA9_uc001ydg.3_Missense_Mutation_p.M221I|SERPINA9_uc001ydh.1_Missense_Mutation_p.M257I|SERPINA9_uc001ydi.1_Missense_Mutation_p.M221I	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	239					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TCTGGTGCATCATGGGGACAT	0.512000														30			12		0	0	0.004007	0	0
CADPS2	93664	broad.mit.edu	37	7	121960387	121960387	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:121960387G>A	uc022akp.1	-	28	4145	c.3723C>T	c.(3721-3723)acC>acT	p.T1241T	CADPS2_uc003vkg.4_Silent_p.T895T|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Silent_p.T1200T|CADPS2_uc022akr.1_Silent_p.T1241T	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	1241					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	p.R1240M(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AGTCCCTGTAGGTTTTCTGAA	0.398000														69			161		0	0	0.003610	0	0
CENPF	1063	broad.mit.edu	37	1	214813728	214813728	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:214813728C>T	uc001hkm.3	+	11	2221	c.2047C>T	c.(2047-2049)Cac>Tac	p.H683Y		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	683					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)		CAGAAACCTTCACAACGTGTT	0.418000														15			5		0	0	0.000602	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444265	5444265	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:5444265G>A	uc010qzd.2	+	0	925	c.835G>A	c.(835-837)Gcc>Acc	p.A279T	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTTATCATGGCCAATATCTA	0.473000														58			29		0	0	0.008361	0	0
FAM213A	84293	broad.mit.edu	37	10	82187231	82187231	+	Silent	SNP	C	T	T	rs150904688	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:82187231C>T	uc021pux.1	+	4	685	c.555C>T	c.(553-555)ttC>ttT	p.F185F	FAM213A_uc001kcc.4_Silent_p.F185F|FAM213A_uc001kcd.4_Silent_p.F174F|FAM213A_uc001kcf.4_Silent_p.F185F|FAM213A_uc001kce.4_Silent_p.F185F|FAM213A_uc021puy.1_Silent_p.F181F	NM_001243779	NP_001230708	Q9BRX8	CJ058_HUMAN	Homo sapiens chromosome 10 open reading frame 58 (C10orf58), transcript variant 3, mRNA.	185						extracellular region											GGGGAGTTTTCGTGGTGGGAT	0.522000														28			16		0	0	0.007413	0	0
CSMD2	114784	broad.mit.edu	37	1	34038122	34038122	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:34038122G>A	uc001bxm.1	-	49	7923	c.7746C>T	c.(7744-7746)gtC>gtT	p.V2582V	CSMD2_uc001bxn.1_Silent_p.V2584V	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2584	Sushi 15.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACTGTGGTGGGACATTGCGGT	0.587000														97			37		0	0	0.004289	0	0
TEX101	83639	broad.mit.edu	37	19	43922487	43922487	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:43922487C>T	uc002owk.3	+	8	1303	c.742C>T	c.(742-744)Cct>Tct	p.P248S	TEX101_uc010xwo.2_Missense_Mutation_p.P230S	NM_031451	NP_001123483	Q9BY14	TX101_HUMAN	Homo sapiens testis expressed 101 (TEX101), transcript variant 1, mRNA.	230						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				TCTTCCCATTCCTGTTTGGGG	0.498000														93			42		0	0	0.003610	0	0
UBR3	130507	broad.mit.edu	37	2	170897478	170897478	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:170897478C>T	uc010zdi.2	+	31	4643	c.4643C>T	c.(4642-4644)cCa>cTa	p.P1548L	UBR3_uc002ufr.4_Non-coding_Transcript|UBR3_uc010fqa.3_Missense_Mutation_p.P369L|UBR3_uc002uft.4_Missense_Mutation_p.P405L|UBR3_uc010zdj.2_Missense_Mutation_p.P239L|UBR3_uc002ufu.4_Missense_Mutation_p.P54L	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 3 (putative) (UBR3), mRNA.	1548					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TTAATGATGCCACAACCCTTA	0.343000														30			4		0	0	0.001168	0	0
CASC5	57082	broad.mit.edu	37	15	40921491	40921491	+	Silent	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:40921491A>T	uc010bbs.1	+	13	5843	c.5682A>T	c.(5680-5682)atA>atT	p.I1894I	CASC5_uc010bbt.1_Silent_p.I1868I	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	1894	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ATGGGAGAATAACAATAAGGG	0.378000														14			10		0	0	0.008291	0	0
TMEM215	401498	broad.mit.edu	37	9	32784392	32784392	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:32784392G>A	uc022bfh.1	+	0	211	c.211G>A	c.(211-213)Gag>Aag	p.E71K	TMEM215_uc003zri.4_Missense_Mutation_p.E71K	NM_212558	NP_997723	Q68D42	TM215_HUMAN	Homo sapiens transmembrane protein 215 (TMEM215), mRNA.	71						integral to membrane		p.P70T(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CAAGTGGCCAGAGAACGAGCT	0.607000														27			21		0	0	0.010504	0	0
CHD3	1107	broad.mit.edu	37	17	7797852	7797852	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:7797852C>T	uc002gjd.2	+	7	1374	c.1372C>T	c.(1372-1374)Cgt>Tgt	p.R458C	CHD3_uc002gje.2_Missense_Mutation_p.R399C|CHD3_uc002gjf.2_Missense_Mutation_p.R399C|CHD3_uc002gjg.1_Missense_Mutation_p.R227C	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	399					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CACCTGCCCTCGTGCCTACCA	0.577000														58			15		0	0	0.004007	0	0
SCN5A	6331	broad.mit.edu	37	3	38648291	38648291	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:38648291C>T	uc021wvo.1	-	7	1061	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	SCN5A_uc021wvk.1_Missense_Mutation_p.E337K|SCN5A_uc021wvl.1_Missense_Mutation_p.E337K|SCN5A_uc021wvm.1_Missense_Mutation_p.E337K|SCN5A_uc021wvn.1_Missense_Mutation_p.E337K|SCN5A_uc021wvp.1_Missense_Mutation_p.E337K|SCN5A_uc021wvq.1_Missense_Mutation_p.E337K|SCN5A_uc021wvr.1_Missense_Mutation_p.E337K|SCN5A_uc021wvs.1_Missense_Mutation_p.E337K|SCN5A_uc021wvt.1_Missense_Mutation_p.E337K|SCN5A_uc021wvu.1_Missense_Mutation_p.E337K|SCN5A_uc021wvv.1_Missense_Mutation_p.E337K|SCN5A_uc021wvj.1_Missense_Mutation_p.E203K|SCN5A_uc021wvi.1_Missense_Mutation_p.E203K|SCN5A_uc021wvw.1_5'Flank	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	337					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.E337K(3)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CGGTAGCCCTCCGGACATGTC	0.602000														62			21		0	0	0.003954	0	0
PSG5	5673	broad.mit.edu	37	19	43674288	43674288	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:43674288G>A	uc002ovu.3	-	4	1098	c.967C>T	c.(967-969)Cct>Tct	p.P323S	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.P323S	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	323					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				ATTCCTGAAGGAGCTGTCATG	0.428000														96			37		0	0	0.007835	0	0
GMDS	2762	broad.mit.edu	37	6	1742745	1742745	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:1742745C>T	uc003mtq.3	-	7	1059	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	GMDS_uc021ykn.1_Missense_Mutation_p.E253K	NM_001500	NP_001491	O60547	GMDS_HUMAN	Homo sapiens GDP-mannose 4,6-dehydratase (GMDS), transcript variant 1, mRNA.	283					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		GDP-mannose 4,6-dehydratase activity|coenzyme binding		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TCGACAAATTCCCGGACACTA	0.458000														38			19		0	0	0.010504	0	0
OR8U8	504189	broad.mit.edu	37	11	56143630	56143630	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:56143630C>T	uc001nit.2	+	0	531	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										TCAACCATTTCTATTGTGATG	0.463000														228			24		0	0	0.008361	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52002469	52002469	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:52002469G>A	uc002pwx.1	-	3	1146	c.1090C>T	c.(1090-1092)Cct>Tct	p.P364S	SIGLEC12_uc002pww.1_Missense_Mutation_p.P246S|SIGLEC12_uc010eoy.1_Missense_Mutation_p.P91S	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	364					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TTCTGAGGAGGATCTGGAACA	0.562000														45			17		0	0	0.008871	0	0
OR2A14	135941	broad.mit.edu	37	7	143826740	143826740	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:143826740G>A	uc011kua.2	+	0	535	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CTTCTTCTGTGAAATCCTGTC	0.562000														214			215		0	0	0.003610	0	0
CCBE1	147372	broad.mit.edu	37	18	57103257	57103257	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:57103257G>A	uc002lib.3	-	10	1174	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	CCBE1_uc010dpq.3_Silent_p.F97F|CCBE1_uc002lia.3_Silent_p.F221F	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	368					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	p.E367*(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GAGGTAAAGGGAACTCCTCTG	0.532000														83			46		0	0	0.009718	0	0
HTT	3064	broad.mit.edu	37	4	3109019	3109019	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:3109019C>T	uc021xkv.1	+	5	761	c.616C>T	c.(616-618)Ctg>Ttg	p.L206L		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	206					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAGGCCTTACCTGGTGAACCT	0.473000														51			11		0	0	0.001368	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43871886	43871886	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:43871886T>C	uc010yny.2	+	1	157	c.74T>C	c.(73-75)aTg>aCg	p.M25T	PLEKHH2_uc002rte.3_Missense_Mutation_p.M25T|PLEKHH2_uc002rtf.3_Missense_Mutation_p.M25T	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	25						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)				TCCCAACTCATGAAATTTAGA	0.388000														179			80		0	0	0.003610	0	0
PLK2	10769	broad.mit.edu	37	5	57755647	57755647	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:57755647G>A	uc003jrn.3	-	0	320	c.140C>T	c.(139-141)tCc>tTc	p.S47F	PLK2_uc021xyx.1_Missense_Mutation_p.S47F|PLK2_uc011cql.1_5'Flank	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA.	47					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		TTGCGCCTGGGACTGAGGTGG	0.672000														30			11		0	0	0.000978	0	0
DBC1	1620	broad.mit.edu	37	9	121971022	121971022	+	Missense_Mutation	SNP	G	A	A	rs112160006		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:121971022G>A	uc004bkc.2	-	6	1576	c.1120C>T	c.(1120-1122)Ccc>Tcc	p.P374S		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	374					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TGGTGGTTGGGATTGTGGCGA	0.562000														17			13		0	0	0.004007	0	0
DLGAP1	9229	broad.mit.edu	37	18	3534325	3534325	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:3534325C>T	uc002kmf.3	-	9	2873	c.2346G>A	c.(2344-2346)gaG>gaA	p.E782E	DLGAP1_uc010wyz.2_Silent_p.E782E|DLGAP1_uc010dkn.3_Silent_p.E490E|DLGAP1_uc002kme.2_Silent_p.E480E|DLGAP1_uc010wyw.2_Silent_p.E488E|DLGAP1_uc010wyx.2_Silent_p.E504E|DLGAP1_uc010wyy.2_Silent_p.E466E|DLGAP1_uc002kmg.3_Silent_p.E480E	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	782					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TTTGCACGGCCTCCAGAGGGT	0.582000														17			11		0	0	0.008291	0	0
JPH4	84502	broad.mit.edu	37	14	24040243	24040243	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:24040243G>A	uc001wkq.2	-	5	2615	c.1697C>T	c.(1696-1698)cCc>cTc	p.P566L	AP1G2_uc001wkl.2_5'Flank|AP1G2_uc001wkn.2_5'Flank|AP1G2_uc010tnp.1_5'Flank|AP1G2_uc010akt.3_5'Flank|JPH4_uc010tnr.1_Missense_Mutation_p.P231L|JPH4_uc001wkr.2_Missense_Mutation_p.P566L	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	Homo sapiens junctophilin 4 (JPH4), transcript variant 1, mRNA.	566					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		p.P566P(1)		endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CATGGCGATGGGCTCAGGCTC	0.682000														32			15		0	0	0.002450	0	0
NCOR1	9611	broad.mit.edu	37	17	16068451	16068451	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:16068451C>T	uc002gpo.3	-	4	729	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	NCOR1_uc002gpn.3_Missense_Mutation_p.E154K|NCOR1_uc002gpp.1_Missense_Mutation_p.E45K|NCOR1_uc002gpr.3_Missense_Mutation_p.E45K|NCOR1_uc002gps.2_Missense_Mutation_p.E154K|NCOR1_uc010cpb.2_Missense_Mutation_p.E154K|NCOR1_uc010coz.2_5'UTR|NCOR1_uc010cpa.2_Missense_Mutation_p.E154K|NCOR1_uc002gpu.3_Missense_Mutation_p.E154K	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	154	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	p.H153H(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GATGGAGCTTCATGTTTGCCT	0.388000														162			18		0	0	0.002299	0	0
CD180	4064	broad.mit.edu	37	5	66480226	66480226	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:66480226C>T	uc003juy.2	-	2	593	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K		NM_005582	NP_005573	Q99467	CD180_HUMAN	Homo sapiens CD180 molecule (CD180), mRNA.	149					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TCCAAGTTTTCCAGATTGTGC	0.418000														94			48		0	0	0.003610	0	0
SMURF2	64750	broad.mit.edu	37	17	62568040	62568040	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:62568040G>A	uc002jep.1	-	9	1280	c.892C>T	c.(892-894)Cca>Tca	p.P298S	SMURF2_uc002jeq.1_Missense_Mutation_p.P57S|SMURF2_uc002jer.1_Missense_Mutation_p.P57S	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	Homo sapiens SMAD specific E3 ubiquitin protein ligase 2 (SMURF2), mRNA.	298	WW 3.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	SMAD binding|identical protein binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			GGAGGCAATGGACCAAGCTCT	0.418000														30			9		0	0	0.008291	0	0
NCAN	1463	broad.mit.edu	37	19	19338458	19338458	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:19338458G>A	uc002nlz.3	+	7	2128	c.2029G>A	c.(2029-2031)Gtg>Atg	p.V677M	NCAN_uc010ecc.1_Missense_Mutation_p.V241M	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	677					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			AGAGACCAAGGTGTATTCCCT	0.617000														82			40		0	0	0.006999	0	0
CEP250	11190	broad.mit.edu	37	20	34091040	34091040	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:34091040G>A	uc021wco.1	+	29	5490	c.4843G>A	c.(4843-4845)Gag>Aag	p.E1615K	CEP250_uc010zve.2_Missense_Mutation_p.E983K	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	1615	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CCATGACCTGGAGAGCCACAG	0.577000														30			31		0	0	0.009535	0	0
LILRB4	11006	broad.mit.edu	37	19	55178186	55178186	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:55178186G>A	uc002qgp.3	+	9	1389	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	LILRB4_uc002qgq.3_Missense_Mutation_p.E343K|LILRB4_uc010ert.3_Missense_Mutation_p.E385K|LILRB4_uc010eru.3_Missense_Mutation_p.E373K	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	343						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GGACGGGGTGGAAATGGACAC	0.617000														53			18		0	0	0.002299	0	0
TTC6	319089	broad.mit.edu	37	14	38310788	38310788	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:38310788C>T	uc001wuj.3	+	12	1729	c.1627C>T	c.(1627-1629)Ccc>Tcc	p.P543S	TTC6_uc001wug.3_Intron|TTC6_uc001wuh.3_Missense_Mutation_p.P446S|TTC6_uc001wui.3_Non-coding_Transcript					SubName: Full=TTC6 protein;											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		TGAAAGCTGTCCCTTTTGGGC	0.313000														23			7		0	0	0.001984	0	0
CRYGD	1421	broad.mit.edu	37	2	208986442	208986442	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:208986442C>T	uc002vcn.4	-	2	596	c.480G>A	c.(478-480)acG>acA	p.T160T	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Silent_p.T160T	NM_006891	NP_008822	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma D (CRYGD), mRNA.	160	Beta/gamma crystallin 'Greek key' 4.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		CTCTGGCATTCGTGGCCCCCC	0.498000														39			12		0	0	0.001368	0	0
LAMB1	3912	broad.mit.edu	37	7	107603371	107603371	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:107603371G>A	uc003vev.2	-	12	2069	c.1908C>T	c.(1906-1908)atC>atT	p.I636I	LAMB1_uc003vew.2_Silent_p.I612I|LAMB1_uc003vex.3_Silent_p.I612I|LAMB1_uc010ljn.1_Silent_p.I698I	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	612	Laminin IV type B.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCGAATTAGGATGTCGTACT	0.468000														42			118		0	0	0.003610	0	0
ITPR2	3709	broad.mit.edu	37	12	26784916	26784916	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:26784916G>A	uc001rhg.3	-	21	3234	c.2817C>T	c.(2815-2817)ttC>ttT	p.F939F		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	939					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CGCTCATGGGGAAGATGGAGC	0.547000														115			37		0	0	0.009718	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955550	18955550	+	Missense_Mutation	SNP	G	A	A	rs150108666		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:18955550G>A	uc001mpg.3	-	0	1000	c.782C>T	c.(781-783)tCc>tTc	p.S261F		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	261					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						GTTAAGAGCGGACAGGAAAAT	0.463000														43			14		0	0	0.004007	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49667782	49667782	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:49667782G>A	uc001jgu.3	-	4	949	c.652C>T	c.(652-654)Ctg>Ttg	p.L218L	ARHGAP22_uc001jgs.3_Silent_p.L112L|ARHGAP22_uc001jgt.3_Silent_p.L202L|ARHGAP22_uc010qgl.2_Silent_p.L159L|ARHGAP22_uc010qgm.2_Silent_p.L208L|ARHGAP22_uc001jgv.3_5'UTR	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	202	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCCTCACCAGGTTGGCCTGG	0.632000														66			59		0	0	0.003610	0	0
ERC2	26059	broad.mit.edu	37	3	56468846	56468846	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:56468846G>A	uc021wzo.1	-	0	330	c.190C>T	c.(190-192)Ctg>Ttg	p.L64L	ERC2_uc003dhr.1_Silent_p.L64L	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	64						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGATCACTCAGATACATGGGT	0.512000														105			42		0	0	0.009718	0	0
SLIT2	9353	broad.mit.edu	37	4	20618763	20618763	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:20618763G>A	uc003gpr.1	+	34	4282	c.4078G>A	c.(4078-4080)Gaa>Aaa	p.E1360K	SLIT2_uc003gps.1_Missense_Mutation_p.E1352K	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1360	EGF-like 7.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CGAGTGCCAGGAAGGATGGAT	0.572000														37			22		0	0	0.003330	0	0
HIVEP1	3096	broad.mit.edu	37	6	12161804	12161804	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:12161804C>T	uc003nac.3	+	7	6799	c.6620C>T	c.(6619-6621)cCc>cTc	p.P2207L	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	2207					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCAGCCACACCCTCAGTCACA	0.507000														34			17		0	0	0.004990	0	0
TINAG	27283	broad.mit.edu	37	6	54212204	54212204	+	Missense_Mutation	SNP	G	A	A	rs75755871	by1000genomes	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:54212204G>A	uc003pcj.2	+	5	934	c.788G>A	c.(787-789)cGa>cAa	p.R263Q	TINAG_uc010jzt.2_Intron	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	263					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TCTAAGGGTCGATACACGGCC	0.423000														38			22		0	0	0.002780	0	0
UBR1	197131	broad.mit.edu	37	15	43269040	43269040	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:43269040G>A	uc001zqq.3	-	38	4310	c.4244C>T	c.(4243-4245)tCc>tTc	p.S1415F		NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	1415					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CCAATACAAGGATGGGAATGC	0.383000														13			6		0	0	0.001984	0	0
PLCL1	5334	broad.mit.edu	37	2	198949057	198949057	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:198949057C>T	uc010fsp.3	+	1	1214	c.816C>T	c.(814-816)aaC>aaT	p.N272N	PLCL1_uc002uuv.4_Silent_p.N193N	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	272					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AACAACTCAACCCTACTCTGA	0.418000														66			27		0	0	0.006320	0	0
RYR2	6262	broad.mit.edu	37	1	237870339	237870339	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:237870339C>T	uc001hyl.1	+	67	9791	c.9671C>T	c.(9670-9672)tCc>tTc	p.S3224F	RYR2_uc010pxz.1_Missense_Mutation_p.S179F	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3224					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTAGCCGAGTCCGGCATTCGC	0.468000														98			30		0	0	0.002445	0	0
OR5D16	390144	broad.mit.edu	37	11	55606440	55606440	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:55606440G>A	uc010rio.2	+	0	213	c.213G>A	c.(211-213)gtG>gtA	p.V71V		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TCTCCTTTGTGGATTTCTGCT	0.413000														93			48		0	0	0.003610	0	0
PRSS42	339906	broad.mit.edu	37	3	46873503	46873503	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:46873503G>A	uc011bap.2	-	3	655	c.655C>T	c.(655-657)Ctt>Ttt	p.L219F	PRSS42_uc003cqj.3_Intron	NM_182702	NP_874361	Q7Z5A4	PRS42_HUMAN	Homo sapiens protease, serine, 42 (PRSS42), mRNA.	219	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						ACATCCTGAAGAATTTCTGAT	0.413000														32			14		0	0	0.002450	0	0
NYAP1	222950	broad.mit.edu	37	7	100087196	100087196	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:100087196G>A	uc003uvd.1	+	3	2011	c.1852G>A	c.(1852-1854)Gaa>Aaa	p.E618K	NYAP1_uc003uve.1_Missense_Mutation_p.E400K	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	618	Poly-Glu.																ACCAGAGGAGGAAGAAGAGGA	0.607000														28			72		0	0	0.003610	0	0
FLNA	2316	broad.mit.edu	37	X	153577854	153577854	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:153577854G>A	uc004fkk.2	-	46	7881	c.7632C>T	c.(7630-7632)gcC>gcT	p.A2544A	FLNA_uc011mzn.1_Silent_p.A677A|FLNA_uc010nuu.1_Silent_p.A2536A	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	2544	Hinge 2.|Self-association site, tail.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATGCTGGGGGGCACAGGTGG	0.652000														23			29		0	0	0.008361	0	0
TET3	200424	broad.mit.edu	37	2	74274486	74274486	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:74274486C>T	uc002skb.4	+	0	1037	c.1037C>T	c.(1036-1038)cCt>cTt	p.P346L	TET3_uc010fez.2_Missense_Mutation_p.P346L	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	346							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						TTCAAGCGGCCTGAGGCCCTG	0.642000														27			12		0	0	0.000978	0	0
EVX2	344191	broad.mit.edu	37	2	176948093	176948093	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:176948093C>T	uc010zeu.2	-	0	598	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	Homo sapiens even-skipped homeobox 2 (EVX2), mRNA.	138						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CCATTGTTTTCCTTAAGCTGA	0.677000														9			3		0	0	0.009096	0	0
CDH10	1008	broad.mit.edu	37	5	24491745	24491745	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:24491745G>A	uc003jgr.2	-	10	2322	c.1816C>T	c.(1816-1818)Cct>Tct	p.P606S	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	606	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		AGGCCGGCAGGGAGGAGCAGG	0.527000										HNSCC(23;0.051)				73			24		0	0	0.004656	0	0
TBC1D3	729873	broad.mit.edu	37	17	36288204	36288204	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:36288204G>A	uc010wdk.1	+	4	474	c.473G>A	c.(472-474)cGa>cAa	p.R158Q	TBC1D3_uc002hoo.2_Missense_Mutation_p.R97Q|TBC1D3_uc002hop.2_Non-coding_Transcript|TBC1D3_uc010wdj.1_Missense_Mutation_p.R17Q|TBC1D3_uc010cvf.1_Missense_Mutation_p.R97Q|TBC1D3_uc002hoq.2_Missense_Mutation_p.R97Q|DQ586040_uc002hpl.3_5'Flank|DQ587906_uc002hor.3_5'Flank|DQ585853_uc021tvy.1_5'Flank	NM_032258	NP_115634	Q8IZP1	TBC3A_HUMAN	Homo sapiens TBC1 domain family, member 3F (TBC1D3F), mRNA.	97	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.R97Q(1)|p.R97L(1)		breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTCATAGATCGAGCGTACAAG	0.547000														674			29		0	0	0.004289	0	0
MYO15A	51168	broad.mit.edu	37	17	18034824	18034824	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:18034824G>A	uc021trm.1	+	8	4404	c.4185G>A	c.(4183-4185)gaG>gaA	p.E1395E	MYO15A_uc021trl.1_Silent_p.E1393E	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1395	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACCTGCTTGAGAAATCCAGGA	0.627000														16			12		0	0	0.001855	0	0
CLTC	1213	broad.mit.edu	37	17	57761064	57761064	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:57761064A>G	uc002ixr.1	+	26	4725	c.4282A>G	c.(4282-4284)Atg>Gtg	p.M1428V	CLTC_uc002ixp.3_Missense_Mutation_p.M1424V|CLTC_uc002ixq.1_Missense_Mutation_p.M1424V	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	1424	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGATTTGCTGATGGTGCTGTC	0.383000			T	"""ALK, TFE3"""	"""ALCL, renal """									46			16		0	0	0.003163	0	0
WDR96	80217	broad.mit.edu	37	10	105920862	105920862	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:105920862C>T	uc001kxw.3	-	26	3589	c.3473G>A	c.(3472-3474)aGa>aAa	p.R1158K	WDR96_uc009xxq.3_Missense_Mutation_p.R466K	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	1158								p.E1157K(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GAATTGTTTTCTTTCTTCTTC	0.328000														12			17		0	0	0.004990	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837224	12837224	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:12837224C>T	uc001aui.3	+	2	961	c.934C>T	c.(934-936)Ctc>Ttc	p.L312F		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	312										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGAAGCATCTCTCTTGGTG	0.557000														105			51		0	0	0.003610	0	0
MYEF2	50804	broad.mit.edu	37	15	48451901	48451901	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:48451901G>A	uc001zwi.4	-	5	750	c.626C>T	c.(625-627)cCa>cTa	p.P209L	MYEF2_uc001zwj.4_Missense_Mutation_p.P209L|MYEF2_uc001zwl.3_Missense_Mutation_p.P49L	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	Homo sapiens myelin expression factor 2 (MYEF2), mRNA.	209					transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|RNA binding|nucleotide binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TATGGAAGGTGGTAAATTCAT	0.448000														38			17		0	0	0.004990	0	0
CSMD1	64478	broad.mit.edu	37	8	3443732	3443732	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:3443732C>T	uc022aqr.1	-	8	1538	c.1148G>A	c.(1147-1149)gGa>gAa	p.G383E		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	384	Sushi 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTTTTAGATCCCTGGAGCAC	0.463000														25			8		0	0	0.003080	0	0
PTCRA	171558	broad.mit.edu	37	6	42890984	42890984	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:42890984C>T	uc021yzp.1	+	1	359	c.278C>T	c.(277-279)tCc>tTc	p.S93F	PTCRA_uc011duz.1_Missense_Mutation_p.P104S|PTCRA_uc010jxx.1_Missense_Mutation_p.P54S|PTCRA_uc010jxy.3_Missense_Mutation_p.S68F|PTCRA_uc003osx.3_Missense_Mutation_p.S93F|PTCRA_uc010jxz.3_Intron	NM_001243168	NP_001230097	Q6ISU1	PTCRA_HUMAN	Homo sapiens pre T-cell antigen receptor alpha (PTCRA), transcript variant 1, mRNA.	93						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			GCCCATCTCTCCCTGCCTTCT	0.612000														73			38		0	0	0.004289	0	0
CCDC57	284001	broad.mit.edu	37	17	80159600	80159600	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:80159600T>C	uc002kdx.1	-	1	258	c.221A>G	c.(220-222)tAt>tGt	p.Y74C	CCDC57_uc002kdz.1_Missense_Mutation_p.Y74C	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	Homo sapiens coiled-coil domain containing 57 (CCDC57), mRNA.	74										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GGCGGCGTCATAGCGCTCCAG	0.652000														43			11		0	0	0.000978	0	0
JARID2	3720	broad.mit.edu	37	6	15496631	15496631	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:15496631C>T	uc003nbj.3	+	6	1419	c.1175C>T	c.(1174-1176)tCc>tTc	p.S392F	JARID2_uc011diu.1_Missense_Mutation_p.S256F|JARID2_uc011div.2_Missense_Mutation_p.S220F|JARID2_uc011diw.1_Missense_Mutation_p.S354F	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	392					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CAGGTGCTATCCCTCGGGGGG	0.572000														81			28		0	0	0.008361	0	0
TCF23	150921	broad.mit.edu	37	2	27372124	27372124	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:27372124G>C	uc010ylg.2	+	0	180	c.123G>C	c.(121-123)agG>agC	p.R41S		NM_175769	NP_786951	Q7RTU1	TCF23_HUMAN	Homo sapiens transcription factor 23 (TCF23), mRNA.	41					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGGACAAGGCAGGACCCGT	0.662000														6			3		0	0	0.004672	0	0
SALL2	6297	broad.mit.edu	37	14	21991828	21991828	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:21991828G>A	uc001wbe.3	-	1	2316	c.2034C>T	c.(2032-2034)ttC>ttT	p.F678F	SALL2_uc010tly.2_Silent_p.F676F|SALL2_uc010tlz.1_Silent_p.F541F|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Silent_p.F543F|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	678							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TGTGGCCCACGAAATGTGCAC	0.567000														39			14		0	0	0.001855	0	0
BCO2	83875	broad.mit.edu	37	11	112064319	112064319	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:112064319G>A	uc001pnf.3	+	2	533	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	BCO2_uc001pne.1_5'UTR|BCO2_uc001png.3_Missense_Mutation_p.R139Q|BCO2_uc001pnh.3_Missense_Mutation_p.R105Q|BCO2_uc010rwt.2_Missense_Mutation_p.R34Q|BCO2_uc009yyn.3_Missense_Mutation_p.R105Q|BCO2_uc001pni.3_Missense_Mutation_p.R105Q	NM_031938	NP_001032367	Q9BYV7	BCDO2_HUMAN	Homo sapiens beta-carotene oxygenase 2 (BCO2), transcript variant 1, mRNA.	139					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						GCTAAAAACCGAATTGTGATC	0.463000														33			7		0	0	0.001984	0	0
RSPO1	284654	broad.mit.edu	37	1	38082190	38082190	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:38082190G>A	uc001cbl.2	-	4	1144	c.252C>T	c.(250-252)ttC>ttT	p.F84F	RSPO1_uc009vvf.2_Silent_p.F57F|RSPO1_uc001cbm.2_Silent_p.F84F|RSPO1_uc009vvg.2_Silent_p.F84F	NM_001038633	NP_001229837	Q2MKA7	RSPO1_HUMAN	Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA.	84					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	p.F84F(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGCGGGCGTCGAAGTATCCAG	0.617000														51			25		0	0	0.005443	0	0
VANGL2	57216	broad.mit.edu	37	1	160389337	160389337	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:160389337C>T	uc001fwb.2	+	4	1037	c.738C>T	c.(736-738)ttC>ttT	p.F246F	VANGL2_uc001fwc.2_Silent_p.F246F	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	Homo sapiens vang-like 2 (van gogh, Drosophila) (VANGL2), mRNA.	246					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCCTCAGTTCACGCTCAAGG	0.642000														29			18		0	0	0.001882	0	0
PLXNA2	5362	broad.mit.edu	37	1	208390556	208390556	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:208390556G>A	uc001hgz.3	-	1	1470	c.712C>T	c.(712-714)Cac>Tac	p.H238Y	PLXNA2_uc001hha.4_Missense_Mutation_p.H292Y	NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	238	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ATGTCAAAGTGGGAGACCAGG	0.552000														182			41		0	0	0.008740	0	0
KCNF1	3754	broad.mit.edu	37	2	11052667	11052667	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:11052667G>A	uc002rax.3	+	0	605	c.115G>A	c.(115-117)Gac>Aac	p.D39N		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	39						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GCTGTACGGGGACCTCCTCAG	0.662000														23			7		0	0	0.004482	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157523	26157523	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:26157523G>T	uc022bub.1	+	0	421	c.421G>T	c.(421-423)Gat>Tat	p.D141Y	MAGEB18_uc004dbq.2_Missense_Mutation_p.D141Y	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.	141	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						TATCAGGAAGGATAAGTGTCA	0.423000														2			3		0.004672	0.00530869	0.004672	1	0
KIAA1841	84542	broad.mit.edu	37	2	61308628	61308628	+	Silent	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:61308628T>C	uc002saw.4	+	6	1015	c.712T>C	c.(712-714)Tta>Cta	p.L238L	KIAA1841_uc002sax.4_Silent_p.L92L|KIAA1841_uc002say.3_Silent_p.L238L|KIAA1841_uc002sav.4_Silent_p.L238L	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	Homo sapiens KIAA1841 (KIAA1841), transcript variant 1, mRNA.	238										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			TTCGGAGTTTTTAAAAATGGA	0.308000														75			33		0	0	0.003755	0	0
HAUS1	115106	broad.mit.edu	37	18	43702488	43702488	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:43702488C>T	uc002lbu.3	+	4	612	c.532C>T	c.(532-534)Cgt>Tgt	p.R178C	HAUS1_uc002lbv.3_Missense_Mutation_p.R102C	NM_138443	NP_612452	Q96CS2	HAUS1_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 1 (HAUS1), transcript variant 1, mRNA.	178					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						AGTTGATAATCGTCGTCAGAA	0.378000														28			23		0	0	0.002780	0	0
C4orf40	401137	broad.mit.edu	37	4	71024290	71024290	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:71024290G>A	uc003hfa.4	+	3	394	c.321G>A	c.(319-321)agG>agA	p.R107R	C4orf40_uc003hfb.4_Silent_p.R107R	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA.	107						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TCCCTCCTAGGGGTTTCCCGT	0.527000														115			70		0	0	0.003610	0	0
ZNF536	9745	broad.mit.edu	37	19	31039043	31039043	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:31039043G>A	uc002nsu.1	+	3	2655	c.2517G>A	c.(2515-2517)agG>agA	p.R839R	ZNF536_uc010edd.1_Silent_p.R839R	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	839					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.R839S(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACATCCTGAGGGGGGCCTTCA	0.582000														75			38		0	0	0.005524	0	0
WNT9A	7483	broad.mit.edu	37	1	228109363	228109363	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:228109363G>A	uc001hri.2	-	3	1042	c.954C>T	c.(952-954)aaC>aaT	p.N318N		NM_003395	NP_003386	O14904	WNT9A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9A (WNT9A), mRNA.	318					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|extracellular matrix structural constituent|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TGCTCTCGCAGTTCTTCTCAC	0.647000														11			6		0	0	0.001168	0	0
MED25	81857	broad.mit.edu	37	19	50331794	50331794	+	Missense_Mutation	SNP	C	G	G	rs137859678		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:50331794C>G	uc002ppw.2	+	3	457	c.394C>G	c.(394-396)Cgc>Ggc	p.R132G	MED25_uc010ybe.2_Intron|MED25_uc002ppx.1_5'Flank	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	Homo sapiens mediator complex subunit 25 (MED25), mRNA.	132	Interaction with the Mediator complex.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CAAGAAGATGCGCGAGCAGAT	0.622000														59			32		0	0	0.009535	0	0
ANGPT4	51378	broad.mit.edu	37	20	896816	896816	+	Silent	SNP	A	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:896816A>C	uc002wei.3	-	0	145	c.42T>G	c.(40-42)ctT>ctG	p.L14L	ANGPT4_uc010zpn.2_Silent_p.L8L	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	14					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TGGCAACCACAAGGAGGAGGC	0.592000														34			21		0	0	0.002299	0	0
TPMT	7172	broad.mit.edu	37	6	18132364	18132364	+	Splice_Site	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:18132364C>T	uc003ncm.3	-	8	780	c.625_splice	c.e8+1	p.G209_splice		NM_000367	NP_000358	P51580	TPMT_HUMAN	Homo sapiens thiopurine S-methyltransferase (TPMT), mRNA.	209					xenobiotic metabolic process	cytosol	thiopurine S-methyltransferase activity			large_intestine(2)|lung(1)	3	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.146)	all cancers(50;0.06)|Epithelial(50;0.0654)		Mercaptopurine(DB01033)	ACAAACTTACCAAACAACCTT	0.388000														36			11		0	0	0.001368	0	0
KALRN	8997	broad.mit.edu	37	3	124390556	124390556	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:124390556G>A	uc003ehg.3	+	47	6877	c.6750G>A	c.(6748-6750)gtG>gtA	p.V2250V	KALRN_uc003ehi.3_Silent_p.V591V|KALRN_uc003ehk.3_Silent_p.V553V|KALRN_uc011bjz.2_Silent_p.V342V	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2249					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCACAGCTGTGATGAGGTCTC	0.557000														87			50		0	0	0.003610	0	0
UXS1	80146	broad.mit.edu	37	2	106746178	106746178	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:106746178G>A	uc002tdm.3	-	6	612	c.514C>T	c.(514-516)Cct>Tct	p.P172S	UXS1_uc002tdl.3_Missense_Mutation_p.P4S|UXS1_uc002tdn.3_Missense_Mutation_p.P177S|UXS1_uc002tdo.3_Missense_Mutation_p.P115S|UXS1_uc010ywh.2_Intron	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN	Homo sapiens UDP-glucuronate decarboxylase 1 (UXS1), transcript variant 2, mRNA.	172					cellular metabolic process	Golgi cisterna membrane|integral to membrane	UDP-glucuronate decarboxylase activity|coenzyme binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						GTCTTGATAGGATTATACATG	0.378000														21			6		0	0	0.004482	0	0
KCNQ5	56479	broad.mit.edu	37	6	73879567	73879567	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:73879567C>T	uc011dyh.2	+	11	1971	c.1624C>T	c.(1624-1626)Cga>Tga	p.R542*	KCNQ5_uc011dyi.2_Nonsense_Mutation_p.R533*|KCNQ5_uc010kat.3_Nonsense_Mutation_p.R514*|KCNQ5_uc003pgk.3_Nonsense_Mutation_p.R523*|KCNQ5_uc011dyj.2_Intron|KCNQ5_uc011dyk.2_Nonsense_Mutation_p.R273*	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	523					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		AACTGTCATTCGAGCTATCAG	0.393000														26			15		0	0	0.003163	0	0
TTN	7273	broad.mit.edu	37	2	179495906	179495906	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179495906C>T	uc021vsy.1	-	185	36390	c.36165G>A	c.(36163-36165)aaG>aaA	p.K12055K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.K5750K|TTN_uc021vta.1_Silent_p.K5683K|TTN_uc021vtb.1_Silent_p.K5558K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12982	Ig-like 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.N12055D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTTATTTCCTTCCCATCCT	0.373000														42			21		0	0	0.002780	0	0
NPC1	4864	broad.mit.edu	37	18	21137137	21137137	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:21137137G>A	uc002kum.4	-	6	1173	c.899C>T	c.(898-900)tCc>tTc	p.S300F	NPC1_uc010xaz.2_Missense_Mutation_p.S84F|NPC1_uc010xba.1_Missense_Mutation_p.S145F	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	300					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGTGTACTCGGAGACAAAATA	0.383000														14			4		0	0	0.001168	0	0
PDZD2	23037	broad.mit.edu	37	5	32088468	32088468	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:32088468G>A	uc003jhl.3	+	19	5302	c.4914G>A	c.(4912-4914)ccG>ccA	p.P1638P	PDZD2_uc003jhm.3_Silent_p.P1638P	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1638					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACAGCACTCCGAGAGAGTCGG	0.577000														92			44		0	0	0.009718	0	0
BMP3	651	broad.mit.edu	37	4	81967371	81967371	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:81967371C>T	uc003hmg.4	+	1	1116	c.796C>T	c.(796-798)Ccc>Tcc	p.P266S		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	266					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CCGGAATTTTCCCACTGGAAC	0.498000														67			12		0	0	0.000978	0	0
PXDNL	137902	broad.mit.edu	37	8	52321488	52321489	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:52321488_52321489AC>TT	uc003xqu.4	-	16	2796_2797	c.2695_2696GT>AA	c.(2695-2697)gtt>AAt	p.V899N	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	899					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)				GCTCCCGTAAACGTTGGAGCCA	0.624000														49			18		0	0	0.004672	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222087	140222087	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140222087C>T	uc003lhs.2	+	0	1181	c.1181C>T	c.(1180-1182)cCc>cTc	p.P394L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.P394L	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	409	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCATGTCCCCTTCAAGCTG	0.567000														140			55		0	0	0.003610	0	0
ABCC9	10060	broad.mit.edu	37	12	22059214	22059214	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:22059214G>A	uc001rfh.3	-	9	1484	c.1464C>T	c.(1462-1464)tcC>tcT	p.S488S	ABCC9_uc001rfi.1_Silent_p.S488S	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	488	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GTCTCTCAGTGGAATAATCCT	0.373000														21			8		0	0	0.003080	0	0
CLNK	116449	broad.mit.edu	37	4	10509591	10509591	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:10509591C>T	uc003gmo.4	-	16	1113	c.976G>A	c.(976-978)Gag>Aag	p.E326K		NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN	Homo sapiens cytokine-dependent hematopoietic cell linker (CLNK), mRNA.	326	SH2.				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						ACCTTGTTCTCCTTCATGAAT	0.423000														9			4		0	0	0.009096	0	0
POLR2B	5431	broad.mit.edu	37	4	57883317	57883317	+	Silent	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:57883317T>C	uc003hcl.1	+	14	2107	c.2064T>C	c.(2062-2064)gcT>gcC	p.A688A	POLR2B_uc011cae.1_Silent_p.A681A|POLR2B_uc011caf.1_Silent_p.A613A|POLR2B_uc003hcm.1_Silent_p.A181A	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	688					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AAGAAGTAGCTTATTGTTCCA	0.418000														81			74		0	0	0.003610	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529823	5529823	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:5529823C>T	uc021qcw.1	-	0	966	c.966G>A	c.(964-966)ggG>ggA	p.G322G	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Silent_p.G322G	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	322								p.G322W(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCCTGATCCCCATCCTGCC	0.512000														38			23		0	0	0.001882	0	0
UBE2N	7334	broad.mit.edu	37	12	93804628	93804628	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:93804628C>T	uc001tcp.3	-	2	666	c.300G>A	c.(298-300)caG>caA	p.Q100Q		NM_003348	NP_003339	P61088	UBE2N_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2N (UBE2N), mRNA.	100					DNA double-strand break processing|MyD88-dependent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|double-strand break repair via homologous recombination|histone ubiquitination|innate immune response|positive regulation of DNA repair|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of histone modification|positive regulation of ubiquitin-protein ligase activity|postreplication repair|protein K63-linked ubiquitination|proteolysis|regulation of histone ubiquitination|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	UBC13-MMS2 complex|UBC13-UEV1A complex|cytosol|nucleus|ubiquitin ligase complex	ATP binding|ubiquitin binding|ubiquitin-protein ligase activity			endometrium(3)|liver(2)|lung(5)	10						CTGTGCGGATCTGCAGTGCTG	0.498000								Direct reversal of damage;Rad6 pathway						47			22		0	0	0.002299	0	0
WDR81	124997	broad.mit.edu	37	17	1637434	1637434	+	Silent	SNP	C	T	T	rs150462855	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:1637434C>T	uc002ftj.2	+	6	5232	c.5103C>T	c.(5101-5103)ttC>ttT	p.F1701F	WDR81_uc002fth.2_Silent_p.F650F|WDR81_uc010vqp.1_Silent_p.F498F|WDR81_uc002fti.2_Silent_p.F474F|WDR81_uc010vqq.1_Silent_p.F332F	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	474										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGAGCGTCTTCTTCGTGGGCC	0.677000														17			19		0	0	0.010504	0	0
GPR158	57512	broad.mit.edu	37	10	25701188	25701188	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:25701188C>T	uc001isj.3	+	3	1181	c.1121C>T	c.(1120-1122)cCg>cTg	p.P374L		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	374						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGAAGGGGTCCGGATCAGCAT	0.468000														91			35		0	0	0.004289	0	0
TRPM2	7226	broad.mit.edu	37	21	45795894	45795894	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:45795894G>A	uc010gpt.1	+	5	1050	c.950G>A	c.(949-951)gGa>gAa	p.G317E	TRPM2_uc002zet.1_Missense_Mutation_p.G317E|TRPM2_uc002zeu.1_Missense_Mutation_p.G317E|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.G317E|TRPM2_uc002zex.1_Missense_Mutation_p.G103E	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	317						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						AAGGAAAGAGGAGGTAGGGGA	0.587000														35			20		0	0	0.010504	0	0
C2orf78	388960	broad.mit.edu	37	2	74043122	74043122	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:74043122G>A	uc002sjr.1	+	2	1893	c.1772G>A	c.(1771-1773)gGg>gAg	p.G591E		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	591	Lys-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						AAGCAGTCAGGGAAAAAAGTC	0.443000														24			10		0	0	0.008291	0	0
TGM6	343641	broad.mit.edu	37	20	2380241	2380241	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:2380241G>A	uc002wfy.1	+	5	768	c.707G>A	c.(706-708)gGa>gAa	p.G236E	TGM6_uc010gal.1_Missense_Mutation_p.G236E	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	236					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GTGGTGCAAGGACAGTGGCAG	0.642000														65			21		0	0	0.006320	0	0
CTIF	9811	broad.mit.edu	37	18	46284741	46284741	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:46284741T>A	uc002ldd.3	+	8	1395	c.1036T>A	c.(1036-1038)Tcc>Acc	p.S346T	CTIF_uc002ldc.3_Missense_Mutation_p.S346T|CTIF_uc002lde.4_5'Flank	NM_001142397	NP_001135869	O43310	CTIF_HUMAN	Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA.	346					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GCTCCAGTCTTCCAAAGACAG	0.522000														195			111		0	0	0.003610	0	0
SPOCD1	90853	broad.mit.edu	37	1	32264057	32264057	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:32264057C>T	uc001bts.1	-	7	2072	c.2014G>A	c.(2014-2016)Gac>Aac	p.D672N	SPOCD1_uc001btu.3_Missense_Mutation_p.D672N|SPOCD1_uc001btv.3_Missense_Mutation_p.D165N|SPOCD1_uc021oks.1_5'UTR|SPOCD1_uc001btw.1_5'UTR	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	672	TFIIS central.				transcription, DNA-dependent			p.R671W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TTCCTGGGGTCCCGCAGGTTG	0.622000														39			25		0	0	0.005443	0	0
PCDH19	57526	broad.mit.edu	37	X	99551530	99551530	+	Silent	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:99551530A>G	uc010nmz.3	-	5	4868	c.3192T>C	c.(3190-3192)ccT>ccC	p.P1064P	PCDH19_uc004efw.4_Silent_p.P1016P|PCDH19_uc004efx.4_Silent_p.P1017P	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	1064					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GGGAGGTGACAGGGCTAATCG	0.597000														7			11		0	0	0.008291	0	0
DUSP14	11072	broad.mit.edu	37	17	35872918	35872918	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:35872918C>T	uc002hnx.2	+	2	838	c.544C>T	c.(544-546)Ccc>Tcc	p.P182S	DUSP14_uc002hnz.2_Missense_Mutation_p.P169S|DUSP14_uc021tvt.1_Missense_Mutation_p.P182S	NM_007026	NP_008957	O95147	DUS14_HUMAN	Homo sapiens dual specificity phosphatase 14 (DUSP14), mRNA.	182							MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				TGGCATAGTTCCCGACGTCTA	0.562000														47			25		0	0	0.003330	0	0
TTN	7273	broad.mit.edu	37	2	179664322	179664322	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179664322G>A	uc021vsy.1	-	5	1031	c.806C>T	c.(805-807)cCg>cTg	p.P269L	TTN_uc021vsz.1_Missense_Mutation_p.P269L|TTN_uc021vta.1_Missense_Mutation_p.P269L|TTN_uc021vtb.1_Missense_Mutation_p.P269L|TTN_uc002unb.2_Missense_Mutation_p.P269L|TTN_uc002und.3_Missense_Mutation_p.P269L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	269	ZIS1.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCAATAGACGGTGGTGTTGG	0.582000														58			26		0	0	0.004656	0	0
SEC16B	89866	broad.mit.edu	37	1	177935080	177935080	+	Silent	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:177935080A>G	uc001glj.1	-	7	1226	c.360T>C	c.(358-360)gcT>gcC	p.A120A	SEC16B_uc001glk.1_5'UTR|SEC16B_uc001gli.1_Silent_p.A120A|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001gll.4_Silent_p.A120A	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	120	Required for endoplasmic reticulum localization.|Tyr-rich.				protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						AACTTCCATAAGCATATTCCT	0.458000														9			4		0	0	0.009096	0	0
PACSIN1	29993	broad.mit.edu	37	6	34496492	34496492	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:34496492C>T	uc003ojo.3	+	3	552	c.294C>T	c.(292-294)caC>caT	p.H98H	PACSIN1_uc003ojp.3_Silent_p.H98H	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 1 (PACSIN1), transcript variant 1, mRNA.	98					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GCGAGCTGCACCAGGAGGTGA	0.552000														114			58		0	0	0.003610	0	0
NWD1	284434	broad.mit.edu	37	19	16918651	16918651	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:16918651G>T	uc002neu.4	+	17	4413	c.3991G>T	c.(3991-3993)Gac>Tac	p.D1331Y	NWD1_uc002net.4_Missense_Mutation_p.D1196Y|NWD1_uc002nev.4_Missense_Mutation_p.D1125Y|NWD1_uc021uqg.1_Missense_Mutation_p.D1196Y	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1331							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CACCTCCGGGGACCCCTGCCC	0.607000														52			26		7.26314e-15	8.33475e-15	0.007291	1	0
MAGEB18	286514	broad.mit.edu	37	X	26157478	26157478	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:26157478G>A	uc022bub.1	+	0	376	c.376G>A	c.(376-378)Gag>Aag	p.E126K	MAGEB18_uc004dbq.2_Missense_Mutation_p.E126K	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.	126	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						TGAAACGAAAGAGCCAATTAC	0.433000														3			5		0	0	0.000602	0	0
MTMR3	8897	broad.mit.edu	37	22	30416768	30416768	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:30416768G>A	uc003agv.4	+	16	3448	c.3120G>A	c.(3118-3120)caG>caA	p.Q1040Q	MTMR3_uc003agu.4_Silent_p.Q1040Q|MTMR3_uc003agw.4_Silent_p.Q1040Q	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	1040					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GCCACCAGCAGGAAGTAGAAA	0.547000														29			11		0	0	0.000978	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679778	160679778	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:160679778G>A	uc003qtf.3	-	0	186	c.12C>T	c.(10-12)acC>acT	p.T4T	SLC22A2_uc003qth.2_Silent_p.T4T	NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	4					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CATCGTCCACGGTGGTGGGCA	0.622000														33			8		0	0	0.004482	0	0
SPATS1	221409	broad.mit.edu	37	6	44328265	44328265	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:44328265G>A	uc021yzz.1	+	3	471	c.370G>A	c.(370-372)Gat>Aat	p.D124N	TMEM151B_uc003oxg.3_Non-coding_Transcript|SPATS1_uc010jzb.3_Missense_Mutation_p.D9N|SPATS1_uc003oxk.3_Missense_Mutation_p.D124N	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 1 (SPATS1), mRNA.	124										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGTCCAAAAGGATAAATATCC	0.478000														61			23		0	0	0.003330	0	0
OR6N2	81442	broad.mit.edu	37	1	158746626	158746626	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:158746626G>A	uc010pir.2	-	0	800	c.800C>T	c.(799-801)tCc>tTc	p.S267F		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					AAGGGTCAGGGAATAGCTCTT	0.428000														44			8		0	0	0.004482	0	0
FTSJD2	23070	broad.mit.edu	37	6	37426561	37426561	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:37426561C>T	uc003ons.3	+	8	1204	c.951C>T	c.(949-951)tcC>tcT	p.S317S	FTSJD2_uc010jwu.2_Silent_p.S261S	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA.	317					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						ACTCTGCTTCCAGTGAACTCT	0.507000														56			30		0	0	0.003271	0	0
NLRP4	147945	broad.mit.edu	37	19	56370281	56370281	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:56370281A>T	uc002qmd.4	+	2	1944	c.1522A>T	c.(1522-1524)Aat>Tat	p.N508Y	NLRP4_uc002qmf.3_Missense_Mutation_p.N433Y|NLRP4_uc010etf.3_Missense_Mutation_p.N339Y	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	508							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGGCCTTTTAAATAAAAAGGA	0.423000														55			32		0	0	0.002836	0	0
CBFA2T3	863	broad.mit.edu	37	16	88947895	88947895	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:88947895G>A	uc002fmm.2	-	8	1495	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L	CBFA2T3_uc002fml.2_Silent_p.L316L|CBFA2T3_uc010cif.1_Silent_p.L341L|CBFA2T3_uc002fmk.2_5'Flank	NM_005187	NP_005178	O75081	MTG16_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.	402	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		TGCAGTTCAGGAGCTGGGGGC	0.701000			T	RUNX1	AML									10			12		0	0	0.001855	0	0
GSTM5	2949	broad.mit.edu	37	1	110257571	110257571	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:110257571G>A	uc001dyn.3	+	5	434	c.363G>A	c.(361-363)gaG>gaA	p.E121E	GSTM5_uc010ovu.1_Silent_p.E80E	NM_000851	NP_000842	P46439	GSTM5_HUMAN	Homo sapiens glutathione S-transferase mu 5 (GSTM5), mRNA.	121	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TGCCTCAGGAGAAACTGAAGC	0.542000														35			25		0	0	0.003330	0	0
SERPINC1	462	broad.mit.edu	37	1	173883957	173883957	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:173883957G>A	uc001gjt.3	-	1	261	c.142C>T	c.(142-144)Ccc>Tcc	p.P48S		NM_000488	NP_000479	P01008	ANT3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), mRNA.	48					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	GGATTCATGGGAATGTCCCGC	0.572000											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		105			28		0	0	0.007291	0	0
SRGAP1	57522	broad.mit.edu	37	12	64488754	64488754	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:64488754C>T	uc010ssp.1	+	12	1638	c.1582C>T	c.(1582-1584)Cgg>Tgg	p.R528W	SRGAP1_uc001srv.2_Missense_Mutation_p.R465W	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	528	Rho-GAP.				axon guidance	cytosol		p.R528W(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AAGCTGTATTCGGTTCATCAA	0.383000														80			42		0	0	0.002852	0	0
TRPM2	7226	broad.mit.edu	37	21	45821766	45821766	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:45821766G>A	uc010gpt.1	+	15	2624	c.2524G>A	c.(2524-2526)Gag>Aag	p.E842K	TRPM2_uc002zet.1_Missense_Mutation_p.E842K|TRPM2_uc002zeu.1_Missense_Mutation_p.E842K|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.E842K|TRPM2_uc002zex.1_Missense_Mutation_p.E628K|TRPM2_uc002zey.1_Missense_Mutation_p.E355K	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	842						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						CTTGGTGTGCGAGGAGATGCG	0.627000														113			70		0	0	0.003610	0	0
PLA2G7	7941	broad.mit.edu	37	6	46677145	46677145	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:46677145T>A	uc010jzf.3	-	8	1057	c.788A>T	c.(787-789)gAt>gTt	p.D263V	PLA2G7_uc021zae.1_Missense_Mutation_p.D263V	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Homo sapiens phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) (PLA2G7), transcript variant 1, mRNA.	263					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TTTTTCCCTATCAATAGAGTC	0.313000														46			30		0	0	0.005524	0	0
SDC1	6382	broad.mit.edu	37	2	20403772	20403773	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:20403772_20403773GG>AA	uc002rdo.1	-	2	727_728	c.428_429CC>TT	c.(427-429)acc>aTT	p.T143I	SDC1_uc002rdp.1_Missense_Mutation_p.T143I|SDC1_uc010exv.3_Missense_Mutation_p.T143I|SDC1_uc010exw.1_Non-coding_Transcript	NM_002997	NP_002988	P18827	SDC1_HUMAN	Homo sapiens syndecan 1 (SDC1), transcript variant 2, mRNA.	143					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CCTGGGCCGTGGTGGCTGTGGT	0.688000														84			30		0	0	0.004672	0	0
GPC3	2719	broad.mit.edu	37	X	132826495	132826495	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:132826495G>A	uc010nrn.2	-	5	1460	c.1263C>T	c.(1261-1263)ttC>ttT	p.F421F	GPC3_uc004exe.2_Silent_p.F398F|GPC3_uc011mvh.2_Silent_p.F382F|GPC3_uc010nro.2_Silent_p.F344F|GPC3_uc010nrp.2_Silent_p.F270F	NM_001164617	NP_001158089	P51654	GPC3_HUMAN	Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.	398						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					AGAAGCTGATGAAAGACTTCA	0.418000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome					17			18		0	0	0.001882	0	0
TRRAP	8295	broad.mit.edu	37	7	98565207	98565207	+	Silent	SNP	C	T	T	rs139721649		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:98565207C>T	uc003upp.3	+	49	7586	c.7377C>T	c.(7375-7377)ttC>ttT	p.F2459F	TRRAP_uc011kis.2_Silent_p.F2441F|TRRAP_uc003upr.3_Silent_p.F2158F	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2459					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.F2441F(2)|p.F2459F(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAAAGTTTTTCGAGGTTTTTG	0.552000														32			72		0	0	0.003610	0	0
SPOCK3	50859	broad.mit.edu	37	4	167658649	167658649	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:167658649C>T	uc011cjq.1	-	8	1194	c.1137G>A	c.(1135-1137)atG>atA	p.M379I	SPOCK3_uc021xuf.1_Missense_Mutation_p.M370I|SPOCK3_uc011cjr.1_Missense_Mutation_p.M250I|SPOCK3_uc003iri.1_Missense_Mutation_p.M370I|SPOCK3_uc011cjs.1_Missense_Mutation_p.M319I|SPOCK3_uc003irj.1_Missense_Mutation_p.M367I|SPOCK3_uc011cjt.1_Missense_Mutation_p.M278I|SPOCK3_uc011cjp.2_Missense_Mutation_p.M327I|SPOCK3_uc011cju.1_Missense_Mutation_p.M274I|SPOCK3_uc011cjv.1_Missense_Mutation_p.M272I	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	370	Thyroglobulin type-1.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TTCTGGATCCCATGACTTCAT	0.403000														84			26		0	0	0.008361	0	0
DNAH5	1767	broad.mit.edu	37	5	13811790	13811790	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:13811790C>T	uc003jfd.2	-	43	7415	c.7373G>A	c.(7372-7374)aGc>aAc	p.S2458N		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2458					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CATGTTAATGCTCTGTGTGAT	0.443000									Kartagener syndrome					40			26		0	0	0.009535	0	0
FANCI	55215	broad.mit.edu	37	15	89843548	89843548	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:89843548G>A	uc010bnp.1	+	25	2911	c.2821G>A	c.(2821-2823)Gga>Aga	p.G941R	FANCI_uc002bnm.1_Missense_Mutation_p.G881R|FANCI_uc002bnn.1_Non-coding_Transcript|FANCI_uc002bnp.1_Missense_Mutation_p.G702R|FANCI_uc002bnq.1_Missense_Mutation_p.G354R	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA.	941					DNA repair|cell cycle	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGATAAGGAAGGAGAAGAGAG	0.408000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					35			31		0	0	0.003271	0	0
CDH4	1002	broad.mit.edu	37	20	60348170	60348170	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:60348170G>A	uc002ybn.2	+	3	596	c.508G>A	c.(508-510)Gac>Aac	p.D170N	CDH4_uc002ybr.2_Missense_Mutation_p.D133N|CDH4_uc002ybp.2_Missense_Mutation_p.D96N	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	170	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCGCAAACGGGACTGGGTCAT	0.701000														20			13		0	0	0.001855	0	0
KCNQ4	9132	broad.mit.edu	37	1	41250026	41250026	+	Silent	SNP	C	T	T	rs4500305		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:41250026C>T	uc001cgh.2	+	0	343	c.261C>T	c.(259-261)gtC>gtT	p.V87V	KCNQ4_uc001cgi.2_Silent_p.V87V	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	87					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			AGAACTGGGTCTACAACGTGC	0.736000														42			12		0	0	0.001855	0	0
DSP	1832	broad.mit.edu	37	6	7568089	7568089	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:7568089G>A	uc003mxp.1	+	9	1495	c.1216G>A	c.(1216-1218)Gac>Aac	p.D406N	DSP_uc003mxq.1_Missense_Mutation_p.D406N|DSP_uc021yle.1_Missense_Mutation_p.D406N	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	406	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GTACCCCTGCGACAAGAACAT	0.532000														27			11		0	0	0.000978	0	0
DNAH1	25981	broad.mit.edu	37	3	52422519	52422519	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:52422519A>C	uc011bef.2	+	57	9518	c.9257A>C	c.(9256-9258)gAc>gCc	p.D3086A	DNAH1_uc003ddv.3_5'UTR	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3086	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAGGTGGAGGACGGCATCGCC	0.617000														12			4		0	0	0.009096	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368957	86368957	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:86368957C>T	uc001vll.1	-	1	2146	c.1687G>A	c.(1687-1689)Gaa>Aaa	p.E563K	SLITRK6_uc021rla.1_Missense_Mutation_p.E563K	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	563	LRRCT 2.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CAGAGAATTTCACTATTTAGG	0.433000														40			30		0	0	0.009535	0	0
G6PC	2538	broad.mit.edu	37	17	41063392	41063392	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:41063392C>T	uc002icb.1	+	4	1102	c.1023C>T	c.(1021-1023)atC>atT	p.I341I	G6PC_uc010whf.1_3'UTR	NM_000151	NP_000142	P35575	G6PC_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic subunit (G6PC), mRNA.	341			I -> N (in GSD1A).		gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCAGTGTCATCCCCTACTGCC	0.547000														97			20		0	0	0.010504	0	0
CREB3L3	84699	broad.mit.edu	37	19	4171958	4171958	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:4171958G>A	uc002lzl.3	+	9	1494	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K	CREB3L3_uc002lzm.3_Missense_Mutation_p.E450K|CREB3L3_uc010xib.2_Missense_Mutation_p.E449K|CREB3L3_uc010xic.2_3'UTR	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	460					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGGGAGACGAGCTGTGAGC	0.701000														5			4		0	0	0.000602	0	0
ANKRD12	23253	broad.mit.edu	37	18	9258199	9258199	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:9258199T>G	uc002knv.3	+	8	5198	c.4934T>G	c.(4933-4935)tTg>tGg	p.L1645W	ANKRD12_uc002knw.3_Missense_Mutation_p.L1622W|ANKRD12_uc002knx.3_Missense_Mutation_p.L1622W|ANKRD12_uc010dkx.1_Missense_Mutation_p.L1352W	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	1645						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TTAACTCATTTGAGTAGGTGT	0.368000														22			7		0	0	0.003080	0	0
UGT2A3	79799	broad.mit.edu	37	4	69796941	69796941	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:69796941C>T	uc003hef.2	-	3	1047	c.1016G>A	c.(1015-1017)gGa>gAa	p.G339E	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	339						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGGTTTTTTTCCTTTGTACCT	0.358000														26			8		0	0	0.006214	0	0
C1orf101	257044	broad.mit.edu	37	1	244724036	244724036	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:244724036C>T	uc001iam.3	+	9	1155	c.1096C>T	c.(1096-1098)Ctt>Ttt	p.L366F	C1orf101_uc001iak.1_5'UTR|C1orf101_uc001ial.3_Missense_Mutation_p.L366F|C1orf101_uc010pym.2_Missense_Mutation_p.L215F|C1orf101_uc010pyn.2_Missense_Mutation_p.L299F	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	Homo sapiens chromosome 1 open reading frame 101 (C1orf101), transcript variant 1, mRNA.	366						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ATCCATTCTTCTTAAGTTTGC	0.393000														24			18		0	0	0.006122	0	0
FAM114A2	10827	broad.mit.edu	37	5	153372608	153372608	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:153372608G>A	uc003lvd.3	-	14	1588	c.1446C>T	c.(1444-1446)atC>atT	p.I482I	FAM114A2_uc003lvb.3_Silent_p.I482I|FAM114A2_uc003lve.3_Silent_p.I298I|FAM114A2_uc011dda.2_Silent_p.I412I|FAM114A2_uc003lvc.3_Silent_p.I482I	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN	Homo sapiens family with sequence similarity 114, member A2 (FAM114A2), mRNA.	482							purine nucleotide binding	p.E481Q(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						CAATGAGAGAGATCTCTAGCA	0.428000														71			23		0	0	0.002780	0	0
PLB1	151056	broad.mit.edu	37	2	28823676	28823676	+	Splice_Site	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:28823676G>A	uc002rmb.2	+	36	2519	c.2475_splice	c.e36-1	p.E825_splice	PLB1_uc010ezj.2_Splice_Site_p.E814_splice|PLB1_uc002rme.2_5'Flank	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	825	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCTTTCTCAGGGATCTTATGA	0.418000														58			24		0	0	0.005443	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955718	18955718	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:18955718C>T	uc001mpg.3	-	0	832	c.614G>A	c.(613-615)gGa>gAa	p.G205E		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	205					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						CTTCCGGGATCCACAGAGAAT	0.512000														37			11		0	0	0.001368	0	0
FLRT1	23769	broad.mit.edu	37	11	63884171	63884171	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:63884171G>A	uc021qks.1	+	0	432	c.432G>A	c.(430-432)agG>agA	p.R144R	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Silent_p.R144R	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	116					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CCATTGCCAGGGACTCGCTGG	0.607000														47			7		0	0	0.001984	0	0
ZNF574	64763	broad.mit.edu	37	19	42584958	42584958	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:42584958C>T	uc002osk.4	+	1	2705	c.2470C>T	c.(2470-2472)Cgc>Tgc	p.R824C	ZNF574_uc002osm.4_Missense_Mutation_p.R734C|ZNF574_uc021uva.1_Missense_Mutation_p.R734C	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	Homo sapiens zinc finger protein 574 (ZNF574), mRNA.	734					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GGCCCCTGCCCGCCGCCGGGG	0.677000														90			41		0	0	0.006999	0	0
CDCP1	64866	broad.mit.edu	37	3	45127251	45127251	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:45127251G>A	uc003com.3	-	8	2525	c.2390C>T	c.(2389-2391)tCc>tTc	p.S797F		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	797						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CTCAGGAGGGGAGCGAGGAGG	0.587000														52			28		0	0	0.007291	0	0
HIVEP2	3097	broad.mit.edu	37	6	143090907	143090907	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:143090907G>A	uc003qjd.3	-	4	5712	c.4969C>T	c.(4969-4971)Ccc>Tcc	p.P1657S		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	1657					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ACATAATTGGGTTTTGTATAA	0.448000														39			27		0	0	0.005443	0	0
OR5H14	403273	broad.mit.edu	37	3	97868450	97868450	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:97868450C>T	uc003dsg.1	+	0	221	c.221C>T	c.(220-222)tCa>tTa	p.S74L		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCTTTGTTATCATCCTCAGTG	0.398000														148			85		0	0	0.003610	0	0
CFTR	1080	broad.mit.edu	37	7	117171169	117171169	+	Splice_Site	SNP	G	A	A	rs78756941		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:117171169G>A	uc003vjd.3	+	4	621	c.489_splice	c.e4+1	p.K163_splice	CFTR_uc011knq.2_Splice_Site	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	163	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)	TTATAAGAAGGTAATACTTCC	0.383000									Cystic Fibrosis					3			19		0	0	0.008871	0	0
DSG4	147409	broad.mit.edu	37	18	28966657	28966657	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:28966657G>A	uc002kwr.2	+	2	226	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	DSG4_uc002kwq.2_Missense_Mutation_p.E31K	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	31					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TAAGGTGAAGGAATTTGACAT	0.383000														43			10		0	0	0.008291	0	0
PCNT	5116	broad.mit.edu	37	21	47819663	47819663	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:47819663C>T	uc002zji.4	+	24	4851	c.4744C>T	c.(4744-4746)Cag>Tag	p.Q1582*	PCNT_uc002zjj.3_Nonsense_Mutation_p.Q1464*	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	1582					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGCCCAGCTCCAGGAAGAAGT	0.473000														59			30		0	0	0.008361	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938863	2938863	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:2938863C>T	uc001ajz.3	+	0	818	c.613C>T	c.(613-615)Ccc>Tcc	p.P205S		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	205						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CCACACCTTCCCCTGCCAGCT	0.642000														54			14		0	0	0.002450	0	0
NMUR1	10316	broad.mit.edu	37	2	232392867	232392867	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:232392867C>T	uc002vry.4	-	1	975	c.865G>A	c.(865-867)Gat>Aat	p.D289N		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	Homo sapiens neuromedin U receptor 1 (NMUR1), mRNA.	289					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CGGCCCCGATCGTGCTGCTGG	0.652000														43			10		0	0	0.001368	0	0
C14orf49	161176	broad.mit.edu	37	14	95923555	95923556	+	Missense_Mutation	DNP	TC	GT	GT	rs139621209		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:95923555_95923556TC>GT	uc001yei.4	-	3	762_763	c.747_748GA>AC	c.(745-750)cggaac>cgACac	p.N250H	C14orf49_uc010avi.3_Missense_Mutation_p.N250H|C14orf49_uc001yej.1_Missense_Mutation_p.N250H	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	250					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		AGCTTGCAGTTCCGCCCCAGGC	0.619000														78			47		0	0	0.004672	0	0
STON2	85439	broad.mit.edu	37	14	81744041	81744041	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:81744041G>A	uc010tvu.2	-	3	1812	c.1614C>T	c.(1612-1614)ttC>ttT	p.F538F	STON2_uc001xvk.1_Silent_p.F538F|STON2_uc010tvt.2_Silent_p.F335F	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	538	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TGAAACTCAGGAAGTCATCGT	0.488000														52			31		0	0	0.007291	0	0
MST1P2	11209	broad.mit.edu	37	1	16974277	16974277	+	RNA	SNP	A	C	C	rs151151026	by1000genomes	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:16974277A>C	uc009vow.2	+	4		c.1087A>C			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Splice_Site|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Splice_Site|MST1P2_uc009vox.3_Splice_Site|MST1P2_uc001azm.4_Splice_Site					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GGTCCATCTAAGGGTCCGAGG	0.657000														47			4		0	0	0.000602	0	0
DHX57	90957	broad.mit.edu	37	2	39029908	39029908	+	Silent	SNP	G	A	A	rs146662521	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:39029908G>A	uc002rrf.3	-	22	4065	c.3966C>T	c.(3964-3966)ttC>ttT	p.F1322F	DHX57_uc002rrd.4_Silent_p.F661F|DHX57_uc002rre.3_Silent_p.F755F	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	1322							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GGGAGACAACGAACTCTCCTC	0.507000														84			39		0	0	0.005524	0	0
C1QTNF6	114904	broad.mit.edu	37	22	37581438	37581438	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:37581438G>A	uc003aqx.1	-	1	372	c.109C>T	c.(109-111)Ctg>Ttg	p.L37L	C1QTNF6_uc003aqw.1_Silent_p.L18L|C1QTNF6_uc003aqy.1_Silent_p.L37L|C1QTNF6_uc003aqz.1_Non-coding_Transcript	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 6 (C1QTNF6), transcript variant 2, mRNA.	18						collagen				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TCACACATCAGGAGAAAGAGC	0.597000														48			9		0	0	0.008291	0	0
STK31	56164	broad.mit.edu	37	7	23854809	23854809	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:23854809C>T	uc003sws.4	+	22	2874	c.2807C>T	c.(2806-2808)cCc>cTc	p.P936L	STK31_uc003swt.4_Missense_Mutation_p.P913L|STK31_uc011jze.2_Intron|STK31_uc010kuq.3_Missense_Mutation_p.P913L|STK31_uc003swv.1_Missense_Mutation_p.P102L	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	936	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GATGGAATCCCCAAAGTGGAT	0.333000														37			14		0	0	0.004990	0	0
PI4KB	5298	broad.mit.edu	37	1	151288331	151288331	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:151288331G>A	uc001exr.3	-	2	1302	c.663C>T	c.(661-663)tcC>tcT	p.S221S	PI4KB_uc001exs.3_Silent_p.S209S|PI4KB_uc001exu.3_Silent_p.S209S|PI4KB_uc010pcw.2_Intron|PI4KB_uc001ext.3_Silent_p.S209S	NM_002651	NP_001185704	Q9UBF8	PI4KB_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.	209					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	Golgi apparatus|endosome|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	p.S221F(1)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	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)			CACACTGGAGGGAAAAGTTAA	0.522000														58			13		0	0	0.002450	0	0
KIAA1109	84162	broad.mit.edu	37	4	123161272	123161273	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:123161272_123161273CT>TC	uc003ieh.3	+	26	4480_4481	c.4435_4436CT>TC	c.(4435-4437)cta>TCa	p.L1479S	KIAA1109_uc003iei.1_Missense_Mutation_p.L1232S|KIAA1109_uc010ins.1_Missense_Mutation_p.L822S|KIAA1109_uc003iek.2_Missense_Mutation_p.L98S	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	1479					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TATAGAACATCTATATATTGTA	0.401000														32			16		0	0	0.004672	0	0
IGSF10	285313	broad.mit.edu	37	3	151176400	151176400	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:151176400C>G	uc011bod.2	-	0	98	c.98G>C	c.(97-99)tGt>tCt	p.C33S		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	33	LRRNT.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATAACAGGCACAGCGGCGAGG	0.557000														37			13		0	0	0.003163	0	0
HHIPL2	79802	broad.mit.edu	37	1	222712077	222712077	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:222712077C>T	uc001hnh.1	-	4	1548	c.1490G>A	c.(1489-1491)gGg>gAg	p.G497E		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	497					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GACTGACTTCCCCACTGCATG	0.468000														174			39		0	0	0.007835	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85466851	85466851	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:85466851C>T	uc001tac.3	+	10	2973	c.2862C>T	c.(2860-2862)ttC>ttT	p.F954F	LRRIQ1_uc021rbo.1_Silent_p.F832F	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	954										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATTGTAATTTCCTTATCTCCC	0.373000														28			16		0	0	0.003163	0	0
KALRN	8997	broad.mit.edu	37	3	124281768	124281768	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:124281768G>A	uc003ehg.3	+	33	5135	c.5008G>A	c.(5008-5010)Ggg>Agg	p.G1670R	KALRN_uc003ehi.3_Missense_Mutation_p.G43R	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1670	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CATCCAGGTGGGGCAGACGGT	0.657000														18			11		0	0	0.000978	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123705965	123705965	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:123705965G>T	uc001uel.3	-	0	478	c.370C>A	c.(370-372)Ctt>Att	p.L124I	MPHOSPH9_uc010tal.2_5'UTR|MPHOSPH9_uc010tam.2_Non-coding_Transcript|MPHOSPH9_uc001uem.3_5'UTR	NM_022782	NP_073619	Q99550	MPP9_HUMAN	Homo sapiens M-phase phosphoprotein 9 (MPHOSPH9), mRNA.	124					M phase of mitotic cell cycle	Golgi membrane|centriole				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TTTTCACCAAGAAAATTATGT	0.308000														35			8		0.00307968	0.00350069	0.003080	1	0
MUC16	94025	broad.mit.edu	37	19	9074179	9074179	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9074179A>T	uc002mkp.3	-	2	13471	c.13267T>A	c.(13267-13269)Ttt>Att	p.F4423I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4425	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						GATTGCATAAAATCTGGAGTC	0.498000														124			56		0	0	0.003610	0	0
KIAA0196	9897	broad.mit.edu	37	8	126044520	126044520	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:126044520C>T	uc003yrt.3	-	26	3627	c.3298G>A	c.(3298-3300)Ggc>Agc	p.G1100S	KIAA0196_uc011lir.2_Missense_Mutation_p.G952S	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	1100					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ATAAACTGGCCAATCAGCGCC	0.537000														92			36		0	0	0.003755	0	0
OR4K17	390436	broad.mit.edu	37	14	20586278	20586278	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:20586278C>T	uc001vwo.1	+	0	713	c.713C>T	c.(712-714)tCc>tTc	p.S238F		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S238S(1)		kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GGCATAATCTCCCTGAGCTGT	0.413000														99			25		0	0	0.003954	0	0
PADI2	11240	broad.mit.edu	37	1	17431502	17431502	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:17431502C>T	uc001baf.3	-	1	229	c.147G>A	c.(145-147)tgG>tgA	p.W49*	PADI2_uc010ocm.2_Nonsense_Mutation_p.W49*|PADI2_uc001bag.1_Nonsense_Mutation_p.W49*	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	49					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CCACCTCCACCCACACGTGTT	0.662000														26			14		0	0	0.003163	0	0
ABCC9	10060	broad.mit.edu	37	12	21954019	21954019	+	Missense_Mutation	SNP	C	T	T	rs149722127		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:21954019C>T	uc001rfh.3	-	37	4629	c.4609G>A	c.(4609-4611)Gaa>Aaa	p.E1537K		NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1537	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.E1537K(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACTCCATTTTCCTGAGCCAAG	0.383000														36			14		0	0	0.003163	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18194934	18194934	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:18194934G>A	uc001mnv.1	+	0	551	c.131G>A	c.(130-132)gGa>gAa	p.G44E		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA.	44						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GGACTGACAGGAAACGCGGTT	0.562000														58			30		0	0	0.002836	0	0
RFC4	5984	broad.mit.edu	37	3	186515359	186515359	+	Silent	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:186515359T>A	uc003fqz.3	-	3	478	c.255A>T	c.(253-255)acA>acT	p.T85T	RFC4_uc011bsc.2_Silent_p.T85T|RFC4_uc011bsd.2_Silent_p.T85T	NM_002916	NP_853551	P35249	RFC4_HUMAN	Homo sapiens replication factor C (activator 1) 4, 37kDa (RFC4), transcript variant 1, mRNA.	85					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		AAATAGTGGATGTTTTTCCAG	0.328000														57			24		0	0	0.005443	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28555609	28555609	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:28555609A>G	uc003ceh.3	+	6	880	c.712A>G	c.(712-714)Aaa>Gaa	p.K238E	ZCWPW2_uc003cei.3_Missense_Mutation_p.K238E|ZCWPW2_uc010hfo.3_Missense_Mutation_p.K43E	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 2 (ZCWPW2), mRNA.	238							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						TAGAAAAAGGAAAAGGTATGC	0.259000														7			5		0	0	0.000602	0	0
MYH13	8735	broad.mit.edu	37	17	10212617	10212617	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:10212617C>T	uc002gmk.1	-	34	5193	c.5103G>A	c.(5101-5103)cgG>cgA	p.R1701R		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1701					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCTGCGGGTCCGCTCCGTCT	0.657000														16			15		0	0	0.007413	0	0
CSNK1G3	1456	broad.mit.edu	37	5	122930761	122930761	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:122930761C>A	uc003ktm.3	+	10	1834	c.1115C>A	c.(1114-1116)tCc>tAc	p.S372Y	CSNK1G3_uc003ktl.3_Missense_Mutation_p.S372Y|CSNK1G3_uc003ktn.3_Intron|CSNK1G3_uc003kto.3_Intron|CSNK1G3_uc011cwr.2_Intron|CSNK1G3_uc011cws.2_Intron|CSNK1G3_uc010jda.3_Intron	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	Homo sapiens casein kinase 1, gamma 3 (CSNK1G3), transcript variant 1, mRNA.	372					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		GCTTGGGACTCCCAGCAGGCA	0.443000														59			18		2.4624e-09	2.81604e-09	0.008871	1	0
CEP68	23177	broad.mit.edu	37	2	65296886	65296886	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:65296886C>T	uc002sdl.4	+	1	522	c.308C>T	c.(307-309)cCt>cTt	p.P103L	CEP68_uc002sdj.2_Missense_Mutation_p.P103L|CEP68_uc010yqb.1_Missense_Mutation_p.P103L|CEP68_uc002sdk.4_Missense_Mutation_p.P103L|CEP68_uc010yqc.2_Missense_Mutation_p.P103L|CEP68_uc010yqd.1_Missense_Mutation_p.P103L	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	Homo sapiens centrosomal protein 68kDa (CEP68), mRNA.	103					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						AGTGGCCTGCCTCCTGCCACC	0.607000														69			39		0	0	0.004878	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542082	133542082	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:133542082G>A	uc002ttp.3	-	13	2676	c.2302C>T	c.(2302-2304)Cct>Tct	p.P768S	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	768							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGCTGCTGAGGATTTTGTGTC	0.433000														59			29		0	0	0.002096	0	0
RBP3	5949	broad.mit.edu	37	10	48390440	48390440	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:48390440C>T	uc001jez.3	-	0	552	c.438G>A	c.(436-438)atG>atA	p.M146I		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	146	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ACTCCCCCATCATGCTCAGCA	0.647000														35			37		0	0	0.004289	0	0
SGOL2	151246	broad.mit.edu	37	2	201438509	201438509	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:201438509T>G	uc002uvw.2	+	6	3553	c.3440T>G	c.(3439-3441)aTa>aGa	p.I1147R	SGOL2_uc010zhd.1_Missense_Mutation_p.I1147R|SGOL2_uc010zhe.1_Missense_Mutation_p.I1147R	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	1147					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TCACCTAACATACAAGATTCT	0.343000														47			19		0	0	0.007413	0	0
INPP4A	3631	broad.mit.edu	37	2	99156085	99156085	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:99156085C>T	uc002syy.3	+	9	1158	c.765C>T	c.(763-765)tcC>tcT	p.S255S	INPP4A_uc010yvj.1_Silent_p.S255S|INPP4A_uc010yvk.2_Silent_p.S255S|INPP4A_uc002syx.3_Silent_p.S255S|INPP4A_uc010fik.3_Intron	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type I, 107kDa (INPP4A), transcript variant d, mRNA.	255					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GCGTGCTCTCCCTGCACGTGC	0.567000														45			24		0	0	0.003954	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110478830	110478830	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:110478830C>T	uc003yne.3	+	49	8541	c.8437C>T	c.(8437-8439)Cca>Tca	p.P2813S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2813					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)			TACCGTCATTCCACACAGCTC	0.408000										HNSCC(38;0.096)				14			5		0	0	0.000602	0	0
C11orf41	25758	broad.mit.edu	37	11	33631448	33631448	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:33631448G>A	uc021qfs.1	+	13	4448	c.4324G>A	c.(4324-4326)Gaa>Aaa	p.E1442K		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	1442						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						AGCCCCGAAGGAAATGGAGCA	0.478000														50			19		0	0	0.010504	0	0
INPPL1	3636	broad.mit.edu	37	11	71946225	71946225	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:71946225C>T	uc001osf.3	+	21	2628	c.2481C>T	c.(2479-2481)tcC>tcT	p.S827S	INPPL1_uc001osg.3_Silent_p.S585S	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	827					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAGTCAAGTCCATGGATGGCT	0.547000														51			15		0	0	0.003163	0	0
EPPK1	83481	broad.mit.edu	37	8	144942583	144942583	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:144942583G>A	uc003zaa.1	-	0	4852	c.4839C>T	c.(4837-4839)ttC>ttT	p.F1613F		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1613						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTCGATGATGAAGCCGGTAG	0.627000														46			10		0	0	0.006214	0	0
TMC7	79905	broad.mit.edu	37	16	19067872	19067872	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:19067872C>T	uc002dfp.2	+	13	2010	c.1880C>T	c.(1879-1881)tCc>tTc	p.S627F	TMC7_uc002dfq.3_Missense_Mutation_p.S627F|TMC7_uc010vap.2_Missense_Mutation_p.S517F	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	627						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						AGCATCCCTTCCTCGAAAGCC	0.572000														28			25		0	0	0.004656	0	0
C8orf34	116328	broad.mit.edu	37	8	69381046	69381046	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:69381046C>T	uc010lyz.3	+	3	1018	c.727C>T	c.(727-729)Ctc>Ttc	p.L243F	C8orf34_uc010lyy.2_Missense_Mutation_p.L243F|C8orf34_uc003xyb.3_Missense_Mutation_p.L132F	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	157					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CCTTGAGAATCTCTCTCGAAG	0.388000														29			4		0	0	0.000602	0	0
GATA5	140628	broad.mit.edu	37	20	61048533	61048533	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:61048533G>A	uc002ycx.1	-	2	687	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L		NM_080473	NP_536721	Q9BWX5	GATA5_HUMAN	Homo sapiens GATA binding protein 5 (GATA5), mRNA.	209					blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			GCATTGCACAGGTAGTGGCCG	0.662000														21			5		0	0	0.000602	0	0
TGM6	343641	broad.mit.edu	37	20	2376014	2376014	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:2376014C>T	uc002wfy.1	+	2	417	c.356C>T	c.(355-357)tCc>tTc	p.S119F	TGM6_uc010gal.1_Missense_Mutation_p.S119F	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	119					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ATCAGGCTTTCCTCTCACCGC	0.562000														96			26		0	0	0.009535	0	0
TTN	7273	broad.mit.edu	37	2	179647757	179647757	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179647757G>A	uc021vsy.1	-	17	3101	c.2876C>T	c.(2875-2877)tCt>tTt	p.S959F	TTN_uc021vsz.1_Missense_Mutation_p.S913F|TTN_uc021vta.1_Missense_Mutation_p.S913F|TTN_uc021vtb.1_Missense_Mutation_p.S913F|TTN_uc002unb.2_Missense_Mutation_p.S959F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	959	Ig-like 3.						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)			CAAGGTGACAGATTCACCTTC	0.403000														44			19		0	0	0.007413	0	0
C3	718	broad.mit.edu	37	19	6709694	6709694	+	Splice_Site	SNP	C	T	T	rs111861067		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:6709694C>T	uc002mfm.3	-	14	1907	c.1845_splice	c.e14+1	p.K615_splice		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	615					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTGGCCCTTACCTTACTCTGC	0.627000														159			54		0	0	0.003610	0	0
ENAM	10117	broad.mit.edu	37	4	71509241	71509241	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:71509241C>T	uc011caw.1	+	8	2379	c.2098C>T	c.(2098-2100)Ctt>Ttt	p.L700F		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	700					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AAAGGAATATCTTCCCTATTC	0.388000														45			10		0	0	0.008291	0	0
CALML3	810	broad.mit.edu	37	10	5567446	5567446	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:5567446G>A	uc001iie.1	+	0	523	c.398G>A	c.(397-399)gGa>gAa	p.G133E	AK128534_uc001iid.1_5'Flank	NM_005185	NP_005176	P27482	CALL3_HUMAN	Homo sapiens calmodulin-like 3 (CALML3), mRNA.	133	EF-hand 4.						calcium ion binding			endometrium(3)|lung(2)	5						GACACGGACGGAGACGGACAG	0.672000														30			8		0	0	0.003080	0	0
TPM4	7171	broad.mit.edu	37	19	16178477	16178477	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:16178477A>G	uc002ndi.2	+	0	161	c.43A>G	c.(43-45)Aag>Gag	p.K15E		NM_001145160	NP_001138632	P67936	TPM4_HUMAN	Homo sapiens tropomyosin 4 (TPM4), transcript variant 1, mRNA.	140					cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						GAAGTTGGACAAGGAGAATGC	0.667000			T	ALK	ALCL									46			13		0	0	0.004007	0	0
MGST3	4259	broad.mit.edu	37	1	165619140	165619140	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:165619140T>C	uc001gdf.3	+	1	484	c.56T>C	c.(55-57)tTt>tCt	p.F19S		NM_004528	NP_004519	O14880	MGST3_HUMAN	Homo sapiens microsomal glutathione S-transferase 3 (MGST3), mRNA.	19					leukotriene biosynthetic process|leukotriene production involved in inflammatory response|signal transduction|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glutathione peroxidase activity|glutathione transferase activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Glutathione(DB00143)	GCTGCCAGCTTTATAATGGTG	0.517000														47			12		0	0	0.001855	0	0
GLYATL2	219970	broad.mit.edu	37	11	58601949	58601949	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:58601949G>A	uc001nnd.4	-	5	969	c.838C>T	c.(838-840)Cct>Tct	p.P280S	GLYATL2_uc009ymq.3_Missense_Mutation_p.P280S	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	280						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	CAGCCACAAGGACAAATCTTA	0.353000														36			16		0	0	0.004007	0	0
FGR	2268	broad.mit.edu	37	1	27942117	27942117	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:27942117C>T	uc001boj.3	-	6	992	c.846G>A	c.(844-846)tgG>tgA	p.W282*	FGR_uc001boi.3_5'UTR|FGR_uc001bok.3_Nonsense_Mutation_p.W282*|FGR_uc001bol.3_Nonsense_Mutation_p.W282*|FGR_uc001bom.3_Nonsense_Mutation_p.W282*	NM_005248	NP_005239	P09769	FGR_HUMAN	Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.	282	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGCTGCCGTTCCACGTGCCTG	0.687000														8			10		0	0	0.000978	0	0
HGD	3081	broad.mit.edu	37	3	120393830	120393830	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:120393830G>A	uc003edw.3	-	2	554	c.94C>T	c.(94-96)Cct>Tct	p.P32S		NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	32					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CAGACCTGAGGATTATTCTGA	0.473000														98			39		0	0	0.006230	0	0
abParts	0	broad.mit.edu	37	14	107062244	107062244	+	RNA	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:107062244A>T	uc021ser.1	-	150		c.6742T>A								Parts of antibodies, mostly variable regions.																		GACGGGTTGTAGTAGGTGCTC	0.577000														61			26		0	0	0.004656	0	0
CCL25	6370	broad.mit.edu	37	19	8122782	8122782	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:8122782C>T	uc002mjd.3	+	4	534	c.423C>T	c.(421-423)tcC>tcT	p.S141S	CCL25_uc002mjc.4_Silent_p.S140S|CCL25_uc010dvy.1_3'UTR	NM_005624	NP_005615	O15444	CCL25_HUMAN	Homo sapiens chemokine (C-C motif) ligand 25 (CCL25), transcript variant 1, mRNA.	141					G-protein coupled receptor protein signaling pathway|chemotaxis|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity			NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1)	5						ggaatgtctccctcctgatat	0.483000														81			38		0	0	0.002522	0	0
LTBP4	8425	broad.mit.edu	37	19	41129586	41129586	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:41129586T>C	uc002ooh.1	+	28	3832	c.3832T>C	c.(3832-3834)Tgc>Cgc	p.C1278R	LTBP4_uc002oog.1_Missense_Mutation_p.C1241R|LTBP4_uc002ooi.1_Missense_Mutation_p.C1211R|LTBP4_uc002ooj.1_Missense_Mutation_p.C152R|LTBP4_uc002ook.1_Missense_Mutation_p.C413R|LTBP4_uc002ool.1_Missense_Mutation_p.C291R|LTBP4_uc010xvp.1_Missense_Mutation_p.C39R	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.	1279	EGF-like 13; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGGCTACTCATGCTATTGCAG	0.592000														29			17		0	0	0.006122	0	0
AKT1	207	broad.mit.edu	37	14	105246461	105246461	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:105246461G>A	uc001ypk.3	-	2	693	c.139C>T	c.(139-141)Caa>Taa	p.Q47*	AKT1_uc001ypl.3_Nonsense_Mutation_p.Q47*|AKT1_uc010axa.3_Nonsense_Mutation_p.Q47*|AKT1_uc001ypm.3_Nonsense_Mutation_p.Q47*|AKT1_uc001ypn.3_Nonsense_Mutation_p.Q47*|AKT1_uc010tyk.2_5'Flank	NM_005163	NP_005154	P31749	AKT1_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 1, mRNA.	47	PH.				G-protein coupled receptor protein signaling pathway|T cell costimulation|activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to UV-A|response to fluid shear stress|response to heat	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	p.D46E(1)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	GCCTCACGTTGGTCCACATCC	0.577000		1	Mis		"""breast, colorectal, ovarian, NSCLC"""									38			25		0	0	0.005443	0	0
GIP	2695	broad.mit.edu	37	17	47041831	47041831	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:47041831G>A	uc002iol.1	-	2	196	c.98C>T	c.(97-99)tCc>tTc	p.S33F		NM_004123	NP_004114	P09681	GIP_HUMAN	Homo sapiens gastric inhibitory polypeptide (GIP), mRNA.	33					energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity			lung(2)|skin(1)|stomach(1)	4						AACAGGCAGGGAGGGGAGAGC	0.557000														42			23		0	0	0.002299	0	0
SLC45A4	57210	broad.mit.edu	37	8	142231803	142231803	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:142231803G>A	uc003ywd.1	-	1	458	c.150C>T	c.(148-150)ttC>ttT	p.F50F	SLC45A4_uc003ywc.1_Silent_p.F50F|SLC45A4_uc010meq.1_Silent_p.F48F	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	101					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGAGAGGTGTGAAGATGAGGC	0.652000														54			33		0	0	0.004878	0	0
ZNF552	79818	broad.mit.edu	37	19	58320092	58320092	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:58320092G>A	uc002qqg.3	-	2	710	c.540C>T	c.(538-540)ctC>ctT	p.L180L	ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.2_Silent_p.L176L	NM_024762	NP_079038	Q9H707	ZN552_HUMAN	Homo sapiens zinc finger protein 552 (ZNF552), mRNA.	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		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;0.0259)		ATCCTGACCTGAGCAAAAAGT	0.488000														96			40		0	0	0.006999	0	0
CNTN6	27255	broad.mit.edu	37	3	1414149	1414149	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:1414149G>A	uc003boz.3	+	12	1926	c.1659G>A	c.(1657-1659)agG>agA	p.R553R	CNTN6_uc011asj.2_Silent_p.R481R|CNTN6_uc003bpa.3_Silent_p.R553R	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	553	Ig-like C2-type 6.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ATTTTGAAAGGATTGGAGGAG	0.353000														43			16		0	0	0.007413	0	0
IGFBP1	3484	broad.mit.edu	37	7	45930193	45930194	+	Nonsense_Mutation	DNP	GG	AT	AT			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:45930193_45930194GG>AT	uc003tnp.3	+	1	689_690	c.396_397GG>AT	c.(394-399)gaggag>gaATag	p.E133*		NM_000596	NP_000587	P08833	IBP1_HUMAN	Homo sapiens insulin-like growth factor binding protein 1 (IGFBP1), mRNA.	133						extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						TAACTGAGGAGGAGCTCCTGGA	0.535000											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		57			38		0	0	0.004672	0	0
ANKRD12	23253	broad.mit.edu	37	18	9257666	9257666	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:9257666C>T	uc002knv.3	+	8	4665	c.4401C>T	c.(4399-4401)tcC>tcT	p.S1467S	ANKRD12_uc002knw.3_Silent_p.S1444S|ANKRD12_uc002knx.3_Silent_p.S1444S|ANKRD12_uc010dkx.1_Silent_p.S1174S	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	1467						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ATTTTTTATCCCTGCGCCAGA	0.428000														45			12		0	0	0.001368	0	0
OR9G4	283189	broad.mit.edu	37	11	56510823	56510823	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:56510823G>A	uc010rjo.2	-	0	465	c.465C>T	c.(463-465)ctC>ctT	p.L155L		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GCCCAGTACAGAGGGCGGTGG	0.468000														84			30		0	0	0.002096	0	0
OR10G2	26534	broad.mit.edu	37	14	22102213	22102213	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:22102213G>A	uc010tmc.2	-	0	786	c.786C>T	c.(784-786)ttC>ttT	p.F262F		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TAAGGTAGATGAAAATACAGG	0.547000														31			16		0	0	0.004007	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767855	77767855	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:77767855G>A	uc003yau.2	+	9	9085	c.8698G>A	c.(8698-8700)Gaa>Aaa	p.E2900K	ZFHX4_uc003yaw.1_Missense_Mutation_p.E2855K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2855						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CGACCGCAGCGAAACGTCCAG	0.512000										HNSCC(33;0.089)				34			10		0	0	0.008291	0	0
GRIP2	80852	broad.mit.edu	37	3	14565160	14565160	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:14565160G>A	uc021wtn.1	-	5	740	c.740C>T	c.(739-741)tCc>tTc	p.S247F	GRIP2_uc003byu.1_3'UTR|GRIP2_uc003byv.1_Missense_Mutation_p.S150F	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	150					synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CTTGTAGAGGGAGACGTCCAC	0.498000														18			8		0	0	0.004482	0	0
CCDC129	223075	broad.mit.edu	37	7	31617906	31617906	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:31617906C>G	uc011kae.2	+	7	1118	c.1106C>G	c.(1105-1107)cCg>cGg	p.P369R	CCDC129_uc011kad.1_Missense_Mutation_p.P353R|CCDC129_uc003tcj.1_Missense_Mutation_p.P343R|CCDC129_uc003tci.1_Intron|CCDC129_uc003tck.1_Missense_Mutation_p.P251R	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	343										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TCATCTATGCCGGCCAAGCAG	0.498000														43			9		0	0	0.006214	0	0
FGGY	55277	broad.mit.edu	37	1	59844482	59844482	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:59844482C>T	uc009wac.3	+	4	739	c.527C>T	c.(526-528)tCg>tTg	p.S176L	FGGY_uc001czg.2_Missense_Mutation_p.S64L|FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Missense_Mutation_p.S176L|FGGY_uc001czl.4_Missense_Mutation_p.S88L	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	176					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					GACTTCTTATCGTGGAAGGCA	0.393000														31			10		0	0	0.008291	0	0
LPAL2	80350	broad.mit.edu	37	6	160903763	160903763	+	RNA	SNP	T	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:160903763T>G	uc003qtj.2	-	6		c.1121A>C			LPAL2_uc011efy.2_Non-coding_Transcript					Homo sapiens lipoprotein, Lp(a)-like 2, pseudogene (LPAL2), transcript variant 2, non-coding RNA.											large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GGCAGGTTCTTCCTGTGACAG	0.473000														193			92		0	0	0.003610	0	0
TUBB	203068	broad.mit.edu	37	6	30690766	30690766	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:30690766C>T	uc003nrl.3	+	2	365	c.238C>T	c.(238-240)Cct>Tct	p.P80S	TUBB_uc011dmq.2_Missense_Mutation_p.P8S	NM_178014	NP_821133	P07437	TBB5_HUMAN	Homo sapiens tubulin, beta class I (TUBB), mRNA.	80					G2/M transition of mitotic cell cycle|cellular component movement|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	TCGCTCAGGTCCTTTTGGCCA	0.428000														79			33		0	0	0.005524	0	0
EYA1	2138	broad.mit.edu	37	8	72127689	72127689	+	Silent	SNP	C	T	T	rs147434089		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:72127689C>T	uc003xyu.3	-	15	2170	c.1530G>A	c.(1528-1530)gcG>gcA	p.A510A	EYA1_uc003xyt.4_Silent_p.A477A|EYA1_uc003xyr.4_Silent_p.A475A|EYA1_uc010lzf.3_Silent_p.A437A|EYA1_uc003xys.4_Silent_p.A510A|EYA1_uc011lfe.2_Silent_p.A504A|EYA1_uc003xyv.3_Silent_p.A388A	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	510					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GCAGGACTTTCGCCAATGCTG	0.338000														66			31		0	0	0.005524	0	0
PKLR	5313	broad.mit.edu	37	1	155264324	155264324	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:155264324C>T	uc001fkb.4	-	5	953	c.914G>A	c.(913-915)gGa>gAa	p.G305E	PKLR_uc001fka.4_Missense_Mutation_p.G274E	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	305					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GATGCCGTGTCCTTCCGGACC	0.597000														35			31		0	0	0.008361	0	0
AKAP3	10566	broad.mit.edu	37	12	4736646	4736646	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:4736646G>A	uc001qnb.4	-	3	1666	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	474					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CTGCATGCTGGAAACCTAGAG	0.463000														34			6		0	0	0.004482	0	0
CCDC88B	283234	broad.mit.edu	37	11	64112150	64112150	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:64112150G>A	uc001nzy.3	+	13	2186	c.2137G>A	c.(2137-2139)Ggc>Agc	p.G713S	CCDC88B_uc009ypo.2_Missense_Mutation_p.G710S|CCDC88B_uc001nzz.1_Missense_Mutation_p.G362S	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	713					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGTCTGGGAAGGCCCAATCCC	0.622000														29			12		0	0	0.001368	0	0
MON2	23041	broad.mit.edu	37	12	62892735	62892735	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:62892735G>A	uc001sre.3	+	4	863	c.472G>A	c.(472-474)Gat>Aat	p.D158N	MON2_uc010ssn.2_Missense_Mutation_p.D158N|MON2_uc009zqj.3_Missense_Mutation_p.D158N|MON2_uc010ssl.2_Missense_Mutation_p.D86N|MON2_uc010ssm.2_Missense_Mutation_p.D158N|MON2_uc001srf.3_5'Flank|MON2_uc001srd.1_Missense_Mutation_p.D50N	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	158					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CTTCACAAAAGATAATATTAC	0.343000														55			24		0	0	0.002299	0	0
GPATCH2	55105	broad.mit.edu	37	1	217784405	217784405	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:217784405C>T	uc001hlf.1	-	3	940	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	GPATCH2_uc001hlg.4_Missense_Mutation_p.E282K	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	Homo sapiens G patch domain containing 2 (GPATCH2), mRNA.	282						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TCACTCTGTTCATCATCACCT	0.433000														42			28		0	0	0.007291	0	0
CGNL1	84952	broad.mit.edu	37	15	57835964	57835964	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:57835964C>T	uc010bfw.3	+	15	3555	c.3362C>T	c.(3361-3363)tCc>tTc	p.S1121F	CGNL1_uc002aeg.3_Missense_Mutation_p.S1121F	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	1121						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GACAAGATTTCCCTGGAGAGG	0.567000														35			4		0	0	0.001168	0	0
FRMD1	79981	broad.mit.edu	37	6	168479606	168479606	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:168479606G>A	uc003qwo.4	-	0	234	c.169C>T	c.(169-171)Ctc>Ttc	p.L57F		NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	Homo sapiens FERM domain containing 1 (FRMD1), transcript variant 1, mRNA.	57	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		AGCAGCACGAGGACATCCCTG	0.677000														54			32		0	0	0.003755	0	0
SLC2A4RG	56731	broad.mit.edu	37	20	62373328	62373328	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:62373328C>T	uc002ygq.3	+	3	553	c.498C>T	c.(496-498)tcC>tcT	p.S166S	SLC2A4RG_uc002ygr.3_Silent_p.S61S|SLC2A4RG_uc011abj.2_Silent_p.S61S|SLC2A4RG_uc002ygs.3_Intron	NM_020062	NP_064446	Q9NR83	S2A4R_HUMAN	Homo sapiens SLC2A4 regulator (SLC2A4RG), mRNA.	166						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GTGACCAGTCCTCTCCGTCCA	0.677000														29			14		0	0	0.004007	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485190	97485190	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:97485190C>T	uc001vmw.3	+	1	1178	c.1154C>T	c.(1153-1155)tCt>tTt	p.S385F		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	385						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					ACGCGGGCTTCTAACGTGGAG	0.502000														52			23		0	0	0.003954	0	0
GRIA2	2891	broad.mit.edu	37	4	158262423	158262423	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:158262423T>C	uc003ipm.4	+	11	2311	c.1852T>C	c.(1852-1854)Tct>Cct	p.S618P	GRIA2_uc011cit.2_Missense_Mutation_p.S571P|GRIA2_uc003ipl.4_Missense_Mutation_p.S618P|GRIA2_uc003ipk.4_Missense_Mutation_p.S571P|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	618					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TAGATCCCTCTCTGGGCGCAT	0.398000														81			26		0	0	0.005443	0	0
SUPT16H	11198	broad.mit.edu	37	14	21838552	21838552	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:21838552G>A	uc001wao.2	-	3	765	c.426C>T	c.(424-426)ttC>ttT	p.F142F		NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.	142					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		ACTCTCCAGGGAATTTGTCTT	0.378000														136			48		0	0	0.003610	0	0
ALS2CR8	79800	broad.mit.edu	37	2	203807494	203807494	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:203807494C>T	uc002uzo.2	+	3	390	c.110C>T	c.(109-111)tCc>tTc	p.S37F	ALS2CR8_uc002uzn.3_Intron|ALS2CR8_uc002uzm.3_Missense_Mutation_p.S37F|ALS2CR8_uc010zhy.1_Missense_Mutation_p.S37F|ALS2CR8_uc010zhz.1_Non-coding_Transcript|ALS2CR8_uc010ftu.1_Non-coding_Transcript|ALS2CR8_uc010zia.1_Intron|ALS2CR8_uc010zib.1_Intron|ALS2CR8_uc010zic.1_Intron|ALS2CR8_uc002uzp.2_Missense_Mutation_p.S37F	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA.	37										breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	20						AGGGATTCTTCCTTTGGACAA	0.353000														250			118		0	0	0.003610	0	0
OR8D1	283159	broad.mit.edu	37	11	124179743	124179743	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:124179743C>T	uc010sag.2	-	0	920	c.920G>A	c.(919-921)gGa>gAa	p.G307E		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GACTCATTTTCCTACTAAGAC	0.368000														31			15		0	0	0.003163	0	0
RASSF4	83937	broad.mit.edu	37	10	45479559	45479559	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:45479559C>T	uc001jbp.3	+	3	2013	c.464C>T	c.(463-465)tCg>tTg	p.S155L	RASSF4_uc001jbo.3_Missense_Mutation_p.S124L|RASSF4_uc009xmn.3_Missense_Mutation_p.S54L|RASSF4_uc001jbq.3_Intron|RASSF4_uc001jbt.3_Missense_Mutation_p.S81L			Q9H2L5	RASF4_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 4 (RASSF4), mRNA.	124					cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						ACAGACAGCTCGGGTAAGCGG	0.597000														5			3		0	0	0.009096	0	0
MUC16	94025	broad.mit.edu	37	19	9057040	9057040	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9057040G>A	uc002mkp.3	-	2	30610	c.30406C>T	c.(30406-30408)Ccc>Tcc	p.P10136S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10138	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						ATGGAAGAGGGAGTACCCACT	0.468000														33			16		0	0	0.006122	0	0
NPY1R	4886	broad.mit.edu	37	4	164247100	164247100	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:164247100G>A	uc003iqm.2	-	1	1072	c.607C>T	c.(607-609)Cca>Tca	p.P203S	NPY1R_uc021xtv.1_Missense_Mutation_p.P203S|NPY1R_uc011cjj.2_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	203					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAGTCCGATGGAAATTGATCA	0.383000														27			8		0	0	0.003080	0	0
NDST4	64579	broad.mit.edu	37	4	115754843	115754843	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:115754843C>T	uc003ibu.3	-	11	2994	c.2315G>A	c.(2314-2316)aGa>aAa	p.R772K	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	772	Heparan sulfate N-sulfotransferase 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)		TGGGTCAGATCTCAGCTGCTG	0.383000														26			6		0	0	0.003080	0	0
KIAA1841	84542	broad.mit.edu	37	2	61304125	61304125	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:61304125C>T	uc002saw.4	+	5	805	c.502C>T	c.(502-504)Ctt>Ttt	p.L168F	KIAA1841_uc002sax.4_Missense_Mutation_p.L22F|KIAA1841_uc002say.3_Missense_Mutation_p.L168F|KIAA1841_uc002sav.4_Missense_Mutation_p.L168F	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	Homo sapiens KIAA1841 (KIAA1841), transcript variant 1, mRNA.	168										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			CCCGCGAGATCTTTTGATATC	0.373000														69			28		0	0	0.006320	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	45999659	45999659	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:45999659C>G	uc002zfl.1	-	0	823	c.797G>C	c.(796-798)tGc>tCc	p.C266S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198694	NP_941967	P60370	KR105_HUMAN	Homo sapiens keratin associated protein 10-5 (KRTAP10-5), mRNA.	266						keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						CAGGCGGGAGCACGCGGGGCG	0.687000														29			14		0	0	0.004007	0	0
DCAF13	25879	broad.mit.edu	37	8	104427557	104427557	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:104427557C>T	uc003yln.3	+	0	616	c.339C>T	c.(337-339)tcC>tcT	p.S113S	SLC25A32_uc003yll.3_5'Flank|SLC25A32_uc011lhr.2_5'Flank|DCAF13_uc003ylm.1_5'UTR	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.	0					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GCCGCCGCTCCGCGAGTCACG	0.637000														36			18		0	0	0.004990	0	0
C2orf53	339779	broad.mit.edu	37	2	27360240	27360240	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:27360240C>T	uc002rjb.2	-	2	1538	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|C2orf53_uc021vfb.1_Missense_Mutation_p.E320K	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	Homo sapiens chromosome 2 open reading frame 53 (C2orf53), mRNA.	320										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCCTGCTTCCTTCGGCCTT	0.667000														46			29		0	0	0.005443	0	0
SEC14L4	284904	broad.mit.edu	37	22	30887877	30887877	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:30887877G>A	uc003aid.2	-	9	955	c.855C>T	c.(853-855)ggC>ggT	p.G285G	SEC14L4_uc011akz.1_Silent_p.G285G|SEC14L4_uc003aie.2_Silent_p.G270G|SEC14L4_uc003aif.2_Silent_p.G231G	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	285	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	AGGAGCCGCGGCCCACGGACC	0.627000														20			11		0	0	0.000978	0	0
OR10G7	390265	broad.mit.edu	37	11	123909443	123909443	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:123909443C>T	uc001pzq.1	-	0	266	c.266G>A	c.(265-267)aGg>aAg	p.R89K		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGAGATAGTCCTGCCGCTTGG	0.522000														233			27		0	0	0.008361	0	0
RARRES3	5920	broad.mit.edu	37	11	63313695	63313695	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:63313695G>A	uc001nxf.4	+	3	530	c.462G>A	c.(460-462)gcG>gcA	p.A154A		NM_004585	NP_004576	Q9UL19	TIG3_HUMAN	Homo sapiens retinoic acid receptor responder (tazarotene induced) 3 (RARRES3), mRNA.	154					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						GCTCTTTTGCGATTAGGAGAT	0.522000														145			45		0	0	0.003610	0	0
FOXR2	139628	broad.mit.edu	37	X	55650949	55650949	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:55650949C>T	uc004duo.3	+	0	1117	c.805C>T	c.(805-807)Ctt>Ttt	p.L269F		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	269					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TCGCTCTTGCCTTTGGAAGCT	0.517000														20			27		0	0	0.005443	0	0
RIMBP3	85376	broad.mit.edu	37	22	20457212	20457212	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:20457212G>A	uc002zsd.4	-	0	4575	c.4090C>T	c.(4090-4092)Cag>Tag	p.Q1364*	RN7SK_uc021wlw.1_5'Flank	NM_015672	NP_056487			Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			GCGCCCAGCTGGGGAGGTGTG	0.572000														51			6		0	0	0.006214	0	0
C11orf54	28970	broad.mit.edu	37	11	93480597	93480597	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:93480597T>G	uc001peh.3	+	1	232	c.38T>G	c.(37-39)cTt>cGt	p.L13R	C11orf54_uc001pef.3_Missense_Mutation_p.L13R|C11orf54_uc009ywi.3_Missense_Mutation_p.L13R|C11orf54_uc001peg.3_Missense_Mutation_p.L13R|C11orf54_uc001pei.3_Intron|C11orf54_uc001pej.3_5'Flank	NM_014039	NP_054758	Q9H0W9	CK054_HUMAN	Homo sapiens chromosome 11 open reading frame 54 (C11orf54), mRNA.	13						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GTACCAAGTCTTGAAGAGCTT	0.313000														44			7		0	0	0.004482	0	0
CLVS2	134829	broad.mit.edu	37	6	123369853	123369853	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:123369853C>T	uc003pzi.1	+	3	1520	c.651C>T	c.(649-651)ttC>ttT	p.F217F		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	217	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TCCGGCCTTTCCTGAAGGAGA	0.393000														114			56		0	0	0.003610	0	0
TMC7	79905	broad.mit.edu	37	16	19041653	19041653	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:19041653C>T	uc002dfp.2	+	5	949	c.819C>T	c.(817-819)atC>atT	p.I273I	TMC7_uc010vao.1_Silent_p.I273I|TMC7_uc002dfq.3_Silent_p.I273I|TMC7_uc010vap.2_Silent_p.I163I	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	273						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TAAGCACAATCGCCTCCCTGG	0.463000														28			23		0	0	0.002299	0	0
OR1A1	8383	broad.mit.edu	37	17	3118978	3118978	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:3118978G>A	uc010vrc.2	+	0	64	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TGGTCAGCAGGAACAGGAAGA	0.438000														45			32		0	0	0.002445	0	0
RABGAP1	23637	broad.mit.edu	37	9	125852081	125852081	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:125852081C>T	uc011lzh.2	+	19	2603	c.2469C>T	c.(2467-2469)acC>acT	p.T823T	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Silent_p.T162T	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	823					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AATATCACACCATGAGGGAAC	0.413000														3			3		0	0	0.000602	0	0
SYCP2L	221711	broad.mit.edu	37	6	10928656	10928656	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:10928656C>T	uc003mzo.3	+	17	1757	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	SYCP2L_uc011din.1_Intron|SYCP2L_uc010jow.3_Silent_p.F107F	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	487						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			tccctccgttcggggtccctg	0.463000														39			15		0	0	0.002450	0	0
ANK1	286	broad.mit.edu	37	8	41566302	41566302	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:41566302C>T	uc003xok.3	-	16	2076	c.1992G>A	c.(1990-1992)ggG>ggA	p.G664G	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_5'Flank|ANK1_uc003xoi.3_Silent_p.G664G|ANK1_uc003xoj.3_Silent_p.G664G|ANK1_uc003xol.3_Silent_p.G664G|ANK1_uc003xom.3_Silent_p.G697G	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	664	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTACCTTGTTCCCCAGGTTGC	0.567000														90			38		0	0	0.009718	0	0
KCNK9	51305	broad.mit.edu	37	8	140630620	140630620	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:140630620C>T	uc003yvf.1	-	1	1070	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	KCNK9_uc003yvg.1_Missense_Mutation_p.E336K|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	336						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GGTGAGATCTCCTCGATCTTG	0.552000														67			44		0	0	0.003214	0	0
DOCK4	9732	broad.mit.edu	37	7	111509675	111509675	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:111509675C>T	uc003vfy.3	-	20	2333	c.2064G>A	c.(2062-2064)cgG>cgA	p.R688R	DOCK4_uc003vfw.3_Silent_p.R129R|DOCK4_uc003vfx.3_Silent_p.R688R|DOCK4_uc003vga.1_Silent_p.R293R	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	688					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTTCTGTGATCCGGTCCACGT	0.423000														20			49		0	0	0.003610	0	0
UNC5D	137970	broad.mit.edu	37	8	35631906	35631906	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:35631906C>T	uc003xjr.2	+	15	2896	c.2568C>T	c.(2566-2568)tcC>tcT	p.S856S	UNC5D_uc003xjs.2_Silent_p.S851S|UNC5D_uc003xju.2_Silent_p.S432S	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	856					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTCCCTACTCCATCAGACAGC	0.463000														57			28		0	0	0.006320	0	0
PNP	4860	broad.mit.edu	37	14	20943275	20943275	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:20943275G>A	uc001vxo.4	+	4	662	c.516G>A	c.(514-516)caG>caA	p.Q172Q	PNP_uc010ahn.3_3'UTR|PNP_uc021rns.1_Silent_p.Q43Q	NM_000270	NP_000261	P00491	PNPH_HUMAN	Homo sapiens purine nucleoside phosphorylase (PNP), mRNA.	172					NAD biosynthesis via nicotinamide riboside salvage pathway|immune response|inosine catabolic process|interleukin-2 secretion|nicotinamide riboside catabolic process|positive regulation of T cell proliferation|positive regulation of alpha-beta T cell differentiation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	CTATGAGGCAGAGGGCTCTCA	0.493000														61			23		0	0	0.003954	0	0
PASD1	139135	broad.mit.edu	37	X	150789486	150789486	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:150789486C>T	uc004fev.4	+	4	624	c.292C>T	c.(292-294)Cct>Tct	p.P98S		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	98	PAS.					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)					TCTCAAATTTCCTTTACTAAA	0.328000														16			24		0	0	0.004656	0	0
AGMAT	79814	broad.mit.edu	37	1	15909809	15909809	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:15909809G>A	uc001awv.2	-	1	497	c.354C>T	c.(352-354)tcC>tcT	p.S118S	DNAJC16_uc001awu.3_Intron	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN	Homo sapiens agmatine ureohydrolase (agmatinase) (AGMAT), mRNA.	118					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		CAACCATGAGGGACTGGAAGG	0.527000														41			16		0	0	0.004990	0	0
EXTL1	2134	broad.mit.edu	37	1	26361662	26361663	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:26361662_26361663GG>AA	uc001blf.3	+	10	2722_2723	c.1855_1856GG>AA	c.(1855-1857)ggg>AAg	p.G619K		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	Homo sapiens exostoses (multiple)-like 1 (EXTL1), mRNA.	619					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	p.G619G(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TTAGGCGCCTGGGGGCCCGGGG	0.624000														60			38		0	0	0.004672	0	0
TAS1R2	80834	broad.mit.edu	37	1	19181021	19181021	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:19181021C>T	uc001bba.1	-	2	944	c.943G>A	c.(943-945)Gag>Aag	p.E315K		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	315					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TGGCGCAGCTCCGTGAGGTTG	0.657000														37			10		0	0	0.001368	0	0
B3GALT4	8705	broad.mit.edu	37	6	33246190	33246190	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:33246190C>T	uc003odr.3	+	0	1274	c.994C>T	c.(994-996)Cac>Tac	p.H332Y		NM_003782	NP_003773	O96024	B3GT4_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 (B3GALT4), mRNA.	332					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|ganglioside galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GCTGACGTCCCACAGGCTGGA	0.627000														88			45		0	0	0.003610	0	0
ZZEF1	23140	broad.mit.edu	37	17	3977624	3977624	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:3977624G>A	uc002fxe.3	-	23	3569	c.3505C>T	c.(3505-3507)Cct>Tct	p.P1169S		NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	1169							calcium ion binding|zinc ion binding	p.G1168S(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGCAACCGAGGACCGGCCTTG	0.502000											OREG0024096	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		92			45		0	0	0.003214	0	0
TATDN2	9797	broad.mit.edu	37	3	10311938	10311938	+	Missense_Mutation	SNP	C	T	T	rs139610197		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:10311938C>T	uc011atr.2	+	3	1653	c.1072C>T	c.(1072-1074)Ccg>Tcg	p.P358S	TATDN2_uc003bvg.2_Missense_Mutation_p.P358S|TATDN2_uc003bvf.3_Missense_Mutation_p.P358S|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	358			P -> L (in dbSNP:rs2075352).			nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						TTCAGCCGTTCCGGAGCCTTC	0.532000														111			53		0	0	0.003610	0	0
TRPV5	56302	broad.mit.edu	37	7	142609899	142609899	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:142609899G>A	uc003wby.1	-	12	1801	c.1537C>T	c.(1537-1539)Cag>Tag	p.Q513*		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	513					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.F512L(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCCTCTGTCTGGAAAATGATA	0.463000														84			56		0	0	0.003610	0	0
TET3	200424	broad.mit.edu	37	2	74328497	74328497	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:74328497C>T	uc002skb.4	+	8	4177	c.4177C>T	c.(4177-4179)Ccc>Tcc	p.P1393S		NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	1393							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						CTTGGCTGGGCCCAGCCTGAC	0.637000														40			16		0	0	0.004007	0	0
MYH13	8735	broad.mit.edu	37	17	10233724	10233724	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:10233724G>A	uc002gmk.1	-	20	2505	c.2415C>T	c.(2413-2415)ttC>ttT	p.F805F		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	805	IQ.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCATCTTCTTGAACTCCACCC	0.552000														22			5		0	0	0.001168	0	0
HEATR6	63897	broad.mit.edu	37	17	58134512	58134512	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:58134512G>A	uc002iyk.1	-	11	1993	c.1976C>T	c.(1975-1977)tCc>tTc	p.S659F	HEATR6_uc010ddk.1_Missense_Mutation_p.S198F|HEATR6_uc010wos.1_Missense_Mutation_p.S491F	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.	659							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TACGACAATGGAAATGCAGAG	0.557000														87			15		0	0	0.002450	0	0
GTF2E1	2960	broad.mit.edu	37	3	120495385	120495385	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:120495385A>T	uc003edz.4	+	3	880	c.766A>T	c.(766-768)Att>Ttt	p.I256F		NM_005513	NP_005504	P29083	T2EA_HUMAN	Homo sapiens general transcription factor IIE, polypeptide 1, alpha 56kDa (GTF2E1), mRNA.	256					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	p.V255V(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		GAATGTTGTCATTAACATGGA	0.502000														76			38		0	0	0.004289	0	0
EVPL	2125	broad.mit.edu	37	17	74019684	74019684	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:74019684C>T	uc010wss.1	-	2	478	c.250G>A	c.(250-252)Ggc>Agc	p.G84S	EVPL_uc002jqi.2_Missense_Mutation_p.G84S|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	84	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGGCTGCGGCCCGTCTCCTGC	0.667000														10			8		0	0	0.003080	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	103903604	103903604	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:103903604C>T	uc004elz.1	+	1	766	c.10C>T	c.(10-12)Cca>Tca	p.P4S		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	4					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GATGAAGCCACCATTTCTTTT	0.393000														21			30		0	0	0.002445	0	0
ZFAND3	60685	broad.mit.edu	37	6	38029534	38029534	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:38029534C>T	uc003onx.3	+	2	693	c.278C>T	c.(277-279)tCa>tTa	p.S93L		NM_021943	NP_068762	Q9H8U3	ZFAN3_HUMAN	Homo sapiens zinc finger, AN1-type domain 3 (ZFAND3), mRNA.	93							DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						AATGTAACTTCACCGAGTAAA	0.488000														23			21		0	0	0.001882	0	0
XIRP1	165904	broad.mit.edu	37	3	39230591	39230591	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:39230591C>T	uc003cjk.2	-	1	575	c.346G>A	c.(346-348)Gag>Aag	p.E116K	XIRP1_uc003cji.3_Missense_Mutation_p.E116K|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.E116K	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	116							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGCACGGGCTCCTTGGCAGCT	0.607000														56			27		0	0	0.007291	0	0
IL12RB1	3594	broad.mit.edu	37	19	18193031	18193031	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:18193031G>A	uc002nhx.1	-	3	339	c.288C>T	c.(286-288)tcC>tcT	p.S96S	IL12RB1_uc002nhw.1_Silent_p.S56S|IL12RB1_uc010xqb.1_Silent_p.S56S|IL12RB1_uc002nhy.3_Silent_p.S56S	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	56	Fibronectin type-III 1.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						AACGATCACTGGATATCCGAT	0.597000														14			11		0	0	0.000978	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33561138	33561138	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:33561138C>T	uc003jia.1	-	19	4282	c.4119G>A	c.(4117-4119)tgG>tgA	p.W1373*	ADAMTS12_uc010iuq.1_Nonsense_Mutation_p.W1288*	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1373	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTACCTTGCTCCAGTTTCCCA	0.507000										HNSCC(64;0.19)				85			55		0	0	0.003610	0	0
OR4A47	403253	broad.mit.edu	37	11	48510356	48510356	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:48510356G>A	uc010rhx.2	+	0	12	c.12G>A	c.(10-12)agG>agA	p.R4R		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGGAGCCAAGGAAAAATGTGA	0.363000														11			7		0	0	0.004482	0	0
ANKS1A	23294	broad.mit.edu	37	6	35047422	35047422	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:35047422C>A	uc003ojx.4	+	14	2555	c.2413C>A	c.(2413-2415)Ctc>Atc	p.L805I	ANKS1A_uc011dst.2_Missense_Mutation_p.L345I|ANKS1A_uc010jvp.2_Missense_Mutation_p.L179I	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	805	SAM 2.					cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CGTGAAGAACCTCTGGGAGCT	0.612000														55			17		1.02788e-11	1.17774e-11	0.004990	1	0
SETD5	55209	broad.mit.edu	37	3	9512293	9512293	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:9512293C>T	uc003brt.3	+	18	3310	c.2875C>T	c.(2875-2877)Cca>Tca	p.P959S	SETD5_uc003bru.3_Missense_Mutation_p.P861S|SETD5_uc003brv.3_Missense_Mutation_p.P848S|SETD5_uc010hck.3_Missense_Mutation_p.P441S|SETD5_uc003brx.3_Missense_Mutation_p.P628S	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	959										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GACTGGTTTCCCAAGCAGAAG	0.512000														96			46		0	0	0.003610	0	0
CCHCR1	54535	broad.mit.edu	37	6	31122525	31122525	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:31122525G>A	uc003nsp.4	-	3	738	c.549C>T	c.(547-549)atC>atT	p.I183I	CCHCR1_uc011dne.2_Silent_p.I94I|CCHCR1_uc003nsq.4_Silent_p.I147I|CCHCR1_uc003nsr.4_Silent_p.I94I|CCHCR1_uc010jsk.1_Silent_p.I94I	NM_001105564	NP_061925	Q8TD31	CCHCR_HUMAN	Homo sapiens coiled-coil alpha-helical rod protein 1 (CCHCR1), transcript variant 1, mRNA.	94					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	p.T183A(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GCTGCCGAACGATCACCTCAG	0.642000														18			12		0	0	0.002450	0	0
SP110	3431	broad.mit.edu	37	2	231067394	231067394	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:231067394G>A	uc002vqg.3	-	8	1189	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	SP110_uc002vqh.3_Nonsense_Mutation_p.Q317*|SP110_uc002vqi.4_Nonsense_Mutation_p.Q317*|SP110_uc010fxk.3_Nonsense_Mutation_p.Q315*|SP110_uc021vxx.1_Nonsense_Mutation_p.Q323*|SP110_uc010fxj.3_Intron	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.	317					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TGAGGAACCTGATCCACCCTT	0.458000														80			34		0	0	0.004878	0	0
GANC	2595	broad.mit.edu	37	15	42631902	42631902	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:42631902G>A	uc001zpi.3	+	16	2193	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K		NM_198141	NP_937784	Q8TET4	GANC_HUMAN	Homo sapiens glucosidase, alpha; neutral C (GANC), mRNA.	627					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		TCCAGAGACAGAGCTGCTAGT	0.542000														58			18		0	0	0.007413	0	0
KANK4	163782	broad.mit.edu	37	1	62740610	62740610	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:62740610G>A	uc001dah.4	-	2	543	c.166C>T	c.(166-168)Cct>Tct	p.P56S	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	56										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CTGTGGATAGGAATTCTTTTG	0.532000														132			55		0	0	0.003610	0	0
MGAM	8972	broad.mit.edu	37	7	141755373	141755373	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:141755373C>T	uc003vwy.3	+	27	3384	c.3330C>T	c.(3328-3330)ctC>ctT	p.L1110L		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1110	Glucoamylase.				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)	ACTCTCAGCTCCTTGGCTTTA	0.458000														41			109		0	0	0.003610	0	0
APPL1	26060	broad.mit.edu	37	3	57291392	57291392	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:57291392G>C	uc003dio.3	+	14	1513	c.1366G>C	c.(1366-1368)Gac>Cac	p.D456H	APPL1_uc010hnb.3_Missense_Mutation_p.D456H|APPL1_uc011bey.1_Missense_Mutation_p.D439H	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.	456					apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		AATACAGTTTGACATAATTTC	0.502000														69			25		0	0	0.003330	0	0
MGA	23269	broad.mit.edu	37	15	42041639	42041639	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:42041639C>T	uc010ucy.2	+	16	6015	c.5834C>T	c.(5833-5835)gCc>gTc	p.A1945V	MGA_uc010ucz.2_Missense_Mutation_p.A1736V|MGA_uc010uda.1_Missense_Mutation_p.A561V|MGA_uc001zoi.3_Missense_Mutation_p.A159V	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1906						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)		GGTAGTTTTGCCTTGTTACAG	0.448000														34			7		0	0	0.001984	0	0
ZNF133	7692	broad.mit.edu	37	20	18295808	18295809	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:18295808_18295809CC>TT	uc010zrv.1	+	4	525_526	c.322_323CC>TT	c.(322-324)ccc>TTc	p.P108F	ZNF133_uc010gcq.2_Missense_Mutation_p.P105F|ZNF133_uc010zrw.1_Missense_Mutation_p.P42F|ZNF133_uc010gcr.2_Missense_Mutation_p.P105F|ZNF133_uc010zrx.1_Missense_Mutation_p.P10F|ZNF133_uc002wql.4_Missense_Mutation_p.P104F|ZNF133_uc010gcs.3_Missense_Mutation_p.P104F|ZNF133_uc010zry.2_Missense_Mutation_p.P10F|ZNF133_uc002wqm.2_Missense_Mutation_p.P105F	NM_003434	NP_003425	P52736	ZN133_HUMAN	Homo sapiens zinc finger protein 133 (ZNF133), transcript variant 1, mRNA.	105						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						TAATCATCCCCCCTGGATCTTC	0.574000														76			35		0	0	0.004672	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529451	5529451	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:5529451C>T	uc021qcw.1	-	0	1338	c.1338G>A	c.(1336-1338)tcG>tcA	p.S446S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Silent_p.S446S	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	446										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCCAGCCCCGAGACAAGAT	0.542000														49			20		0	0	0.007413	0	0
ODZ3	55714	broad.mit.edu	37	4	183600924	183600924	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:183600924C>T	uc003ivd.1	+	6	1507	c.1432C>T	c.(1432-1434)Cat>Tat	p.H478Y	ODZ3_uc003ive.1_5'Flank	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	478					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CGTCAGCCTTCATGAGGCCGG	0.532000														34			19		0	0	0.008871	0	0
AFF2	2334	broad.mit.edu	37	X	148037297	148037297	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:148037297G>A	uc004fcp.3	+	10	2201	c.1722G>A	c.(1720-1722)acG>acA	p.T574T	AFF2_uc004fcq.3_Silent_p.T564T|AFF2_uc004fcr.3_Silent_p.T535T|AFF2_uc011mxb.2_Silent_p.T539T|AFF2_uc004fcs.3_Silent_p.T541T|AFF2_uc011mxc.2_Silent_p.T215T	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	574					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.T574T(3)|p.T215T(1)|p.T574M(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAGTGAAGACGAATGCCAGTC	0.473000														45			93		0	0	0.003610	0	0
ANK3	288	broad.mit.edu	37	10	61833102	61833102	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:61833102C>T	uc001jky.3	-	36	7875	c.7537G>A	c.(7537-7539)Gaa>Aaa	p.E2513K	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2513					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAGAGAATTTCTTTTTTGGGG	0.418000														41			29		0	0	0.002445	0	0
RGAG1	57529	broad.mit.edu	37	X	109694939	109694939	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:109694939C>T	uc004eor.2	+	2	1340	c.1094C>T	c.(1093-1095)cCa>cTa	p.P365L	RGAG1_uc011msr.1_Missense_Mutation_p.P365L	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	365										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CAAACGATGCCAGCCCCAGGC	0.542000														81			105		0	0	0.003610	0	0
MRAP	56246	broad.mit.edu	37	21	33684140	33684140	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:33684140G>A	uc002ypj.3	+	4	539	c.352G>A	c.(352-354)Ggc>Agc	p.G118S	MRAP_uc002ypk.3_Intron|URB1_uc002ypn.2_3'UTR|MRAP_uc011ado.2_Missense_Mutation_p.G59S|MRAP_uc002ypl.3_Missense_Mutation_p.G118S	NM_178817	NP_848932	Q8TCY5	MRAP_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein (MRAP), transcript variant 1, mRNA.	118					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			endometrium(1)|large_intestine(2)|lung(3)	6						GAGCAGAACTGGCCCTGACCA	0.647000														23			10		0	0	0.008291	0	0
ENPP1	5167	broad.mit.edu	37	6	132173319	132173319	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:132173319G>A	uc011ecf.2	+	4	581	c.561G>A	c.(559-561)gaG>gaA	p.E187E		NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	187	SMB 2.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTTTAGGTGAGAAAAGTTGGG	0.318000														51			31		0	0	0.003755	0	0
COL1A1	1277	broad.mit.edu	37	17	48263204	48263204	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:48263204C>T	uc002iqm.3	-	49	4309	c.4183G>A	c.(4183-4185)Gag>Aag	p.E1395K	DD181999_uc021tzy.1_5'Flank	NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	1395	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.E1395*(2)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ATCTCGATCTCGTTGGAGCCC	0.627000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							34			19		0	0	0.010504	0	0
BCL9L	283149	broad.mit.edu	37	11	118770898	118770898	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:118770898G>A	uc001pug.3	-	6	4099	c.3134C>T	c.(3133-3135)cCg>cTg	p.P1045L	BCL9L_uc009zal.3_Missense_Mutation_p.P1040L	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	1045	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCCGCTAGGCGGGAGGGTACC	0.627000														25			13		0	0	0.003163	0	0
DOK7	285489	broad.mit.edu	37	4	3478185	3478185	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:3478185G>A	uc003ghd.3	+	3	518	c.448G>A	c.(448-450)Ggg>Agg	p.G150R	DOK7_uc003ghe.3_Missense_Mutation_p.G150R	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA.	150	IRS-type PTB.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGCTGTCACGGGGCAGTGGAA	0.627000														66			13		0	0	0.003163	0	0
TPGS2	25941	broad.mit.edu	37	18	34398865	34398865	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:34398865A>G	uc002kzw.1	-	1	585	c.157T>C	c.(157-159)Tgg>Cgg	p.W53R	TPGS2_uc010xci.1_Missense_Mutation_p.W53R|TPGS2_uc002kzx.1_Missense_Mutation_p.W53R|TPGS2_uc002kzy.3_Missense_Mutation_p.W53R	NM_015476	NP_056291	Q68CL5	TPGS2_HUMAN	Homo sapiens tubulin polyglutamylase complex subunit 2 (TPGS2), mRNA.	53						cytoplasm|microtubule											ACTTGTTCCCAGGAAGAAATC	0.433000														77			38		0	0	0.002852	0	0
ZBBX	79740	broad.mit.edu	37	3	166960382	166960382	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:166960382G>A	uc011bpc.2	-	20	2641	c.2304C>T	c.(2302-2304)ttC>ttT	p.F768F	ZBBX_uc003feq.3_Silent_p.F700F|ZBBX_uc003fep.3_Silent_p.F729F	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	729						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ATTGGCTGCTGAAATCTGGGA	0.368000														36			16		0	0	0.007413	0	0
UBR5	51366	broad.mit.edu	37	8	103372302	103372302	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:103372302A>G	uc003ykr.2	-	4	838	c.383T>C	c.(382-384)tTa>tCa	p.L128S	UBR5_uc003yks.2_Missense_Mutation_p.L128S	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	128					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AACTTACCCTAAGGTGTTGCC	0.507000														39			14		0	0	0.002450	0	0
DYRK2	8445	broad.mit.edu	37	12	68051584	68051584	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:68051584G>A	uc001str.4	+	2	1299	c.897G>A	c.(895-897)atG>atA	p.M299I	DYRK2_uc001sts.4_Missense_Mutation_p.M226I|DYRK2_uc021raa.1_Missense_Mutation_p.M226I	NM_006482	NP_003574	Q92630	DYRK2_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 (DYRK2), transcript variant 2, mRNA.	299	Protein kinase.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		ACATCTGCATGACGTTTGAGC	0.473000														920			21		0	0	0.002780	0	0
TTN	7273	broad.mit.edu	37	2	179585824	179585824	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179585824G>A	uc021vsy.1	-	75	19415	c.19190C>T	c.(19189-19191)tCa>tTa	p.S6397L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3058L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7324	Ig-like 45.						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)			TCGGAACCATGAAACTTTGAT	0.373000														90			35		0	0	0.002836	0	0
MUC16	94025	broad.mit.edu	37	19	9049121	9049121	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9049121C>T	uc002mkp.3	-	4	32714	c.32510G>A	c.(32509-32511)tGg>tAg	p.W10837*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10839	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						GGAAGTTGTCCAGGGAACTGT	0.473000														95			39		0	0	0.004878	0	0
DHX16	8449	broad.mit.edu	37	6	30638993	30638993	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:30638993G>A	uc003nqz.3	-	1	478	c.266C>T	c.(265-267)gCc>gTc	p.A89V	DHX16_uc011dmo.2_Missense_Mutation_p.A29V	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	89					RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						CTCCAGCAGGGCCCGGGCCTC	0.552000														223			103		0	0	0.003610	0	0
TRIM27	5987	broad.mit.edu	37	6	28888011	28888011	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:28888011G>A	uc003nlr.3	-	2	884	c.525C>T	c.(523-525)acC>acT	p.T175T	TRIM27_uc003nls.3_Silent_p.T175T|TRIM27_uc003nlt.1_Silent_p.T175T	NM_006510	NP_006501	P14373	TRI27_HUMAN	Homo sapiens tripartite motif containing 27 (TRIM27), mRNA.	175					cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	PML body|cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TCTCCATCTGGGTTAGGCTCT	0.507000			T	RET	papillary thyroid									101			32		0	0	0.003755	0	0
GPR20	2843	broad.mit.edu	37	8	142367016	142367016	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:142367016G>A	uc022bby.1	-	0	1008	c.1008C>T	c.(1006-1008)ggC>ggT	p.G336G	GPR20_uc003ywf.3_Silent_p.G336G	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	336						integral to plasma membrane	G-protein coupled receptor activity	p.G336D(1)		NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			TGTGATGACGGCCTGAGCCCT	0.677000														29			18		0	0	0.007413	0	0
ELAVL3	1995	broad.mit.edu	37	19	11569055	11569055	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:11569055C>T	uc002mry.1	-	4	914	c.534G>A	c.(532-534)gaG>gaA	p.E178E	ELAVL3_uc002mrx.1_Silent_p.E178E	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C) (ELAVL3), transcript variant 1, mRNA.	178	RRM 2.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						CCTCTTCGGCCTCAATCCTCT	0.592000														33			11		0	0	0.008291	0	0
GLIS1	148979	broad.mit.edu	37	1	53972352	53972352	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:53972352G>A	uc001cvr.1	-	9	2370	c.1803C>T	c.(1801-1803)ttC>ttT	p.F601F		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	601					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CTCCATTGGGGAAGAAGCCAC	0.627000														69			27		0	0	0.002096	0	0
CYP2C19	1557	broad.mit.edu	37	10	96454799	96454799	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:96454799G>A	uc001kjv.4	+	3	933	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	CYP2C19_uc001kjw.4_Missense_Mutation_p.E203K|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	203					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AAAATTCAATGAAAACCTCAG	0.378000														19			8		0	0	0.004482	0	0
GALNT4	8693	broad.mit.edu	37	12	89917186	89917186	+	Silent	SNP	G	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:89917186G>T	uc001tbd.3	-	0	1398	c.1141C>A	c.(1141-1143)Cgg>Agg	p.R381R	GALNT4_uc001tba.3_Intron|GALNT4_uc001tbb.3_Intron|GALNT4_uc010sun.2_Intron|GALNT4_uc001tbc.3_Intron|GALNT4_uc001tbe.3_Silent_p.R378R|GALNT4_uc010suo.2_Silent_p.R209R	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4) (GALNT4), mRNA.	381					carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						TCTGCTGCCCGAGCAGTATTC	0.473000														31			24		5.35356e-11	6.12941e-11	0.002780	1	0
COL6A3	1293	broad.mit.edu	37	2	238283530	238283530	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:238283530G>A	uc002vwl.2	-	7	3489	c.3204C>T	c.(3202-3204)gcC>gcT	p.A1068A	COL6A3_uc002vwo.2_Silent_p.A862A|COL6A3_uc010znj.1_Silent_p.A461A|COL6A3_uc002vwq.3_Silent_p.A862A|COL6A3_uc002vwr.3_Silent_p.A661A	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1068	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACTGCACCACGGCCACGCGGA	0.607000														33			13		0	0	0.002450	0	0
CCDC81	60494	broad.mit.edu	37	11	86097144	86097144	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:86097144C>T	uc001pbx.2	+	1	559	c.131C>T	c.(130-132)aCc>aTc	p.T44I	CCDC81_uc001pbw.2_Missense_Mutation_p.T44I	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	Homo sapiens coiled-coil domain containing 81 (CCDC81), transcript variant 1, mRNA.	44										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CGGCAGTTAACCCTGCACAAG	0.289000														15			7		0	0	0.003080	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138197164	138197164	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:138197164C>T	uc003qhr.3	+	4	732	c.666C>T	c.(664-666)tcC>tcT	p.S222S	TNFAIP3_uc003qhs.3_Silent_p.S222S|TNFAIP3_uc021zfv.1_Intron	NM_006290	NP_006281	P21580	TNAP3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 3 (TNFAIP3), mRNA.	222	OTU.|TRAF-binding.				B-1 B cell homeostasis|anti-apoptosis|apoptosis|negative regulation of B cell activation|negative regulation of CD40 signaling pathway|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of bone resorption|negative regulation of endothelial cell apoptosis|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	DNA binding|caspase inhibitor activity|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		AATCAGGTTCCAATTTCGCCC	0.443000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""									62			20		0	0	0.002299	0	0
AGXT2L1	64850	broad.mit.edu	37	4	109680978	109680978	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:109680978T>C	uc003hzc.3	-	2	443	c.262A>G	c.(262-264)Att>Gtt	p.I88V	AGXT2L1_uc010imc.3_Missense_Mutation_p.I82V|AGXT2L1_uc011cfm.2_Missense_Mutation_p.I48V|AGXT2L1_uc011cfn.2_Missense_Mutation_p.I15V|AGXT2L1_uc011cfo.2_Missense_Mutation_p.I30V	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA.	88					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		TACTCAACAATGTTGTCGTGG	0.443000														28			16		0	0	0.004990	0	0
POTED	317754	broad.mit.edu	37	GL000213.1	108129	108129	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrGL000213.1:108129T>C	uc011mfl.1	-	10	1700	c.1652A>G	c.(1651-1653)gAa>gGa	p.E551G		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	551						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						AATTTTATTTTCCCTTAGCTG	0.358000														27			16		0	0	0.003330	0	0
DAAM1	23002	broad.mit.edu	37	14	59798110	59798110	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:59798110C>T	uc001xdz.1	+	13	1869	c.1744C>T	c.(1744-1746)Ccc>Tcc	p.P582S	DAAM1_uc001xea.1_Missense_Mutation_p.P582S	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA.	582	FH1.|Pro-rich.				actin cytoskeleton organization	cytoplasm|plasma membrane	Rho GTPase binding|actin binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		AGGGCCTCCTCCCTTAGGGGC	0.622000														34			14		0	0	0.001855	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100147685	100147685	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:100147685A>G	uc003knk.3	-	4	1274	c.946T>C	c.(946-948)Tat>Cat	p.Y316H		NM_005668	NP_005659	Q92187	SIA8D_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA.	316					N-glycan processing|axon guidance	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TCATCATAATAATGATATTTG	0.358000														33			15		0	0	0.003163	0	0
ART5	116969	broad.mit.edu	37	11	3660014	3660014	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:3660014C>T	uc001lyb.1	-	3	1223	c.830G>A	c.(829-831)gGa>gAa	p.G277E	ART5_uc001lyc.1_Missense_Mutation_p.G277E|ART5_uc001lyd.3_3'UTR|ART5_uc009yea.3_3'UTR	NM_053017	NP_443750	Q96L15	NAR5_HUMAN	Homo sapiens ADP-ribosyltransferase 5 (ART5), transcript variant 1, mRNA.	277						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCACCCGTTCCCAGGGCTCC	0.592000														57			36		0	0	0.007835	0	0
TNS3	64759	broad.mit.edu	37	7	47454705	47454705	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	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														16			14		0	0	0.002450	0	0
CST8	10047	broad.mit.edu	37	20	23476513	23476513	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:23476513G>A	uc002wth.1	+	3	748	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K		NM_005492	NP_005483	O60676	CST8_HUMAN	Homo sapiens cystatin 8 (cystatin-related epididymal specific) (CST8), mRNA.	131						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CTGGAATGGTGAATTCACTGT	0.368000														62			21		0	0	0.003954	0	0
OR6C74	254783	broad.mit.edu	37	12	55641320	55641320	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:55641320G>A	uc010spg.2	+	0	249	c.249G>A	c.(247-249)atG>atA	p.M83I		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 74 (OR6C74), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TTGTTAGTATGGCAACAGGTG	0.388000														163			62		0	0	0.003610	0	0
EXPH5	23086	broad.mit.edu	37	11	108409889	108409889	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:108409889C>T	uc001pkk.3	-	2	416	c.305G>A	c.(304-306)aGa>aAa	p.R102K	EXPH5_uc010rvz.2_5'Flank|EXPH5_uc010rvy.2_5'Flank	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	102					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ATTTTTAGATCTTGATGTAGG	0.338000														49			27		0	0	0.007291	0	0
CCDC87	55231	broad.mit.edu	37	11	66359372	66359372	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:66359372G>A	uc001oiq.4	-	0	1183	c.1115C>T	c.(1114-1116)cCa>cTa	p.P372L	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	372										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GTCCAGTGGTGGGTAGCGAGT	0.577000														59			13		0	0	0.004007	0	0
PARP14	54625	broad.mit.edu	37	3	122399887	122399887	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:122399887C>T	uc003efq.4	+	0	216	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C		NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GAGCCCATCCCGCTTCCTGGT	0.657000														34			17		0	0	0.003954	0	0
DNAH17	8632	broad.mit.edu	37	17	76522762	76522762	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:76522762C>T	uc010dhp.2	-	23	3807	c.3682G>A	c.(3682-3684)Gac>Aac	p.D1228N		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGGTTGGGGTCGCTGAAGGAG	0.537000														18			8		0	0	0.006214	0	0
LTBP1	4052	broad.mit.edu	37	2	33500068	33500068	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:33500068C>T	uc021vft.1	+	16	2803	c.2780C>T	c.(2779-2781)tCc>tTc	p.S927F	LTBP1_uc002rou.3_Missense_Mutation_p.S601F|LTBP1_uc002rov.3_Missense_Mutation_p.S548F|LTBP1_uc010ymz.2_Missense_Mutation_p.S601F|LTBP1_uc010yna.2_Missense_Mutation_p.S548F	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	927	EGF-like 5; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.L926I(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CACCTCTGCTCCCAGGGCCGC	0.438000														52			23		0	0	0.002299	0	0
ZNF81	347344	broad.mit.edu	37	X	47775930	47775930	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:47775930C>T	uc022bvq.1	+	4	2134	c.1885C>T	c.(1885-1887)Cag>Tag	p.Q629*	ZNF81_uc010nhy.2_Nonsense_Mutation_p.Q629*	NM_007137	NP_009068	P51508	ZNF81_HUMAN	Homo sapiens zinc finger protein 81 (ZNF81), mRNA.	629						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				CAATAAACATCAGACAATTCA	0.393000														5			10		0	0	0.000978	0	0
HORMAD1	84072	broad.mit.edu	37	1	150672618	150672618	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:150672618C>T	uc001evk.2	-	13	1192	c.1074G>A	c.(1072-1074)cgG>cgA	p.R358R	GOLPH3L_uc001evj.2_5'Flank|GOLPH3L_uc010pci.1_5'Flank|HORMAD1_uc001evl.2_Silent_p.R351R|HORMAD1_uc001evm.2_Silent_p.R278R	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	Homo sapiens HORMA domain containing 1 (HORMAD1), transcript variant 1, mRNA.	358					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus		p.R358W(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GACTTCTCTTCCGATTTTCTT	0.318000														23			17		0	0	0.007413	0	0
BOD1L2	284257	broad.mit.edu	37	18	54814936	54814936	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:54814936C>T	uc002lgm.3	+	0	644	c.393C>T	c.(391-393)atC>atT	p.I131I						Homo sapiens biorientation of chromosomes in cell division 1 pseudogene (BOD1P), non-coding RNA.																		TAAACCACATCTTCAGGCCAC	0.517000														25			4		0	0	0.000602	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160672034	160672034	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:160672034G>A	uc002ubb.4	-	30	4505	c.4431C>T	c.(4429-4431)atC>atT	p.I1477I	LY75-CD302_uc010fos.3_Silent_p.I1477I|LY75-CD302_uc002ubc.4_Silent_p.I1477I	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	1477	C-type lectin 9.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										CTTTCCATGGGATATAGTCAA	0.373000														30			26		0	0	0.009535	0	0
NYAP2	57624	broad.mit.edu	37	2	226446871	226446871	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:226446871C>T	uc002voe.2	+	3	913	c.738C>T	c.(736-738)atC>atT	p.I246I	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Silent_p.I16I	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	246																	CCGTGTACATCGAGATGGTGG	0.602000														126			34		0	0	0.002445	0	0
CYP11A1	1583	broad.mit.edu	37	15	74630921	74630921	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:74630921G>A	uc002axt.2	-	7	1580	c.1425C>T	c.(1423-1425)ttC>ttT	p.F475F	CYP11A1_uc002axs.2_Silent_p.F317F|CYP11A1_uc010bjm.1_Silent_p.F317F|CYP11A1_uc010bjn.1_Non-coding_Transcript	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	475					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	CATTGATGAGGAAGATGGTCA	0.567000														61			89		0	0	0.003610	0	0
DNAH3	55567	broad.mit.edu	37	16	20975497	20975497	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:20975497C>T	uc010vbe.2	-	52	9709	c.9709G>A	c.(9709-9711)Gaa>Aaa	p.E3237K	DNAH3_uc010vbd.2_Missense_Mutation_p.E672K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3237	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCTTCAATTTCCTTGAGATGC	0.468000														60			49		0	0	0.003610	0	0
ABCB11	8647	broad.mit.edu	37	2	169788930	169788930	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:169788930C>T	uc002ueo.1	-	23	3296	c.3170G>A	c.(3169-3171)cGa>cAa	p.R1057Q	ABCB11_uc010zda.1_Missense_Mutation_p.R499Q|ABCB11_uc010zdb.1_Missense_Mutation_p.R533Q	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1057					bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TGGGGGTTGTCGGTCCAGCAG	0.433000														7			3		0	0	0.004672	0	0
PALLD	23022	broad.mit.edu	37	4	169632945	169632945	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:169632945G>A	uc011cjx.2	+	9	2046	c.1835G>A	c.(1834-1836)gGa>gAa	p.G612E	PALLD_uc003iru.3_Missense_Mutation_p.G612E|PALLD_uc003irv.3_Missense_Mutation_p.G230E	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	612					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GAAACGAACGGAGTCCATCCC	0.493000									Pancreatic Cancer, Familial Clustering of					52			14		0	0	0.001855	0	0
C15orf33	196951	broad.mit.edu	37	15	49663592	49663592	+	Silent	SNP	G	A	A	rs145082626		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:49663592G>A	uc001zxl.2	-	11	1311	c.1017C>T	c.(1015-1017)atC>atT	p.I339I		NM_152647	NP_689860	Q96M60	CO033_HUMAN	Homo sapiens chromosome 15 open reading frame 33 (C15orf33), mRNA.	339										endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	25		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		TATTGAAGTCGATACCTAAAA	0.328000														87			14		0	0	0.003163	0	0
UTP20	27340	broad.mit.edu	37	12	101715375	101715375	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:101715375C>T	uc001tia.1	+	24	3165	c.3009C>T	c.(3007-3009)gcC>gcT	p.A1003A		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	1003					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGAAAACAGCCCACCGAGCAG	0.333000														37			13		0	0	0.002450	0	0
C9orf47	286223	broad.mit.edu	37	9	91606093	91606093	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:91606093G>A	uc004aqd.3	+	0	316	c.183G>A	c.(181-183)gaG>gaA	p.E61E	S1PR3_uc004aqe.3_5'Flank|C9orf47_uc004aqc.2_Silent_p.E61E	NM_001001938	NP_001001938	Q6ZRZ4	CI047_HUMAN	Homo sapiens chromosome 9 open reading frame 47 (C9orf47), transcript variant 1, mRNA.	61						extracellular region				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						CGCCCGATGAGGACAAGGTCT	0.701000														6			3		0	0	0.009096	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999848	46999848	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:46999848C>G	uc001jec.3	+	2	1103	c.968C>G	c.(967-969)gCc>gGc	p.A323G	GPRIN2_uc021ppt.1_Missense_Mutation_p.A323G	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	323										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AATGACTTGGCCCCTGCAGAG	0.647000														46			14		0	0	0.004007	0	0
VPREB1	7441	broad.mit.edu	37	22	22599436	22599436	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:22599436C>T	uc002zvx.1	+	1	151	c.125C>T	c.(124-126)aCc>aTc	p.T42I	abParts_uc021wml.1_Intron	NM_007128	NP_009059	P12018	VPREB_HUMAN	Homo sapiens pre-B lymphocyte 1 (VPREB1), mRNA.	42	Complementarity-determining-1.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding			large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		CTCACCTGCACCCTGAGGAAC	0.597000														67			35		0	0	0.006230	0	0
PIM2	11040	broad.mit.edu	37	X	48776077	48776078	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:48776077_48776078GG>AA	uc004dls.3	-	0	336_337	c.34_35CC>TT	c.(34-36)ccc>TTc	p.P12F		NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN	Homo sapiens pim-2 oncogene (PIM2), mRNA.	12					anti-apoptosis|cell proliferation|male meiosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of autophagy|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						GGTCCCGGGGGGCGCGGGAGGC	0.703000														11			19		0	0	0.004672	0	0
RHOV	171177	broad.mit.edu	37	15	41165486	41165486	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:41165486C>T	uc001znd.3	-	2	631	c.481G>A	c.(481-483)Ggc>Agc	p.G161S		NM_133639	NP_598378	Q96L33	RHOV_HUMAN	Homo sapiens ras homolog gene family, member V (RHOV), mRNA.	161					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding			central_nervous_system(1)|large_intestine(1)	2		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CCCTCCCGGCCCCCCTGGTCC	0.652000														39			21		0	0	0.002299	0	0
TTN	7273	broad.mit.edu	37	2	179595373	179595373	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179595373C>T	uc021vsy.1	-	57	14380	c.14155G>A	c.(14155-14157)Gaa>Aaa	p.E4719K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1380K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5646	Ig-like 27.						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)			TTGTACTTTTCACTAGCTGAT	0.398000														66			39		0	0	0.005524	0	0
RP1L1	94137	broad.mit.edu	37	8	10480260	10480260	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:10480260G>A	uc003wtc.3	-	1	681	c.452C>T	c.(451-453)cCc>cTc	p.P151L		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	151					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TATCCTCCGGGGGGTTTTAAG	0.582000														62			29		0	0	0.008361	0	0
NTRK1	4914	broad.mit.edu	37	1	156845919	156845919	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:156845919G>A	uc001fqh.1	+	12	1605	c.1549G>A	c.(1549-1551)Ggg>Agg	p.G517R	NTRK1_uc001fqf.1_Missense_Mutation_p.G481R|NTRK1_uc009wsi.1_Missense_Mutation_p.G216R|NTRK1_uc001fqi.1_Missense_Mutation_p.G511R|NTRK1_uc009wsk.1_Missense_Mutation_p.G514R	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	517	Protein kinase.				Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GTGGGAGCTGGGGGAGGGCGC	0.637000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				56			12		0	0	0.001855	0	0
OR4D9	390199	broad.mit.edu	37	11	59283128	59283128	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:59283128C>T	uc010rkv.2	+	0	743	c.743C>T	c.(742-744)aCc>aTc	p.T248I		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						ACCGTGGTGACCCTGCATTTC	0.557000														132			38		0	0	0.006999	0	0
IGSF21	84966	broad.mit.edu	37	1	18691906	18691906	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:18691906G>A	uc001bau.2	+	5	1113	c.730G>A	c.(730-732)Gag>Aag	p.E244K	IGSF21_uc001bav.2_Missense_Mutation_p.E65K	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	244						extracellular region		p.T243T(1)		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)		ACCCTACACGGAGCGCCCCTC	0.637000														80			30		0	0	0.009535	0	0
LILRB1	10859	broad.mit.edu	37	19	55147030	55147030	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:55147030G>A	uc002qgj.3	+	13	1960	c.1620G>A	c.(1618-1620)caG>caA	p.Q540Q	LILRB1_uc010erp.1_Silent_p.Q155Q|LILRB1_uc002qgl.3_Silent_p.Q540Q|LILRB1_uc002qgk.3_Silent_p.Q541Q|LILRB1_uc002qgm.3_Silent_p.Q541Q|LILRB1_uc010erq.3_Silent_p.Q524Q|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	540					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AGCACACACAGCCTGAGGATG	0.607000										HNSCC(37;0.09)				94			42		0	0	0.003610	0	0
NAIP	4671	broad.mit.edu	37	5	70308419	70308419	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:70308419G>A	uc003kar.1	-	3	1042	c.324C>T	c.(322-324)ggC>ggT	p.G108G	NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Silent_p.G108G|NAIP_uc003kas.1_Intron	NM_004536	NP_004527	Q13075	BIRC1_HUMAN	Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 1, mRNA.	108					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GTCTCGTGAGGCCGGCACCAA	0.498000														42			23		0	0	0.003330	0	0
CASQ2	845	broad.mit.edu	37	1	116283393	116283393	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:116283393C>T	uc001efx.4	-	2	640	c.376G>A	c.(376-378)Gat>Aat	p.D126N	CASQ2_uc010owu.2_Intron	NM_001232	NP_001223	O14958	CASQ2_HUMAN	Homo sapiens calsequestrin 2 (cardiac muscle) (CASQ2), nuclear gene encoding mitochondrial protein, mRNA.	126					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AACTCGCCATCAAACTCTATT	0.448000														18			17		0	0	0.001882	0	0
PRPF6	24148	broad.mit.edu	37	20	62658990	62658990	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:62658990T>G	uc002yho.3	+	16	2408	c.2240T>G	c.(2239-2241)cTt>cGt	p.L747R	PRPF6_uc002yhp.3_Missense_Mutation_p.L707R	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	747					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					CCCCTGTGGCTTTTGCTCTCT	0.542000														183			18		0	0	0.007413	0	0
FMNL3	91010	broad.mit.edu	37	12	50045807	50045807	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:50045807G>A	uc001ruv.1	-	13	1746	c.1512C>T	c.(1510-1512)gaC>gaT	p.D504D	FMNL3_uc001ruw.1_Silent_p.D453D|FMNL3_uc001rut.1_Silent_p.D70D|FMNL3_uc001ruu.1_Silent_p.D354D	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	Homo sapiens formin-like 3 (FMNL3), transcript variant 1, mRNA.	504	Pro-rich.				actin cytoskeleton organization		Rho GTPase binding|actin binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GAGCCAGAAGGTCCAGGTCGG	0.662000														10			4		0	0	0.009096	0	0
USP21	27005	broad.mit.edu	37	1	161133953	161133953	+	Splice_Site	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:161133953G>A	uc010pkc.2	+	10	1596	c.1219_splice	c.e10-1	p.K407_splice	USP21_uc010pkd.2_Splice_Site_p.K407_splice|USP21_uc021pbv.1_5'Flank|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc001fyi.2_5'Flank|PPOX_uc010pkh.1_5'Flank	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	407					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TTTTCCCCCAGAAAGGATTTG	0.478000														48			10		0	0	0.006214	0	0
SLC34A2	10568	broad.mit.edu	37	4	25675988	25675988	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:25675988C>T	uc003grr.3	+	10	1368	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	SLC34A2_uc003grs.3_Silent_p.I428I|SLC34A2_uc010iev.3_Silent_p.I428I	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	429					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)				TGACCTTCATCGTACAGAGCA	0.562000			T	ROS1	NSCLC									87			12		0	0	0.001855	0	0
TCP11	6954	broad.mit.edu	37	6	35089948	35089948	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:35089948C>T	uc003okd.2	-	4	744	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	TCP11_uc003ojz.1_Missense_Mutation_p.R113Q|TCP11_uc003oka.2_Missense_Mutation_p.R113Q|TCP11_uc003okb.2_Missense_Mutation_p.R112Q|TCP11_uc011dsu.1_Missense_Mutation_p.R170Q|TCP11_uc003okc.2_Missense_Mutation_p.R112Q|TCP11_uc011dsv.1_Missense_Mutation_p.R137Q|TCP11_uc011dsw.1_Missense_Mutation_p.R142Q	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	Homo sapiens t-complex 11 homolog (mouse) (TCP11), transcript variant 1, mRNA.	175					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						TGCTTCATCTCGAACTGGTGC	0.478000														72			20		0	0	0.010504	0	0
RBMS2	5939	broad.mit.edu	37	12	56965498	56965498	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:56965498C>T	uc001sln.2	+	4	600	c.401C>T	c.(400-402)cCc>cTc	p.P134L	RBMS2_uc010sqp.1_Intron|RBMS2_uc010sqq.1_Missense_Mutation_p.P9L|RBMS2_uc009zou.2_5'UTR	NM_002898	NP_002889	Q15434	RBMS2_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 2 (RBMS2), mRNA.	134					RNA processing	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						GAACAGGACCCCACAAATTTA	0.493000														57			19		0	0	0.002780	0	0
GPR98	84059	broad.mit.edu	37	5	89924421	89924421	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:89924421G>A	uc003kju.3	+	7	1377	c.1281G>A	c.(1279-1281)ggG>ggA	p.G427G	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	427					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAACCCATGGGAATGTCTCTG	0.403000														44			21		0	0	0.001882	0	0
LSM14B	149986	broad.mit.edu	37	20	60705335	60705335	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:60705335C>T	uc010gjy.1	+	4	862	c.656C>T	c.(655-657)cCt>cTt	p.P219L	LSM14B_uc010gjx.1_Missense_Mutation_p.P245L|LSM14B_uc010gjz.1_Missense_Mutation_p.P175L|LSM14B_uc010zzz.1_Missense_Mutation_p.P139L	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	Homo sapiens LSM14B, SCD6 homolog B (S. cerevisiae) (LSM14B), mRNA.	219					multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			AACAGAAGACCTCAGAGGAGG	0.547000														6			9		0	0	0.006214	0	0
MUC6	4588	broad.mit.edu	37	11	1019291	1019291	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:1019291C>T	uc001lsw.2	-	29	4065	c.4014G>A	c.(4012-4014)ggG>ggA	p.G1338G		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1338	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGGGCTTGTCCCTGATGTGG	0.617000														26			12		0	0	0.001855	0	0
OBSCN	84033	broad.mit.edu	37	1	228451840	228451840	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:228451840G>A	uc009xez.1	+	15	4653	c.4609G>A	c.(4609-4611)Gag>Aag	p.E1537K	OBSCN_uc001hsn.3_Missense_Mutation_p.E1537K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1537	Ig-like 16.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTTTGCCAAGGAGCAGCCAGC	0.652000														28			7		0	0	0.003080	0	0
ZNF274	10782	broad.mit.edu	37	19	58721332	58721332	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:58721332C>T	uc002qrq.1	+	6	1201	c.742C>T	c.(742-744)Cct>Tct	p.P248S	ZNF274_uc010yhu.1_Non-coding_Transcript|ZNF274_uc010yhv.1_Non-coding_Transcript|ZNF274_uc002qrr.1_Missense_Mutation_p.P216S|ZNF274_uc002qrs.1_Missense_Mutation_p.P143S|ZNF274_uc010eum.1_Missense_Mutation_p.P8S	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA.	249					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		CCCAGTACTTCCTGCAGGACA	0.647000														18			10		0	0	0.000978	0	0
DHX34	9704	broad.mit.edu	37	19	47885322	47885322	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:47885322C>T	uc010xyn.2	+	16	3733	c.3384C>T	c.(3382-3384)ttC>ttT	p.F1128F	DHX34_uc010xyo.1_Silent_p.F257F	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	1128						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GGAAGGACTTCCTCTTTACAC	0.642000														34			21		0	0	0.002299	0	0
KIF26A	26153	broad.mit.edu	37	14	104641820	104641820	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:104641820C>T	uc001yos.4	+	11	2695	c.2695C>T	c.(2695-2697)Cct>Tct	p.P899S		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	899					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TGCCAGCACCCCTCGAGGCAG	0.697000														9			5		0	0	0.000602	0	0
SSRP1	6749	broad.mit.edu	37	11	57099700	57099701	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:57099700_57099701GG>AA	uc001njt.3	-	7	1193_1194	c.926_927CC>TT	c.(925-927)tcc>tTT	p.S309F		NM_003146	NP_003137	Q08945	SSRP1_HUMAN	Homo sapiens structure specific recognition protein 1 (SSRP1), mRNA.	309					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	p.S309S(2)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TCTCATAGAGGGATCCTGACAT	0.530000														59			13		0	0	0.004672	0	0
PDCD1LG2	80380	broad.mit.edu	37	9	5534921	5534921	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:5534921G>A	uc011lmc.2	+	2	505	c.232G>A	c.(232-234)Gag>Aag	p.E78K	PLGRKT_uc003zjd.3_Intron|PDCD1LG2_uc003zjg.4_Missense_Mutation_p.E78K|PDCD1LG2_uc011lmd.2_Missense_Mutation_p.E78K|PDCD1LG2_uc010mhp.1_Missense_Mutation_p.E78K|PDCD1LG2_uc010mho.1_Missense_Mutation_p.E78K	NM_025239	NP_079515	Q9BQ51	PD1L2_HUMAN	Homo sapiens programmed cell death 1 ligand 2 (PDCD1LG2), mRNA.	78	Ig-like V-type.				T cell costimulation|immune response	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		TTTGCTGGAGGAGCAGCTGCC	0.512000														28			117		0	0	0.003610	0	0
ATR	545	broad.mit.edu	37	3	142272230	142272230	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:142272230C>T	uc003eux.4	-	12	2766	c.2644G>A	c.(2644-2646)Gga>Aga	p.G882R		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	882					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.K881R(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ACCAAATCTCCTTTTGCGGCC	0.388000								Other conserved DNA damage response genes						28			13		0	0	0.003163	0	0
ROBO2	6092	broad.mit.edu	37	3	77666749	77666749	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:77666749G>A	uc011bgk.2	+	22	4034	c.3391G>A	c.(3391-3393)Gat>Aat	p.D1131N	ROBO2_uc021xat.1_Missense_Mutation_p.D1143N|ROBO2_uc003dpy.4_Missense_Mutation_p.D1127N|ROBO2_uc003dpz.3_Missense_Mutation_p.D1131N|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Missense_Mutation_p.D254N	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1127					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGAAGATGATGATAGGGTCCC	0.488000														73			18		0	0	0.006122	0	0
DOCK8	81704	broad.mit.edu	37	9	340236	340236	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:340236C>T	uc003zgf.2	+	13	1706	c.1594C>T	c.(1594-1596)Ccc>Tcc	p.P532S	DOCK8_uc011lls.1_Missense_Mutation_p.P532S|DOCK8_uc022bcu.1_Missense_Mutation_p.P464S|DOCK8_uc010mgv.3_Missense_Mutation_p.P464S|DOCK8_uc010mgu.3_5'UTR|DOCK8_uc003zgg.3_Missense_Mutation_p.P464S|DOCK8_uc022bct.1_Non-coding_Transcript	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	532	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GCCCGTGAAACCCTTTCCTGA	0.453000														34			33		0	0	0.004878	0	0
TMEM63B	55362	broad.mit.edu	37	6	44102468	44102468	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:44102468C>T	uc003owr.3	+	1	211	c.147C>T	c.(145-147)ttC>ttT	p.F49F	TMEM63B_uc003owq.1_Silent_p.F49F|TMEM63B_uc010jyy.1_5'UTR|TMEM63B_uc003ows.3_5'Flank	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	49						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CTCTCGACTTCATGTGCTTCC	0.607000														70			26		0	0	0.008361	0	0
ZNF648	127665	broad.mit.edu	37	1	182026812	182026812	+	Missense_Mutation	SNP	C	T	T	rs141227760	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:182026812C>T	uc001goz.3	-	1	542	c.334G>A	c.(334-336)Gag>Aag	p.E112K	ZNF648_uc021pfu.1_Missense_Mutation_p.E112K	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	Homo sapiens zinc finger protein 648 (ZNF648), mRNA.	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E112D(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CCCTGGGTCTCGTTGATCTTT	0.547000														53			34		0	0	0.002836	0	0
RSPH3	83861	broad.mit.edu	37	6	159420903	159420903	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:159420903G>A	uc003qrx.3	-	0	296	c.106C>T	c.(106-108)Cct>Tct	p.P36S	RSPH3_uc010kju.3_Missense_Mutation_p.P36S	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	Homo sapiens radial spoke 3 homolog (Chlamydomonas) (RSPH3), mRNA.	36										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GCGGCACAAGGGACTTCCGGC	0.692000														37			11		0	0	0.008291	0	0
PNPLA6	10908	broad.mit.edu	37	19	7625908	7625908	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:7625908C>T	uc010xjq.2	+	31	4095	c.3855C>T	c.(3853-3855)gcC>gcT	p.A1285A	PNPLA6_uc002mgq.2_Silent_p.A1237A|PNPLA6_uc010xjp.2_Silent_p.A1210A|PNPLA6_uc002mgr.2_Silent_p.A1237A|PNPLA6_uc002mgs.3_Silent_p.A1275A	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	1276					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AGGTGCTTGCCTTCCCAAGCT	0.637000														16			4		0	0	0.000602	0	0
COL7A1	1294	broad.mit.edu	37	3	48612933	48612933	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:48612933C>T	uc003ctz.2	-	72	6020	c.6019G>A	c.(6019-6021)Gac>Aac	p.D2007N		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2007	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTCCACGGTCGCCCTTCAGC	0.697000														14			5		0	0	0.000602	0	0
CENPI	2491	broad.mit.edu	37	X	100402756	100402756	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:100402756C>T	uc004egx.3	+	17	2101	c.1831C>T	c.(1831-1833)Cgt>Tgt	p.R611C	CENPI_uc011mrg.2_Missense_Mutation_p.R611C	NM_006733	NP_006724	Q92674	CENPI_HUMAN	Homo sapiens centromere protein I (CENPI), mRNA.	611					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TGTTAGATATCGTAAAAATTT	0.269000														13			17		0	0	0.001882	0	0
MS4A8B	83661	broad.mit.edu	37	11	60468529	60468530	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:60468529_60468530CT>TC	uc001npv.3	+	1	399_400	c.196_197CT>TC	c.(196-198)ctg>TCg	p.L66S	MS4A8B_uc009yne.1_Missense_Mutation_p.L66S	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 8B (MS4A8B), mRNA.	66						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GCAGAAAGCTCTGAAAGAAGGC	0.550000														26			15		0	0	0.004672	0	0
FOXA3	3171	broad.mit.edu	37	19	46375568	46375568	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:46375568G>A	uc002pdr.3	+	1	502	c.305G>A	c.(304-306)gGg>gAg	p.G102E		NM_004497	NP_004488	P55318	FOXA3_HUMAN	Homo sapiens forkhead box A3 (FOXA3), mRNA.	102					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		CTGGTGCACGGGAAGGAGATG	0.692000														30			16		0	0	0.007413	0	0
FLT1	2321	broad.mit.edu	37	13	29041073	29041073	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:29041073C>T	uc001usb.3	-	2	640	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	FLT1_uc010aar.1_Missense_Mutation_p.E119K|FLT1_uc001usc.3_Missense_Mutation_p.E119K|FLT1_uc010tdp.1_Missense_Mutation_p.E119K|FLT1_uc001usd.3_Missense_Mutation_p.E119K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	119	Ig-like C2-type 1.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GATTCTGTTTCCTTCTTCTTT	0.363000														46			14		0	0	0.001855	0	0
CCDC148	130940	broad.mit.edu	37	2	159195377	159195377	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:159195377C>T	uc002tzq.3	-	6	939	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	CCDC148_uc002tzr.3_Missense_Mutation_p.E57K|CCDC148_uc010foh.3_Intron|CCDC148_uc010fok.2_Missense_Mutation_p.E123K|CCDC148_uc010foi.2_Missense_Mutation_p.E156K|CCDC148_uc010foj.2_Missense_Mutation_p.E57K|CCDC148_uc002tzs.2_Missense_Mutation_p.E209K	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.	209										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATGGGCAGTTCACTAAGCGGG	0.303000														56			18		0	0	0.002299	0	0
LOXL2	4017	broad.mit.edu	37	8	23186040	23186040	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:23186040C>T	uc003xdh.1	-	5	1344	c.1005G>A	c.(1003-1005)ggG>ggA	p.G335G		NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	335	SRCR 3.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CGCGGCCCTCCCCGATGTAGG	0.622000														56			17		0	0	0.004990	0	0
C17orf97	400566	broad.mit.edu	37	17	263022	263022	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:263022C>T	uc021tna.1	+	1	404	c.388C>T	c.(388-390)Ccg>Tcg	p.P130S	C17orf97_uc010vpz.1_5'Flank	NM_001013672	NP_001013694	Q6ZQX7	CQ097_HUMAN	Homo sapiens chromosome 17 open reading frame 97 (C17orf97), mRNA.	130								p.G129G(1)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						AGAGCGTGGCCCGAAACCAGA	0.517000														40			21		0	0	0.001882	0	0
C6orf118	168090	broad.mit.edu	37	6	165715342	165715342	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:165715342C>T	uc003qum.4	-	1	505	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	157										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TTCTTTTCTTCCTTCCCCTCT	0.612000														73			38		0	0	0.005524	0	0
MAP3K7	6885	broad.mit.edu	37	6	91257074	91257074	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:91257074G>A	uc003pnz.1	-	10	1418	c.1113C>T	c.(1111-1113)tcC>tcT	p.S371S	MAP3K7_uc003pob.1_Silent_p.S371S|MAP3K7_uc003poa.1_Silent_p.S371S|MAP3K7_uc003poc.1_Silent_p.S371S	NM_145331	NP_663304	O43318	M3K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 7 (MAP3K7), transcript variant B, mRNA.	371					I-kappaB phosphorylation|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		TGCTCCCACGGGAGGCTCCCA	0.468000														144			53		0	0	0.003610	0	0
MYH8	4626	broad.mit.edu	37	17	10297626	10297626	+	Silent	SNP	C	T	T	rs140525529		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:10297626C>T	uc002gmm.2	-	34	5201	c.5106G>A	c.(5104-5106)agG>agA	p.R1702R	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1702					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.R1702R(2)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CGGCGATTTTCCTGCTTCTCT	0.567000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					45			28		0	0	0.009535	0	0
SLC26A7	115111	broad.mit.edu	37	8	92346639	92346639	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:92346639G>T	uc003yez.3	+	5	998	c.759G>T	c.(757-759)agG>agT	p.R253S	SLC26A7_uc003yex.3_Missense_Mutation_p.R253S|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Missense_Mutation_p.R253S	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	253						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	p.R253R(3)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AGTTTAAAAGGAAAATTAAAG	0.363000														34			6		0.00116845	0.00132969	0.001168	1	0
PRRC2A	7916	broad.mit.edu	37	6	31599685	31599685	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:31599685C>T	uc003nvb.4	+	15	3484	c.3235C>T	c.(3235-3237)Ccc>Tcc	p.P1079S	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.P1079S	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	1079	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding	p.P1079S(2)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCTCCTGCTCCCCGAGGCCG	0.657000														17			10		0	0	0.006214	0	0
C22orf40	150383	broad.mit.edu	37	22	46644127	46644127	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:46644127T>C	uc003bhe.3	-	1	96	c.55A>G	c.(55-57)Acc>Gcc	p.T19A	C22orf40_uc003bhf.3_Non-coding_Transcript	NM_207327	NP_997210	Q6NVV7	CV040_HUMAN	Homo sapiens chromosome 22 open reading frame 40 (C22orf40), mRNA.	19										endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						GCTGTCAAGGTACAGAGTTCA	0.577000														16			7		0	0	0.004482	0	0
HIVEP2	3097	broad.mit.edu	37	6	143074834	143074834	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:143074834G>A	uc003qjd.3	-	9	7494	c.6751C>T	c.(6751-6753)Ccc>Tcc	p.P2251S		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	2251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GGCAATGTGGGTGAAGGATGT	0.562000														49			24		0	0	0.002299	0	0
CATSPERB	79820	broad.mit.edu	37	14	92189438	92189438	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:92189438G>A	uc001xzs.1	-	3	404	c.264C>T	c.(262-264)atC>atT	p.I88I		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	88					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TACTATTCATGATTCCCAAGC	0.338000														43			20		0	0	0.010504	0	0
NOS3	4846	broad.mit.edu	37	7	150690932	150690932	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:150690932C>T	uc003wif.3	+	1	337	c.41C>T	c.(40-42)cCc>cTc	p.P14L	NOS3_uc011kuy.2_Intron|NOS3_uc011kva.2_Missense_Mutation_p.P14L|NOS3_uc011kuz.2_Missense_Mutation_p.P14L|NOS3_uc011kvb.2_Missense_Mutation_p.P14L	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	14					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CCTGGGCCACCCTGCGGCCTG	0.692000														10			28		0	0	0.002836	0	0
DDX41	51428	broad.mit.edu	37	5	176938925	176938925	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:176938925T>C	uc003mho.3	-	16	1757	c.1736A>G	c.(1735-1737)gAg>gGg	p.E579G	DOK3_uc003mhi.4_5'Flank|DOK3_uc003mhj.4_5'Flank|DOK3_uc003mhk.3_5'Flank|DDX41_uc003mhn.3_Missense_Mutation_p.E448G|DDX41_uc003mhp.3_Missense_Mutation_p.E448G	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA.	579					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			ACAGCCGCGCTCTCCTGGGGG	0.637000														46			4		0	0	0.009096	0	0
UPF1	5976	broad.mit.edu	37	19	18971235	18971235	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:18971235C>T	uc002nkg.3	+	15	2596	c.2321C>T	c.(2320-2322)tCc>tTc	p.S774F	UPF1_uc002nkf.3_Missense_Mutation_p.S763F|UPF1_uc002nkh.3_Missense_Mutation_p.S18F	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	774					DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TCGGGCACCTCCTACCTGAAC	0.547000														90			37		0	0	0.007835	0	0
ZNF700	90592	broad.mit.edu	37	19	12089398	12089398	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:12089398G>A	uc010xmf.2	+	3	845	c.719G>A	c.(718-720)aGa>aAa	p.R240K	ZNF700_uc002msv.3_Missense_Mutation_p.R223K|ZNF700_uc002msw.3_Missense_Mutation_p.R220K|ZNF700_uc010xmg.2_Missense_Mutation_p.R98K	NM_001012753	NP_001012771	Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 763 (ZNF763), mRNA.	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						ATCCATGAAAGAACTCACACT	0.383000														50			28		0	0	0.004656	0	0
PRR23B	389151	broad.mit.edu	37	3	138738846	138738846	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:138738846G>A	uc003esy.1	-	0	923	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	220	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCAGAAGGCGGAATTCCAGG	0.662000														35			15		0	0	0.003163	0	0
TM2D3	80213	broad.mit.edu	37	15	102185351	102185351	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:102185351G>A	uc002bxi.3	-	4	547	c.517C>T	c.(517-519)Ccc>Tcc	p.P173S	TM2D3_uc010usg.1_Missense_Mutation_p.P147S|TM2D3_uc002bxh.3_Missense_Mutation_p.P108S|TM2D3_uc002bxj.3_Missense_Mutation_p.P147S	NM_078474	NP_510883	Q9BRN9	TM2D3_HUMAN	Homo sapiens TM2 domain containing 3 (TM2D3), transcript variant 1, mRNA.	173						integral to membrane				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGCATTTTGGGAAAAGTACGG	0.353000														11			25		0	0	0.004656	0	0
RGPD3	653489	broad.mit.edu	37	2	107029624	107029624	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:107029624C>T	uc010ywi.1	-	21	5239	c.5182G>A	c.(5182-5184)Gaa>Aaa	p.E1728K		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1728	GRIP.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTCTCTCTTTCACTACCTGGC	0.443000														164			70		0	0	0.003610	0	0
PCM1	5108	broad.mit.edu	37	8	17819629	17819629	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:17819629C>T	uc022asj.1	+	14	2548	c.2526C>T	c.(2524-2526)acC>acT	p.T842T	PCM1_uc003wyi.4_Silent_p.T803T|PCM1_uc011kyh.2_Silent_p.T803T|PCM1_uc003wyj.4_Silent_p.T804T	NM_006197	NP_006188	Q15154	PCM1_HUMAN	Homo sapiens pericentriolar material 1 (PCM1), mRNA.	803					G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AACACGAGACCAGTACAAGCA	0.378000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""									20			4		0	0	0.009096	0	0
FANCB	2187	broad.mit.edu	37	X	14868791	14868791	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:14868791T>A	uc004cwg.1	-	6	1600	c.1332A>T	c.(1330-1332)gaA>gaT	p.E444D	FANCB_uc004cwh.1_Missense_Mutation_p.E444D	NM_001018113	NP_689846	Q8NB91	FANCB_HUMAN	Homo sapiens Fanconi anemia, complementation group B (FANCB), transcript variant 1, mRNA.	444					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GAACAAGACATTCCTTCTAAA	0.308000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					3			4		0	0	0.000602	0	0
C6orf221	154288	broad.mit.edu	37	6	74073507	74073507	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:74073507G>A	uc003pgt.4	+	2	631	c.578G>A	c.(577-579)cGa>cAa	p.R193Q		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.	193										NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						GGGACCCAGCGATCCCCCGAA	0.642000														34			19		0	0	0.008871	0	0
ZNF761	388561	broad.mit.edu	37	19	53958194	53958194	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:53958194C>T	uc010eqp.3	+	6	891	c.433C>T	c.(433-435)Cat>Tat	p.H145Y	ZNF761_uc010ydy.2_Missense_Mutation_p.H91Y|ZNF761_uc002qbt.2_Missense_Mutation_p.H91Y	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATCAAGCTTTCATTCGCATCT	0.388000														71			50		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9068117	9068117	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9068117C>T	uc002mkp.3	-	2	19533	c.19329G>A	c.(19327-19329)agG>agA	p.R6443R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6445	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						TGGCAATGGTCCTTTCTTCGG	0.522000														133			72		0	0	0.003610	0	0
STAG3	10734	broad.mit.edu	37	7	99798111	99798112	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:99798111_99798112CC>TT	uc003utx.1	+	17	1961_1962	c.1806_1807CC>TT	c.(1804-1809)ctccag>ctTTag	p.Q603*	STAG3_uc010lgs.1_Nonsense_Mutation_p.Q391*|STAG3_uc011kjk.1_Nonsense_Mutation_p.Q545*|STAG3_uc003uub.1_5'Flank	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	603					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCCCCTGCTCCAGCTTCTCAG	0.540000														20			45		0	0	0.004672	0	0
MTMR3	8897	broad.mit.edu	37	22	30405059	30405059	+	Silent	SNP	T	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:30405059T>G	uc003agv.4	+	11	1390	c.1062T>G	c.(1060-1062)tcT>tcG	p.S354S	MTMR3_uc003agu.4_Silent_p.S354S|MTMR3_uc003agw.4_Silent_p.S354S	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	354	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ACATTCATTCTATTCGGAGGA	0.423000														119			52		0	0	0.003610	0	0
COL4A1	1282	broad.mit.edu	37	13	110838746	110838746	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:110838746G>A	uc001vqw.4	-	25	2005	c.1883C>T	c.(1882-1884)tCc>tTc	p.S628F		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	628	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CAGGCCTGGGGATCCAGGGCC	0.622000														115			66		0	0	0.003610	0	0
SOGA2	23255	broad.mit.edu	37	18	8824715	8824715	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:8824715C>T	uc002knr.2	+	14	3349	c.3207C>T	c.(3205-3207)tcC>tcT	p.S1069S	SOGA2_uc002knq.2_Silent_p.S1028S|SOGA2_uc002kns.2_Silent_p.S409S	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	1379																	CCGTGTCCTCCATGTCTGAGT	0.597000														10			11		0	0	0.000978	0	0
BRCA2	675	broad.mit.edu	37	13	32937450	32937450	+	Missense_Mutation	SNP	C	T	T	rs80359054		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:32937450C>T	uc001uub.1	+	17	8338	c.8111C>T	c.(8110-8112)tCt>tTt	p.S2704F		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	2704					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCTGAAACTTCTAGCAATAAA	0.383000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				49			10		0	0	0.008291	0	0
ECHS1	1892	broad.mit.edu	37	10	135182473	135182473	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:135182473C>T	uc001lmu.3	-	3	539	c.468G>A	c.(466-468)gaG>gaA	p.E156E		NM_004092	NP_004083	P30084	ECHM_HUMAN	Homo sapiens enoyl CoA hydratase, short chain, 1, mitochondrial (ECHS1), nuclear gene encoding mitochondrial protein, mRNA.	156					fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		ACTGGGCCTTCTCACCGGCAT	0.488000														33			26		0	0	0.002096	0	0
FAM160B1	57700	broad.mit.edu	37	10	116602693	116602693	+	Splice_Site	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:116602693A>T	uc001lcb.3	+	6	858	c.523_splice	c.e6-1	p.N175_splice	FAM160B1_uc001lcc.3_Splice_Site_p.N175_splice	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	Homo sapiens family with sequence similarity 160, member B1 (FAM160B1), transcript variant 1, mRNA.	175										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						CCTTTTCAGAATAAGATGAAA	0.308000														7			8		0	0	0.003080	0	0
TECTA	7007	broad.mit.edu	37	11	120989023	120989023	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:120989023C>T	uc010rzo.2	+	5	799	c.799C>T	c.(799-801)Ctt>Ttt	p.L267F		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	267	VWFC.				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)		AGGACAATTCCTTCGGCGAGG	0.478000														46			14		0	0	0.003163	0	0
MYH13	8735	broad.mit.edu	37	17	10231253	10231253	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:10231253C>T	uc002gmk.1	-	21	2711	c.2621G>A	c.(2620-2622)cGg>cAg	p.R874Q		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	874					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CAGCTCCTTCCGGCGAGCCTC	0.537000											OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		32			22		0	0	0.002299	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679660	160679660	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:160679660C>T	uc003qtf.3	-	0	304	c.130G>A	c.(130-132)Ggc>Agc	p.G44S	SLC22A2_uc003qth.2_Missense_Mutation_p.G44S	NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	44					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GGGGTGAAGCCCAGGAAGACG	0.612000														66			11		0	0	0.001368	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013483	73013483	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:73013483T>C	uc003hgg.2	+	3	1621	c.1523T>C	c.(1522-1524)tTa>tCa	p.L508S	NPFFR2_uc010iig.2_Missense_Mutation_p.L290S|NPFFR2_uc003hgi.2_Missense_Mutation_p.L409S|NPFFR2_uc003hgh.2_Missense_Mutation_p.L406S	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	508					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CAACAGGAATTAGTGATGGAA	0.343000														61			17		0	0	0.008871	0	0
CABIN1	23523	broad.mit.edu	37	22	24456554	24456554	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:24456554A>G	uc002zzi.1	+	11	1694	c.1567A>G	c.(1567-1569)Acc>Gcc	p.T523A	CABIN1_uc021wnc.1_Missense_Mutation_p.T473A|CABIN1_uc002zzj.1_Missense_Mutation_p.T473A|CABIN1_uc002zzl.2_Missense_Mutation_p.T523A	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	523					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAGGCACAGCACCAGCCTGCC	0.612000														37			17		0	0	0.007413	0	0
MUC16	94025	broad.mit.edu	37	19	8996489	8996489	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:8996489C>T	uc002mkp.3	-	60	41287	c.41083G>A	c.(41083-41085)Gaa>Aaa	p.E13695K	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.E512K|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13697	SEA 11.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCATCCTTTTCAGGCCTGGAG	0.547000														38			26		0	0	0.003330	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47423875	47423875	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:47423875T>C	uc010ekv.3	+	0	1943	c.1943T>C	c.(1942-1944)gTg>gCg	p.V648A		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	648					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										AGGCTTCCTGTGAACTCTTTC	0.438000														61			28		0	0	0.009535	0	0
LIMA1	51474	broad.mit.edu	37	12	50589631	50589631	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:50589631G>A	uc001rwj.4	-	7	1186	c.1012C>T	c.(1012-1014)Cct>Tct	p.P338S	LIMA1_uc001rwg.4_Missense_Mutation_p.P36S|LIMA1_uc001rwh.4_Missense_Mutation_p.P178S|LIMA1_uc001rwi.4_Missense_Mutation_p.P178S|LIMA1_uc001rwk.4_Missense_Mutation_p.P338S|LIMA1_uc010sms.2_Non-coding_Transcript|LIMA1_uc010smr.2_Non-coding_Transcript	NM_016357	NP_001230704	Q9UHB6	LIMA1_HUMAN	Homo sapiens LIM domain and actin binding 1 (LIMA1), transcript variant 2, mRNA.	338					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TCTTCGGCAGGGGTGGAACGG	0.378000														51			16		0	0	0.010504	0	0
COL20A1	57642	broad.mit.edu	37	20	61943346	61943346	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:61943346C>T	uc011aau.2	+	13	1842	c.1742C>T	c.(1741-1743)cCg>cTg	p.P581L	COL20A1_uc011aav.2_Missense_Mutation_p.P402L	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	581	Fibronectin type-III 4.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GAGGGTGCCCCGAGGCCTGTG	0.682000														28			6		0	0	0.001984	0	0
OR52B4	143496	broad.mit.edu	37	11	4388826	4388826	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:4388826C>T	uc010qye.2	-	0	791	c.700G>A	c.(700-702)Gat>Aat	p.D234N		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCAAGCATCTGGAGAAGGC	0.438000														64			21		0	0	0.002299	0	0
NBEA	26960	broad.mit.edu	37	13	35615209	35615209	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:35615209G>A	uc021rid.1	+	1	968	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	NBEA_uc021ric.1_Missense_Mutation_p.R145Q	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	145						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCCATTCTACGAAAAAGTGTT	0.408000														56			30		0	0	0.007291	0	0
N4BP2	55728	broad.mit.edu	37	4	40104726	40104726	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:40104726C>T	uc003guy.4	+	3	1599	c.1261C>T	c.(1261-1263)Caa>Taa	p.Q421*	N4BP2_uc010ifq.3_Nonsense_Mutation_p.Q341*|N4BP2_uc010ifr.3_Nonsense_Mutation_p.Q341*	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	421						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AAGTGCTTATCAAGTACAAGA	0.413000														52			9		0	0	0.006214	0	0
NOP14	8602	broad.mit.edu	37	4	2955286	2955286	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:2955286G>A	uc003ggj.1	-	4	771	c.699C>T	c.(697-699)tcC>tcT	p.S233S	NOP14-AS1_uc003ggi.1_Intron|NOP14_uc010icp.2_5'UTR|NOP14_uc003ggl.3_Silent_p.S233S|NOP14_uc010icq.1_Non-coding_Transcript	NM_003703	NP_003694	P78316	NOP14_HUMAN	Homo sapiens NOP14 nucleolar protein homolog (yeast) (NOP14), mRNA.	233					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	Noc4p-Nop14p complex|mitochondrion|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						GAGTTTTGTGGGACAGGAGAG	0.483000														117			75		0	0	0.003610	0	0
MYO18B	84700	broad.mit.edu	37	22	26219623	26219623	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:26219623C>T	uc003abz.1	+	12	2923	c.2673C>T	c.(2671-2673)ctC>ctT	p.L891L	MYO18B_uc003aca.1_Silent_p.L772L|MYO18B_uc010guy.1_Silent_p.L772L|MYO18B_uc010guz.1_Silent_p.L772L|MYO18B_uc011aka.1_Silent_p.L45L|MYO18B_uc011akb.1_Silent_p.L404L	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	891	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GATGGGGCCTCGAGGATGAGG	0.592000														143			51		0	0	0.003610	0	0
ATP2B4	493	broad.mit.edu	37	1	203676226	203676226	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:203676226G>A	uc001gzw.3	+	8	2086	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	ATP2B4_uc001gzv.3_Missense_Mutation_p.E397K|ATP2B4_uc009xaq.3_Missense_Mutation_p.E397K	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	397					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATGGCTCCCTGAGTGTACTCC	0.493000														47			6		0	0	0.001168	0	0
EFCAB5	374786	broad.mit.edu	37	17	28405450	28405450	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:28405450C>T	uc002het.3	+	14	3147	c.2955C>T	c.(2953-2955)atC>atT	p.I985I	EFCAB5_uc010cse.3_Silent_p.I740I|EFCAB5_uc010csf.3_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	985							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGCACCAAATCCAATGTGCTG	0.478000														68			9		0	0	0.006214	0	0
FSTL5	56884	broad.mit.edu	37	4	162402207	162402208	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:162402207_162402208GG>AA	uc003iqh.3	-	12	2008_2009	c.1572_1573CC>TT	c.(1570-1575)gtcctt>gtTTtt	p.L525F	FSTL5_uc003iqi.3_Missense_Mutation_p.L524F|FSTL5_uc010iqv.3_Missense_Mutation_p.L515F	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	525						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCAACAATAAGGACTCTGTCCA	0.347000														66			45		0	0	0.004672	0	0
EPHA7	2045	broad.mit.edu	37	6	94066578	94066578	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:94066578C>T	uc003poe.3	-	4	1422	c.1181G>A	c.(1180-1182)gGa>gAa	p.G394E	EPHA7_uc003pof.3_Missense_Mutation_p.G394E|EPHA7_uc011eac.2_Missense_Mutation_p.G394E	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	394	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATCCTCTAATCCAGTCTGCTG	0.463000														51			20		0	0	0.002299	0	0
EEFSEC	60678	broad.mit.edu	37	3	127965788	127965788	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:127965788C>T	uc003eki.3	+	1	464	c.426C>T	c.(424-426)gtC>gtT	p.V142V		NM_021937	NP_068756	P57772	SELB_HUMAN	Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA.	142						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						AGAAGCTGGTCGTGGTGCTGA	0.483000														153			70		0	0	0.003610	0	0
FEM1A	55527	broad.mit.edu	37	19	4792693	4792693	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:4792693C>T	uc002mbf.3	+	0	966	c.827C>T	c.(826-828)tCc>tTc	p.S276F	AK126532_uc002mbg.1_Non-coding_Transcript	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN	Homo sapiens fem-1 homolog a (C. elegans) (FEM1A), mRNA.	276					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TGCAGCTCCTCCCCAGAGGAA	0.647000														48			10		0	0	0.000978	0	0
AGAP7	653268	broad.mit.edu	37	10	51465424	51465424	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:51465424C>T	uc001jio.3	-	6	1158	c.1032G>A	c.(1030-1032)atG>atA	p.M344I	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 (AGAP7), mRNA.	344	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						GCCCGGTGTCCATGTCCTTGG	0.552000														91			83		0	0	0.003610	0	0
OR2M2	391194	broad.mit.edu	37	1	248343642	248343642	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:248343642G>T	uc010pzf.2	+	0	355	c.355G>T	c.(355-357)Gct>Tct	p.A119S		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGCTGTTATGGCTTATGACCG	0.418000														188			47		2.13384e-23	2.46086e-23	0.003610	1	0
MECOM	2122	broad.mit.edu	37	3	168845645	168845645	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:168845645G>A	uc011bpj.1	-	4	1220	c.817C>T	c.(817-819)Cct>Tct	p.P273S	MECOM_uc010hwk.1_Missense_Mutation_p.P108S|MECOM_uc003ffj.3_Missense_Mutation_p.P149S|MECOM_uc003ffi.3_Missense_Mutation_p.P85S|MECOM_uc011bpi.1_Missense_Mutation_p.P85S|MECOM_uc003ffn.3_Missense_Mutation_p.P85S|MECOM_uc003ffk.2_Missense_Mutation_p.P85S|MECOM_uc003ffl.2_Missense_Mutation_p.P245S|MECOM_uc011bpk.1_Missense_Mutation_p.P85S|MECOM_uc010hwn.2_Missense_Mutation_p.P273S|MECOM_uc003ffm.1_Missense_Mutation_p.P149S	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							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						TGCAAATCAGGAAAAACTTGG	0.383000														92			42		0	0	0.003610	0	0
SPARC	6678	broad.mit.edu	37	5	151051159	151051160	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:151051159_151051160GG>AA	uc003lui.3	-	4	409_410	c.304_305CC>TT	c.(304-306)cca>TTa	p.P102L	SPARC_uc003lug.3_Intron	NM_003118	NP_003109	P09486	SPRC_HUMAN	Homo sapiens secreted protein, acidic, cysteine-rich (osteonectin) (SPARC), mRNA.	102	Kazal-like.				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	AATGGGGGCTGGGCAGCTGGTG	0.589000														113			50		0	0	0.004672	0	0
ARMC4	55130	broad.mit.edu	37	10	28229547	28229547	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:28229547G>A	uc009xky.3	-	12	2029	c.1931C>T	c.(1930-1932)tCt>tTt	p.S644F	ARMC4_uc010qds.2_Missense_Mutation_p.S169F|ARMC4_uc010qdt.2_Missense_Mutation_p.S336F|ARMC4_uc001itz.3_Missense_Mutation_p.S644F|ARMC4_uc010qdu.1_Missense_Mutation_p.S336F	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	644							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GTTTTCATGAGAAGTCTTCAG	0.512000														90			17		0	0	0.004007	0	0
NLRP2	55655	broad.mit.edu	37	19	55512191	55512191	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:55512191C>T	uc021vbq.1	+	12	3225	c.3114C>T	c.(3112-3114)aaC>aaT	p.N1038N	NLRP2_uc010yfp.2_Silent_p.N1015N|NLRP2_uc002qij.3_Silent_p.N1038N|NLRP2_uc010esp.3_Silent_p.N1016N|NLRP2_uc010esn.3_Silent_p.N1014N|NLRP2_uc010eso.3_Silent_p.N1035N	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	1038					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AAGAAAAAAACCCACAACTGA	0.413000														39			16		0	0	0.003163	0	0
NEB	4703	broad.mit.edu	37	2	152350316	152350316	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:152350316C>T	uc021vrb.1	-	140	19106	c.19077G>A	c.(19075-19077)gtG>gtA	p.V6359V	NEB_uc002txr.3_Intron|NEB_uc002txu.3_Silent_p.V8215V|NEB_uc021vrc.1_Silent_p.V8215V|NEB_uc010fnx.3_Silent_p.V6347V|NEB_uc021vrd.1_Silent_p.V6359V|RIF1_uc002txp.3_Intron|NEB_uc010zbz.2_Intron|NEB_uc002txq.3_Silent_p.V238V|NEB_uc010zca.2_Silent_p.V190V|NEB_uc010zcb.2_Intron	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	6359					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GATTGCGTTTCACTCTTTCCA	0.398000														9			5		0	0	0.001168	0	0
GRIA1	2890	broad.mit.edu	37	5	153175112	153175112	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:153175112G>A	uc011dcy.2	+	13	2404	c.2377G>A	c.(2377-2379)Gat>Aat	p.D793N	GRIA1_uc003lva.4_Missense_Mutation_p.D783N|GRIA1_uc003luy.4_Intron|GRIA1_uc003luz.4_Missense_Mutation_p.D688N|GRIA1_uc011dcv.2_Intron|GRIA1_uc011dcw.2_Intron|GRIA1_uc011dcx.2_Intron|GRIA1_uc011dcz.2_Intron	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	783					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATGGTGGTACGATAAAGGGGA	0.483000														17			7		0	0	0.003080	0	0
HERC2	8924	broad.mit.edu	37	15	28457652	28457652	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:28457652G>A	uc001zbj.3	-	42	6970	c.6864C>T	c.(6862-6864)aaC>aaT	p.N2288N		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	2288					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTCCAGCGAGGTTCACCAACT	0.498000														44			16		0	0	0.007413	0	0
NALCN	259232	broad.mit.edu	37	13	101712174	101712174	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:101712174G>A	uc001vox.1	-	41	5090	c.4901C>T	c.(4900-4902)cCt>cTt	p.P1634L		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1634						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCATACCTCAGGTTGCATGCT	0.517000														63			21		0	0	0.002780	0	0
GAR1	54433	broad.mit.edu	37	4	110743579	110743579	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:110743579G>A	uc003hzt.3	+	4	813	c.506G>A	c.(505-507)aGa>aAa	p.R169K	GAR1_uc003hzu.3_Missense_Mutation_p.R169K|GAR1_uc010imi.3_Missense_Mutation_p.R169K	NM_018983	NP_127460	Q9NY12	GAR1_HUMAN	Homo sapiens GAR1 ribonucleoprotein homolog (yeast) (GAR1), transcript variant 1, mRNA.	169	RGG-box 2.				rRNA processing|snRNA pseudouridine synthesis	Cajal body|box H/ACA snoRNP complex	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						GGACCTCCaagaggtggtggc	0.483000														24			6		0	0	0.001984	0	0
FMN2	56776	broad.mit.edu	37	1	240492391	240492391	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:240492391G>A	uc010pye.2	+	9	4468	c.4243G>A	c.(4243-4245)Gaa>Aaa	p.E1415K	FMN2_uc010pyd.2_Missense_Mutation_p.E1411K|FMN2_uc010pyf.1_Missense_Mutation_p.E57K|FMN2_uc010pyg.2_Missense_Mutation_p.E7K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1411	FH2.				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	p.E1554K(1)		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)			ACAGTCAGACGAACTCGAAAA	0.363000														33			15		0	0	0.002450	0	0
OR13G1	441933	broad.mit.edu	37	1	247836033	247836033	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:247836033G>A	uc001idi.1	-	0	311	c.311C>T	c.(310-312)tCt>tTt	p.S104F		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGCTCCCAGAGACCATGTGAA	0.458000														29			10		0	0	0.001368	0	0
DOK2	9046	broad.mit.edu	37	8	21767128	21767128	+	Silent	SNP	C	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:21767128C>A	uc003wzx.1	-	4	1026	c.933G>T	c.(931-933)ggG>ggT	p.G311G	DOK2_uc003wzy.1_Silent_p.G311G|DOK2_uc003wzz.1_Silent_p.G157G|DOK2_uc010lth.1_Silent_p.G157G	NM_003974	NP_003965	O60496	DOK2_HUMAN	Homo sapiens docking protein 2, 56kDa (DOK2), mRNA.	311					blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TGAAGTTCTTCCCCAAGGAAC	0.657000														60			35		1.69901e-12	1.94894e-12	0.005524	1	0
COL8A1	1295	broad.mit.edu	37	3	99513110	99513110	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:99513110C>T	uc003dti.1	+	2	496	c.368C>T	c.(367-369)cCc>cTc	p.P123L	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.P122L|COL8A1_uc003dth.1_Missense_Mutation_p.P122L	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	122	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GAACAAGGTCCCCGTGGAGAG	0.527000														24			14		0	0	0.006122	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140725259	140725259	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140725259G>A	uc003ljm.2	+	0	1659	c.1659G>A	c.(1657-1659)ctG>ctA	p.L553L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.L553L	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	555	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCGTGCTGGACCAGAACG	0.622000														104			59		0	0	0.003610	0	0
CUX2	23316	broad.mit.edu	37	12	111785472	111785472	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:111785472G>A	uc001tsa.2	+	21	3958	c.3804G>A	c.(3802-3804)caG>caA	p.Q1268Q		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1268						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CTGAGGACCAGAAGCCAACCG	0.622000														22			18		0	0	0.004990	0	0
RGAG1	57529	broad.mit.edu	37	X	109696046	109696046	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:109696046C>T	uc004eor.2	+	2	2447	c.2201C>T	c.(2200-2202)tCg>tTg	p.S734L	RGAG1_uc011msr.1_Missense_Mutation_p.S734L	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	734										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ATGTCCATGTCGCCCATGAAG	0.527000														26			24		0	0	0.005443	0	0
ADAM28	10863	broad.mit.edu	37	8	24200644	24200644	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:24200644G>A	uc003xdy.3	+	16	1944	c.1861G>A	c.(1861-1863)Gag>Aag	p.E621K	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.E308K	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	621	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGTGGATATTGAGAAAGCCTA	0.378000														45			21		0	0	0.003330	0	0
ALG3	10195	broad.mit.edu	37	3	183961673	183961673	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:183961673G>A	uc003fne.2	-	5	869	c.838C>T	c.(838-840)Cca>Tca	p.P280S	ALG3_uc011brc.1_Missense_Mutation_p.P245S|ALG3_uc011brd.1_Missense_Mutation_p.P224S|ALG3_uc011bre.1_Missense_Mutation_p.P232S	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA.	280					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			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCGCCTCTGGGAGGAAGCGC	0.627000														33			5		0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179498051	179498051	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179498051G>A	uc021vsy.1	-	181	35470	c.35245C>T	c.(35245-35247)Cga>Tga	p.R11749*	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.R5444*|TTN_uc021vta.1_Nonsense_Mutation_p.R5377*|TTN_uc021vtb.1_Nonsense_Mutation_p.R5252*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12676	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R11749T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTATTAGTCGAGCTGAAATG	0.393000														110			40		0	0	0.002522	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18765932	18765933	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:18765932_18765933CC>TT	uc010exr.3	-	3	688_689	c.576_577GG>AA	c.(574-579)aggggg>agAAgg	p.G193R	NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.G251R|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.G191R|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.G251R|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.G234R|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.G268R|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.G253R|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.G191R|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Missense_Mutation_p.G43R	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	251	Pro-rich.				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										GGGTAGATCCCCCTGCGCTGGC	0.673000														14			4		0	0	0.004672	0	0
NUP205	23165	broad.mit.edu	37	7	135289098	135289098	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:135289098C>T	uc003vsw.3	+	18	2744	c.2713C>T	c.(2713-2715)Cat>Tat	p.H905Y		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	905					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ATACCTATATCATGGCAATAC	0.338000														20			31		0	0	0.009535	0	0
TTN	7273	broad.mit.edu	37	2	179500199	179500199	+	Missense_Mutation	SNP	C	T	T	rs55723264		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179500199C>T	uc021vsy.1	-	175	34373	c.34148G>A	c.(34147-34149)gGa>gAa	p.G11383E	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G5078E|TTN_uc021vta.1_Missense_Mutation_p.G5011E|TTN_uc021vtb.1_Missense_Mutation_p.G4886E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12310	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTATCTTTTTCCTTCAATTTC	0.338000														14			4		0	0	0.009096	0	0
OR4K2	390431	broad.mit.edu	37	14	20344630	20344630	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:20344630C>T	uc001vwh.1	+	0	204	c.204C>T	c.(202-204)atC>atT	p.I68I		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCTTTCAATCATTGATATGT	0.423000														113			42		0	0	0.007835	0	0
LAMA3	3909	broad.mit.edu	37	18	21530123	21530123	+	Splice_Site	SNP	G	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:21530123G>T	uc002kuq.3	+	72	9728	c.9642_splice	c.e72+1	p.K3214_splice	LAMA3_uc002kur.3_Splice_Site_p.K3158_splice|LAMA3_uc002kus.4_Splice_Site_p.K1605_splice|LAMA3_uc002kut.4_Splice_Site_p.K1549_splice	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	3214	Laminin G-like 5.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGCAGGAAAGGTGTGTAGCA	0.512000														40			16		1.3612e-06	1.55433e-06	0.003163	1	0
C1orf168	199920	broad.mit.edu	37	1	57258448	57258448	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:57258448C>T	uc001cym.4	-	1	444	c.38G>A	c.(37-39)cGa>cAa	p.R13Q	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Missense_Mutation_p.R13Q	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	13										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						AAATTTGGCTCGAAGTTCCTT	0.388000														169			74		0	0	0.003610	0	0
MMP27	64066	broad.mit.edu	37	11	102567566	102567566	+	Splice_Site	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:102567566C>T	uc001phd.1	-	5	643	c.620_splice	c.e5-1	p.G207_splice		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.	207					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		CAAGTTGAATCCTTGATAATA	0.403000														14			11		0	0	0.000978	0	0
TCF23	150921	broad.mit.edu	37	2	27375592	27375592	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:27375592C>T	uc010ylg.2	+	2	559	c.502C>T	c.(502-504)Ctg>Ttg	p.L168L		NM_175769	NP_786951	Q7RTU1	TCF23_HUMAN	Homo sapiens transcription factor 23 (TCF23), mRNA.	168					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGGAGGCCTGGGGTACTC	0.567000														47			14		0	0	0.003163	0	0
ZNF131	7690	broad.mit.edu	37	5	43174766	43174766	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:43174766C>T	uc011cpw.2	+	6	1439	c.1403C>T	c.(1402-1404)tCa>tTa	p.S468L	ZNF131_uc003jnj.4_Missense_Mutation_p.S189L|ZNF131_uc003jnk.3_Missense_Mutation_p.S434L|ZNF131_uc003jnn.4_Missense_Mutation_p.S189L|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron	NM_003432	NP_003423	P52739	ZN131_HUMAN	Homo sapiens zinc finger protein 131 (ZNF131), mRNA.	468						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						CCTGTAACATCAATGACTATT	0.428000														55			27		0	0	0.007291	0	0
TCRA	0	broad.mit.edu	37	14	22466447	22466447	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:22466447C>T	uc001wcq.3	+	2	534	c.377C>T	c.(376-378)cCt>cTt	p.P126L	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc010tmm.2_Intron|TCRA_uc010ajd.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 16, partial cds, clone: un 96.																		TACGCAAACCCTGCCAAAGCA	0.498000														16			9		0	0	0.004482	0	0
MGAM	8972	broad.mit.edu	37	7	141752740	141752740	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:141752740C>T	uc003vwy.3	+	25	3169	c.3115C>T	c.(3115-3117)Cgc>Tgc	p.R1039C		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1039					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)	GAACCCCCTTCGCCTGGATGT	0.458000														18			62		0	0	0.003610	0	0
STAT2	6773	broad.mit.edu	37	12	56749512	56749512	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:56749512G>A	uc001slc.3	-	3	564	c.361C>T	c.(361-363)Cag>Tag	p.Q121*	STAT2_uc001sld.3_Nonsense_Mutation_p.Q117*|STAT2_uc010sqn.2_Nonsense_Mutation_p.Q117*	NM_005419	NP_005410	P52630	STAT2_HUMAN	Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA.	121					JAK-STAT cascade|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CTCTGAGCCTGGATCAAAATT	0.448000														119			37		0	0	0.006230	0	0
AVPR1B	553	broad.mit.edu	37	1	206224958	206224958	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:206224958C>T	uc001hds.2	+	0	676	c.518C>T	c.(517-519)tCc>tTc	p.S173F		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	173					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	TTCATTTTTTCCCTGCGGGAG	0.652000														39			21		0	0	0.002780	0	0
FLII	2314	broad.mit.edu	37	17	18156662	18156662	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:18156662G>A	uc002gsr.1	-	8	1017	c.966C>T	c.(964-966)ttC>ttT	p.F322F	FLII_uc002gsq.1_Silent_p.F194F|FLII_uc010vxn.1_Silent_p.F291F|FLII_uc010vxo.1_Silent_p.F268F|FLII_uc002gss.1_Silent_p.F322F	NM_002018	NP_002009	Q13045	FLII_HUMAN	Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA.	322	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TGGCAGCCATGAACTCTTCCA	0.577000														32			9		0	0	0.006214	0	0
FBXO40	51725	broad.mit.edu	37	3	121340651	121340651	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:121340651G>A	uc003eeg.2	+	2	585	c.375G>A	c.(373-375)ttG>ttA	p.L125L		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	125					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	p.L125L(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AGGAGTGTTTGGACACAGCCC	0.512000														37			22		0	0	0.010504	0	0
PPM1M	132160	broad.mit.edu	37	3	52283764	52283764	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:52283764C>T	uc011bed.2	+	9	1346	c.1314C>T	c.(1312-1314)tcC>tcT	p.S438S	PPM1M_uc003ddf.4_3'UTR|PPM1M_uc003ddg.4_Silent_p.S226S|PPM1M_uc003ddh.4_Silent_p.S148S	NM_144641	NP_653242	Q96MI6	PPM1M_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1M (PPM1M), transcript variant 1, mRNA.	0					protein dephosphorylation	nucleus	CTD phosphatase activity|manganese ion binding			prostate(1)|urinary_tract(1)	2				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		GGCAGGTGTCCTACGATGACG	0.522000														17			15		0	0	0.004007	0	0
RGL1	23179	broad.mit.edu	37	1	183711422	183711422	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:183711422G>A	uc001gqm.3	+	1	591	c.130G>A	c.(130-132)Gag>Aag	p.E44K	RGL1_uc010pof.1_Missense_Mutation_p.G8E|RGL1_uc010pog.2_Missense_Mutation_p.E44K|RGL1_uc010poh.2_Missense_Mutation_p.E44K	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	0					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						AAAGACAGAGGAGGTAAGATG	0.438000														58			9		0	0	0.006214	0	0
CDCP2	200008	broad.mit.edu	37	1	54605439	54605439	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:54605439C>T	uc001cwv.1	-	3	1952	c.1104G>A	c.(1102-1104)gtG>gtA	p.V368V		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.	368	CUB 3.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CGATGTAGGCCACAGAGAAGC	0.627000														33			17		0	0	0.004990	0	0
CFH	3075	broad.mit.edu	37	1	196654301	196654301	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:196654301C>T	uc001gtj.4	+	6	1138	c.898C>T	c.(898-900)Cct>Tct	p.P300S	CFH_uc001gti.4_Missense_Mutation_p.P300S|CFH_uc009wyw.3_Missense_Mutation_p.P300S|CFH_uc009wyx.3_Missense_Mutation_p.P236S	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	300	Sushi 5.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGGTTTTTATCCTGCAACCCG	0.398000														78			16		0	0	0.004007	0	0
TMOD3	29766	broad.mit.edu	37	15	52192439	52192439	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:52192439C>T	uc002abn.3	+	7	1106	c.823C>T	c.(823-825)Ctg>Ttg	p.L275L	TMOD3_uc010bfc.1_Non-coding_Transcript	NM_014547	NP_055362	Q9NYL9	TMOD3_HUMAN	Homo sapiens tropomodulin 3 (ubiquitous) (TMOD3), mRNA.	275						cytoplasm|cytoskeleton	actin binding|tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		GATTCTGGCACTGATTGATGC	0.418000														27			13		0	0	0.001855	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188286	140188286	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140188286C>T	uc003lhi.2	+	0	1615	c.1514C>T	c.(1513-1515)tCg>tTg	p.S505L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.S505L|PCDHAC2_uc011daa.2_Missense_Mutation_p.S505L	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	519	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCGCTGTCGAGCTACGTT	0.657000														42			23		0	0	0.002299	0	0
FAM83B	222584	broad.mit.edu	37	6	54805149	54805149	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:54805149T>A	uc003pck.3	+	4	1496	c.1380T>A	c.(1378-1380)aaT>aaA	p.N460K		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	460										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)					CAGACAGGAATTCAAATGTTC	0.453000														36			22		0	0	0.010504	0	0
NAALADL2	254827	broad.mit.edu	37	3	174815070	174815070	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:174815070G>A	uc003fit.3	+	1	621	c.534G>A	c.(532-534)aaG>aaA	p.K178K	NAALADL2_uc003fiu.1_Silent_p.K171K	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	178					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AAGATATTAAGAAGTCTTTCA	0.378000														70			34		0	0	0.004878	0	0
APOB	338	broad.mit.edu	37	2	21225258	21225258	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:21225258T>C	uc002red.3	-	28	13164	c.13036A>G	c.(13036-13038)Aaa>Gaa	p.K4346E		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4346					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCAACAATTTAAAAACATAT	0.299000														350			168		0	0	0.003610	0	0
SLC44A5	204962	broad.mit.edu	37	1	75684323	75684323	+	Silent	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:75684323A>G	uc010oqz.1	-	15	1564	c.1498T>C	c.(1498-1500)Tta>Cta	p.L500L	SLC44A5_uc001dgt.2_Silent_p.L461L|SLC44A5_uc001dgs.2_Silent_p.L419L|SLC44A5_uc001dgr.2_Silent_p.L419L|SLC44A5_uc001dgu.3_Silent_p.L461L|SLC44A5_uc010ora.2_Silent_p.L455L|SLC44A5_uc010orb.2_Silent_p.L331L	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	461						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.P500A(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AAGACAAATAAGTTGTATACA	0.438000														42			19		0	0	0.007413	0	0
WNK4	65266	broad.mit.edu	37	17	40936049	40936049	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:40936049C>T	uc002ibj.3	+	2	954	c.886C>T	c.(886-888)Cct>Tct	p.P296S	WNK4_uc010wgx.2_5'UTR|WNK4_uc002ibk.1_Missense_Mutation_p.P68S|WNK4_uc010wgy.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	296	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTCCCGGGTTCCTCCCATCCT	0.617000														48			25		0	0	0.002780	0	0
CCDC108	255101	broad.mit.edu	37	2	219871215	219871215	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:219871215G>T	uc002vjl.1	-	29	4775	c.4691C>A	c.(4690-4692)aCa>aAa	p.T1564K		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1564						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCACAGGCTGTGCAGCATGT	0.567000														107			53		4.88506e-25	5.63588e-25	0.003610	1	0
DNAH8	1769	broad.mit.edu	37	6	38980349	38980349	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:38980349T>A	uc021yzh.1	+	90	13759	c.13650T>A	c.(13648-13650)ttT>ttA	p.F4550L	DNAH8_uc003ooe.2_Missense_Mutation_p.F4333L	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATGCTCAGTTTTCTACGTGGA	0.433000														138			60		0	0	0.003610	0	0
CCR6	1235	broad.mit.edu	37	6	167550636	167550636	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:167550636C>T	uc003qvl.3	+	12	3394	c.918C>T	c.(916-918)ttC>ttT	p.F306F	CCR6_uc010kkm.3_Silent_p.F306F|CCR6_uc003qvn.4_Silent_p.F306F|CCR6_uc003qvm.4_Silent_p.F306F	NM_031409	NP_113597	P51684	CCR6_HUMAN	Homo sapiens chemokine (C-C motif) receptor 6 (CCR6), transcript variant 2, mRNA.	306					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		TCCTGGCTTTCCTGCACTGCT	0.473000														73			25		0	0	0.003954	0	0
PPFIA2	8499	broad.mit.edu	37	12	81657127	81657127	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:81657127G>A	uc001szo.2	-	30	3756	c.3595C>T	c.(3595-3597)Cag>Tag	p.Q1199*	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Nonsense_Mutation_p.Q1098*|PPFIA2_uc021rbh.1_Nonsense_Mutation_p.Q1094*|PPFIA2_uc021rbi.1_Nonsense_Mutation_p.Q1193*|PPFIA2_uc021rbj.1_Nonsense_Mutation_p.Q1178*|PPFIA2_uc021rbk.1_Nonsense_Mutation_p.Q1184*|PPFIA2_uc021rbl.1_Nonsense_Mutation_p.Q1199*|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Nonsense_Mutation_p.Q735*|PPFIA2_uc021rbf.1_Nonsense_Mutation_p.Q385*	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	1099										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GGAGGAAACTGCCTTCTCCAG	0.448000														19			11		0	0	0.001368	0	0
KLK11	11012	broad.mit.edu	37	19	51528040	51528040	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:51528040C>T	uc002pvd.1	-	2	259	c.147G>A	c.(145-147)ggG>ggA	p.G49G	KLK11_uc002pvc.4_Silent_p.G17G|KLK11_uc002pve.1_5'UTR|KLK11_uc002pvb.2_Silent_p.G17G|KLK11_uc002pvf.1_Silent_p.G17G|KLK11_uc010eom.3_Silent_p.G17G	NM_144947	NP_006844	Q9UBX7	KLK11_HUMAN	Homo sapiens kallikrein-related peptidase 11 (KLK11), transcript variant 2, mRNA.	49			G -> E (in dbSNP:rs3745539).		proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		TGGTCTCTCCCCCTACAAGCC	0.617000														12			10		0	0	0.000978	0	0
DENND2C	163259	broad.mit.edu	37	1	115079246	115079246	+	RNA	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:115079246C>T	uc001eez.3	-	28		c.4397G>A				NM_198459		Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.											NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGTGTGAACCTTCCTGGGGC	0.537000														23			15		0	0	0.003163	0	0
ADD2	119	broad.mit.edu	37	2	70931583	70931583	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:70931583C>T	uc021vjc.1	-	3	457	c.192G>A	c.(190-192)agG>agA	p.R64R	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Silent_p.R64R|ADD2_uc002sgz.3_Silent_p.R64R|ADD2_uc010fdt.2_Silent_p.R64R|ADD2_uc002shc.2_Silent_p.R64R|ADD2_uc010fdu.2_Silent_p.R80R	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	64					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CCAGCTCCTCCCTGAAAGACT	0.607000														33			21		0	0	0.002299	0	0
FEM1A	55527	broad.mit.edu	37	19	4793084	4793084	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:4793084C>T	uc002mbf.3	+	0	1357	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	AK126532_uc002mbg.1_Non-coding_Transcript	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN	Homo sapiens fem-1 homolog a (C. elegans) (FEM1A), mRNA.	406					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	p.F406F(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CGGGCAATTTCGAGCGCTGCA	0.622000														55			29		0	0	0.008361	0	0
MUC16	94025	broad.mit.edu	37	19	8973575	8973575	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:8973575G>A	uc002mkp.3	-	76	42945	c.42741C>T	c.(42739-42741)ttC>ttT	p.F14247F	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.F1047F|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	14310				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCAGAAGCGGAATGTGTCAT	0.547000														9			5		0	0	0.001168	0	0
ETV4	2118	broad.mit.edu	37	17	41611318	41611318	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:41611318C>T	uc002idw.3	-	5	420	c.292G>A	c.(292-294)Gag>Aag	p.E98K	ETV4_uc010wih.2_Missense_Mutation_p.E98K|ETV4_uc010czh.3_Missense_Mutation_p.E97K|ETV4_uc010wii.2_Missense_Mutation_p.E59K|ETV4_uc002idx.3_Missense_Mutation_p.E98K|ETV4_uc010wij.2_Missense_Mutation_p.E59K|ETV4_uc002idy.1_Missense_Mutation_p.E59K	NM_001986	NP_001977	P43268	ETV4_HUMAN	Homo sapiens ets variant 4 (ETV4), transcript variant 1, mRNA.	98					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		CTCTGGGGCTCCTTCTTGATC	0.647000			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""									12			7		0	0	0.003080	0	0
PKHD1	5314	broad.mit.edu	37	6	51927330	51927330	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:51927330C>T	uc003pah.1	-	13	1381	c.1105G>A	c.(1105-1107)Gga>Aga	p.G369R	PKHD1_uc003pai.3_Missense_Mutation_p.G369R	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	369					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.G369R(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAAGGTTGTCCTTCCTGTGAC	0.493000														87			36		0	0	0.005524	0	0
CCDC147	159686	broad.mit.edu	37	10	106130806	106130806	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:106130806G>A	uc001kyh.3	+	6	1218	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	362										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TGTGGGATTAGAGAGAGGTAA	0.373000														10			7		0	0	0.003080	0	0
PLEC	5339	broad.mit.edu	37	8	144994643	144994643	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:144994643G>A	uc003zaf.1	-	31	9927	c.9757C>T	c.(9757-9759)Ctg>Ttg	p.L3253L	PLEC_uc003zab.1_Silent_p.L3116L|PLEC_uc003zac.1_Silent_p.L3120L|PLEC_uc003zad.2_Silent_p.L3116L|PLEC_uc003zae.1_Silent_p.L3084L|PLEC_uc003zag.1_Silent_p.L3094L|PLEC_uc003zah.2_Silent_p.L3102L|PLEC_uc003zaj.2_Silent_p.L3143L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3253	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCTGGAACAGGGAGACGCTC	0.657000														22			14		0	0	0.004007	0	0
HMCN1	83872	broad.mit.edu	37	1	186086707	186086707	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:186086707G>A	uc001grq.1	+	76	12029	c.11800G>A	c.(11800-11802)Ggt>Agt	p.G3934S	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3934	Ig-like C2-type 38.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GACCAAAAATGGTATAAGACT	0.423000														67			19		0	0	0.010504	0	0
OR51B4	79339	broad.mit.edu	37	11	5322921	5322921	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:5322921C>T	uc010qza.2	-	0	256	c.256G>A	c.(256-258)Gac>Aac	p.D86N	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCCTCTGGTCTAGCAGCAGG	0.512000														51			28		0	0	0.006320	0	0
RIC3	79608	broad.mit.edu	37	11	8132361	8132361	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:8132361C>T	uc010rbm.1	-	5	1132	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	RIC3_uc001mgb.2_Missense_Mutation_p.E170K|RIC3_uc010rbl.1_Missense_Mutation_p.E282K|RIC3_uc001mgd.2_Missense_Mutation_p.E332K|RIC3_uc001mgc.2_Missense_Mutation_p.E331K|RIC3_uc009yfm.2_Missense_Mutation_p.E251K|RIC3_uc001mge.2_Missense_Mutation_p.E150K|RIC3_uc009yfn.2_Missense_Mutation_p.E135K	NM_024557	NP_001193600	Q7Z5B4	RIC3_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA.	332						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TTGGTGGTTTCCTCTTGCTCA	0.483000														80			39		0	0	0.006230	0	0
DNAH1	25981	broad.mit.edu	37	3	52422227	52422227	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:52422227C>T	uc011bef.2	+	56	9309	c.9048C>T	c.(9046-9048)atC>atT	p.I3016I	DNAH1_uc003ddv.3_5'UTR	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3016	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.Y3015Y(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGCCGTACATCGATAATGAAG	0.562000														7			5		0	0	0.003080	0	0
EXTL3	2137	broad.mit.edu	37	8	28575536	28575536	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:28575536C>T	uc003xgz.1	+	2	2553	c.1960C>T	c.(1960-1962)Ctt>Ttt	p.L654F		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	654						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TCAGGCAGCGCTTGGAGGCAA	0.557000														29			23		0	0	0.002299	0	0
FLVCR1	28982	broad.mit.edu	37	1	213061908	213061908	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:213061908C>T	uc001hjt.3	+	6	1583	c.1385C>T	c.(1384-1386)tCa>tTa	p.S462L		NM_014053	NP_054772	Q9Y5Y0	FLVC1_HUMAN	Homo sapiens feline leukemia virus subgroup C cellular receptor 1 (FLVCR1), mRNA.	462					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		GAAGGTACTTCATCTGGTCTT	0.368000														64			29		0	0	0.007291	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21453318	21453318	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:21453318C>T	uc001rer.3	-	6	1125	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	SLCO1A2_uc010siq.2_Missense_Mutation_p.E160K|SLCO1A2_uc001res.3_Missense_Mutation_p.E292K|SLCO1A2_uc010sio.2_Missense_Mutation_p.E160K|SLCO1A2_uc010sip.2_Missense_Mutation_p.E160K|SLCO1A2_uc001ret.3_Missense_Mutation_p.E290K|SLCO1A2_uc001reu.2_Missense_Mutation_p.E272K	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	292					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TTGACCTCTTCTTTTTGTTTG	0.308000														23			11		0	0	0.001368	0	0
NMNAT3	349565	broad.mit.edu	37	3	139297865	139297865	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:139297865G>A	uc003etj.3	-	1	182	c.142C>T	c.(142-144)Cct>Tct	p.P48S	NMNAT3_uc010hul.3_Intron|NMNAT3_uc003etk.3_Missense_Mutation_p.P11S|NMNAT3_uc003etl.3_Non-coding_Transcript	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA.	48					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						TCGTTGACAGGAGAGATGATA	0.557000														24			8		0	0	0.003080	0	0
RALGAPB	57148	broad.mit.edu	37	20	37168506	37168506	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:37168506C>T	uc002xiw.3	+	16	2724	c.2467C>T	c.(2467-2469)Cct>Tct	p.P823S	RALGAPB_uc002xix.3_Missense_Mutation_p.P819S|RALGAPB_uc002xiy.1_Missense_Mutation_p.P823S|RALGAPB_uc002xiz.3_Missense_Mutation_p.P601S|RALGAPB_uc002xja.1_Missense_Mutation_p.P550S	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	823					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCGGCCAGCTCCTTTACACTC	0.488000														73			21		0	0	0.002780	0	0
TNC	3371	broad.mit.edu	37	9	117849554	117849554	+	Splice_Site	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:117849554T>C	uc004bjj.4	-	3	870	c.458_splice	c.e3-1	p.G153_splice	TNC_uc010mvf.3_Splice_Site_p.G153_splice|TNC_uc022bmj.1_Splice_Site_p.G153_splice	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	153					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCAAGCGGCCTGCAACAAAAG	0.542000														13			12		0	0	0.001368	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635487	122635487	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:122635487A>C	uc003vkl.1	-	0	268	c.202T>G	c.(202-204)Ttt>Gtt	p.F68V		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	Homo sapiens taste receptor, type 2, member 16 (TAS2R16), mRNA.	68					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TAGGAGCAAAAATTGTTCAGC	0.403000														70			18		0	0	0.008871	0	0
UBC	7316	broad.mit.edu	37	17	21731137	21731137	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:21731137C>T	uc002gyy.3	+	1	564	c.439C>T	c.(439-441)Ctg>Ttg	p.L147L				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	299	Ubiquitin-like 2.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.V146V(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GCATCTGGTCCTGCGTCTGAG	0.557000														38			9		0	0	0.000978	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18762521	18762521	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:18762521G>A	uc001rdt.3	+	29	4133	c.4017G>A	c.(4015-4017)gaG>gaA	p.E1339E	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.E1380E|PIK3C2G_uc010sic.2_Silent_p.E1158E	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1339	C2.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.E1339E(1)|p.V1340V(1)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TATCCTACGAGGATGTGAAGC	0.363000														9			4		0	0	0.000602	0	0
FAT3	120114	broad.mit.edu	37	11	92534496	92534496	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:92534496C>T	uc001pdj.4	+	8	8334	c.8317C>T	c.(8317-8319)Cgt>Tgt	p.R2773C		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2773	Cadherin 25.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACGCCTTGACCGTGAAACCAG	0.443000										TCGA Ovarian(4;0.039)				329			90		0	0	0.003610	0	0
TPTE	7179	broad.mit.edu	37	21	10969106	10969106	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:10969106C>T	uc002yip.1	-	6	510	c.142G>A	c.(142-144)Gga>Aga	p.G48R	TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Intron|TPTE_uc002yir.1_Intron|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	48					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CGGGCTGCTCCTTTAAATTCA	0.468000														115			22		0	0	0.002780	0	0
GALNTL6	442117	broad.mit.edu	37	4	173852374	173852374	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:173852374G>A	uc003isv.3	+	8	1840	c.1104G>A	c.(1102-1104)agG>agA	p.R368R		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	368	Catalytic subdomain B.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						ATATCTACAGGAAGTACGTTC	0.423000														103			10		0	0	0.008291	0	0
XIST	7503	broad.mit.edu	37	X	73066488	73066488	+	RNA	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:73066488C>T	uc004ebm.1	-	0		c.6101G>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GTGGGCACTTCCTGCTGGAAG	0.468000														21			24		0	0	0.003330	0	0
IL20RB	53833	broad.mit.edu	37	3	136677029	136677029	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:136677029C>T	uc003eri.2	+	0	323	c.74C>T	c.(73-75)cCa>cTa	p.P25L	IL20RB_uc003erj.2_Non-coding_Transcript	NM_144717	NP_653318	Q6UXL0	I20RB_HUMAN	Homo sapiens interleukin 20 receptor beta (IL20RB), mRNA.	25						integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						GCATTGATTCCATGTTTGCTC	0.388000														59			17		0	0	0.007413	0	0
RP1	6101	broad.mit.edu	37	8	55539327	55539327	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:55539327G>A	uc003xsd.1	+	3	3033	c.2885G>A	c.(2884-2886)gGa>gAa	p.G962E	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	962					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACAAATTCTGGAAAAATAAGT	0.313000														44			20		0	0	0.010504	0	0
TOP2B	7155	broad.mit.edu	37	3	25670418	25670418	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:25670418G>A	uc011awn.1	-	14	1869	c.1826C>T	c.(1825-1827)tCc>tTc	p.S609F	TOP2B_uc003cdj.2_Missense_Mutation_p.S604F|TOP2B_uc021wug.1_Missense_Mutation_p.S604F	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA.	609					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						ACTGTAGAAGGAAAGTTCCTG	0.259000														35			13		0	0	0.003163	0	0
C2orf77	129881	broad.mit.edu	37	2	170518802	170518802	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:170518802C>T	uc002ufe.2	-	4	901	c.807G>A	c.(805-807)agG>agA	p.R269R		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	Homo sapiens chromosome 2 open reading frame 77 (C2orf77), mRNA.	269										endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|urinary_tract(2)	23						GAAACCGTCTCCTGCTTTCAT	0.308000														188			37		0	0	0.002522	0	0
C6orf118	168090	broad.mit.edu	37	6	165715547	165715547	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:165715547C>T	uc003qum.4	-	1	300	c.264G>A	c.(262-264)ggG>ggA	p.G88G	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	88										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		AGGCGCGCTCCCCCTTGGGCC	0.647000														45			33		0	0	0.003271	0	0
FGGY	55277	broad.mit.edu	37	1	60073487	60073487	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:60073487C>T	uc009wac.3	+	8	1128	c.916C>T	c.(916-918)Ccg>Tcg	p.P306S	FGGY_uc001czg.2_Missense_Mutation_p.P194S|FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Missense_Mutation_p.P306S|FGGY_uc001czl.4_Missense_Mutation_p.P218S|FGGY_uc001czm.4_Missense_Mutation_p.P7S	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	306					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					CAGCAAAGACCCGATTTTTGT	0.458000														72			24		0	0	0.003954	0	0
MYBPC3	4607	broad.mit.edu	37	11	47364271	47364271	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:47364271G>A	uc021qis.1	-	16	1537	c.1482C>T	c.(1480-1482)acC>acT	p.T494T	MYBPC3_uc021qir.1_Silent_p.T146T|MYBPC3_uc010rhl.2_Non-coding_Transcript	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	493	Ig-like C2-type 3.		R -> G (in CMH4).|R -> Q (in CMH4).		cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TCTCCTCCCGGGTCAGCTCCA	0.622000														73			44		0	0	0.003610	0	0
ASXL3	80816	broad.mit.edu	37	18	31325250	31325250	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:31325250G>A	uc010dmg.1	+	11	5493	c.5438G>A	c.(5437-5439)gGg>gAg	p.G1813E	ASXL3_uc002kxq.2_Missense_Mutation_p.G1520E	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1813					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TACTTGGCAGGGACTCTGGCA	0.478000														113			23		0	0	0.003330	0	0
GCDH	2639	broad.mit.edu	37	19	13007120	13007120	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:13007120C>T	uc002mvq.3	+	7	814	c.737C>T	c.(736-738)tCg>tTg	p.S246L	GCDH_uc010xms.2_Missense_Mutation_p.S213L|GCDH_uc002mvp.3_Missense_Mutation_p.S246L|GCDH_uc010xmt.2_Missense_Mutation_p.S80L|GCDH_uc010xmu.2_Missense_Mutation_p.S202L	NM_000159	NP_000150	Q92947	GCDH_HUMAN	Homo sapiens glutaryl-CoA dehydrogenase (GCDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	246					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						CGGGGTCTCTCGGCCCCCAGG	0.607000														47			22		0	0	0.002299	0	0
CD1E	913	broad.mit.edu	37	1	158325692	158325692	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:158325692G>A	uc001fse.3	+	3	994	c.701G>A	c.(700-702)gGa>gAa	p.G234E	CD1E_uc010pid.2_Missense_Mutation_p.G232E|CD1E_uc010pie.2_Missense_Mutation_p.G135E|CD1E_uc001fsh.3_Missense_Mutation_p.G45E|CD1E_uc001fry.3_Missense_Mutation_p.G234E|CD1E_uc001fsf.3_Missense_Mutation_p.G234E|CD1E_uc001fsg.3_Missense_Mutation_p.G45E|CD1E_uc009wsv.3_Missense_Mutation_p.G135E|CD1E_uc001fsj.3_Missense_Mutation_p.G144E|CD1E_uc001fsk.3_Missense_Mutation_p.G144E|CD1E_uc001fsa.3_Missense_Mutation_p.G45E|CD1E_uc001fsd.3_Missense_Mutation_p.G234E|CD1E_uc001frz.3_Missense_Mutation_p.G144E|CD1E_uc010pig.2_Missense_Mutation_p.G45E|CD1E_uc001fsc.3_Missense_Mutation_p.G45E|CD1E_uc021pbm.1_Non-coding_Transcript|CD1E_uc009wsw.3_5'UTR	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	234	Ig-like.				antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CATGTCTCAGGATTCTACCCA	0.592000														52			10		0	0	0.006214	0	0
AIFM2	84883	broad.mit.edu	37	10	71874039	71874039	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:71874039G>A	uc010qjg.2	-	7	1033	c.1017C>T	c.(1015-1017)ggC>ggT	p.G339G	AIFM2_uc021psi.1_Silent_p.G339G|AIFM2_uc001jqp.2_Silent_p.G339G	NM_001198696	NP_001185625	Q9BRQ8	AIFM2_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 2 (AIFM2), transcript variant 1, mRNA.	339					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CACTGATTTGGCCCACACCGT	0.577000														15			22		0	0	0.001882	0	0
NT5C3L	115024	broad.mit.edu	37	17	39985093	39985093	+	Silent	SNP	C	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:39985093C>A	uc021txo.1	-	6	594	c.516G>T	c.(514-516)gtG>gtT	p.V172V	NT5C3L_uc021txn.1_Silent_p.V164V|NT5C3L_uc002hxy.4_Silent_p.V164V	NM_052935	NP_443167	C9JKC4	C9JKC4_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic III-like (NT5C3L), transcript variant 1, mRNA.	172						cytoplasm	5'-nucleotidase activity|magnesium ion binding			kidney(1)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	11		Breast(137;0.000162)		BRCA - Breast invasive adenocarcinoma(366;0.15)		TGGGGTGGAACACTTTCATCT	0.458000														60			38		2.19358e-23	2.52782e-23	0.005524	1	0
SERPINB2	5055	broad.mit.edu	37	18	61570341	61570341	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:61570341T>A	uc010xeu.2	+	8	1383	c.1050T>A	c.(1048-1050)ttT>ttA	p.F350L	SERPINB2_uc002ljo.3_Missense_Mutation_p.F350L|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	350					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	ATGACCTGTTTCTTTCTGAAG	0.517000														54			14		0	0	0.002450	0	0
OPRK1	4986	broad.mit.edu	37	8	54141918	54141918	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:54141918C>T	uc003xrh.1	-	2	1457	c.1082G>A	c.(1081-1083)cGa>cAa	p.R361Q	OPRK1_uc022aup.1_Missense_Mutation_p.R241Q|OPRK1_uc003xri.1_Missense_Mutation_p.R361Q|OPRK1_uc010lyc.1_Missense_Mutation_p.R272Q	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	361					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	p.R361Q(2)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AACTGTATTTCGGACTCTGCT	0.478000														48			19		0	0	0.008871	0	0
BACH2	60468	broad.mit.edu	37	6	90642519	90642519	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:90642519C>T	uc011eab.2	-	8	3008	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K	BACH2_uc003pnw.3_Missense_Mutation_p.E712K	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	712						nucleus	protein dimerization activity|sequence-specific DNA binding	p.Q711K(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CGGCAAACTTCCTGGGAAAGG	0.532000														40			23		0	0	0.001882	0	0
PRB2	653247	broad.mit.edu	37	12	11546792	11546792	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:11546792G>A	uc010shk.1	-	2	255	c.220C>T	c.(220-222)Cct>Tct	p.P74S		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTTCCTGGAGGAGGTGGGGGA	0.602000														202			6		0	0	0.003080	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887392	12887392	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:12887392G>A	uc001auk.2	-	2	661	c.465C>T	c.(463-465)atC>atT	p.I155I		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	155										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGATGCTTCTGATATTGCGGA	0.468000														261			105		0	0	0.003610	0	0
PARP1	142	broad.mit.edu	37	1	226566910	226566910	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:226566910C>T	uc001hqd.4	-	11	1849	c.1678G>A	c.(1678-1680)Gtg>Atg	p.V560M		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	560					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		ACGATGTCCACCAGGCCAAGG	0.527000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						99			20		0	0	0.008871	0	0
RFPL3	10738	broad.mit.edu	37	22	32756362	32756362	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:32756362C>T	uc003amj.3	+	1	702	c.497C>T	c.(496-498)tCc>tTc	p.S166F	RFPL3_uc010gwn.3_Missense_Mutation_p.S137F|RFPL3-AS1_uc003amk.3_Non-coding_Transcript|RFPL3-AS1_uc003aml.3_Non-coding_Transcript	NM_001098535	NP_006595	O75679	RFPL3_HUMAN	Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA.	166	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						TTTGACGTGTCCGTTTGCATC	0.567000														72			34		0	0	0.004289	0	0
KLKB1	3818	broad.mit.edu	37	4	187179221	187179221	+	Missense_Mutation	SNP	G	A	A	rs146525902	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:187179221G>A	uc003iyy.3	+	14	1843	c.1772G>A	c.(1771-1773)cGt>cAt	p.R591H	KLKB1_uc011clc.2_Missense_Mutation_p.R389H|KLKB1_uc011cld.2_Silent_p.A506A	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	591	Peptidase S1.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GGAATGTGGCGTTTGGTGGGC	0.473000														75			13		0	0	0.004990	0	0
LGI1	9211	broad.mit.edu	37	10	95517914	95517914	+	Nonsense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:95517914A>T	uc001kjc.4	+	0	349	c.13A>T	c.(13-15)Aga>Tga	p.R5*	LGI1_uc021pwk.1_Nonsense_Mutation_p.R5*|LGI1_uc010qnv.2_Nonsense_Mutation_p.R5*|LGI1_uc009xui.3_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	5					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GGAATCAGAAAGAAGCAAAAG	0.443000														21			6		0	0	0.003080	0	0
KAT2B	8850	broad.mit.edu	37	3	20168972	20168972	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:20168972C>T	uc003cbq.3	+	10	2126	c.1680C>T	c.(1678-1680)ttC>ttT	p.F560F		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	Homo sapiens K(lysine) acetyltransferase 2B (KAT2B), mRNA.	560	N-acetyltransferase.				N-terminal peptidyl-lysine acetylation|cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|PCAF complex|chromatin remodeling complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						GTATCTGTTTCCGTATGTTCC	0.383000														60			27		0	0	0.004656	0	0
NOP58	51602	broad.mit.edu	37	2	203157613	203157613	+	Silent	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:203157613T>A	uc002uzb.3	+	8	1044	c.894T>A	c.(892-894)ctT>ctA	p.L298L	SNORD11_uc002uzd.1_5'Flank	NM_015934	NP_057018	Q9Y2X3	NOP58_HUMAN	Homo sapiens NOP58 ribonucleoprotein homolog (yeast) (NOP58), mRNA.	298	Nop.				cell growth|rRNA processing|snRNP protein import into nucleus	Cajal body|box C/D snoRNP complex|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						GAGCACGGCTTATTGCTCATG	0.368000														110			32		0	0	0.004289	0	0
LPHN2	23266	broad.mit.edu	37	1	82421744	82421744	+	Splice_Site	SNP	G	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:82421744G>T	uc001dit.4	+	10	2147	c.1966_splice	c.e10+1	p.V656_splice	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Splice_Site_p.V656_splice|LPHN2_uc001div.3_Splice_Site_p.V656_splice|LPHN2_uc009wcd.3_Splice_Site_p.V656_splice|LPHN2_uc001diw.3_Splice_Site_p.V240_splice	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	669					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGAAAATATTGGTAAGTGAAT	0.358000														14			11		3.86212e-05	4.4034e-05	0.008291	1	0
TTC21B	79809	broad.mit.edu	37	2	166805994	166805994	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:166805994G>A	uc002udk.3	-	2	305	c.172C>T	c.(172-174)Cga>Tga	p.R58*	TTC21B_uc002udl.3_Nonsense_Mutation_p.R58*	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	Homo sapiens tetratricopeptide repeat domain 21B (TTC21B), mRNA.	58						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TCAAATTCTCGAAGAGCTTCT	0.308000														96			28		0	0	0.006320	0	0
HCN4	10021	broad.mit.edu	37	15	73635884	73635884	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:73635884G>A	uc002avp.3	-	1	2045	c.1051C>T	c.(1051-1053)Ccc>Tcc	p.P351S		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	351					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TAGTCCACGGGGATGGAGGAA	0.527000														44			41		0	0	0.002852	0	0
LARP4	113251	broad.mit.edu	37	12	50855014	50855014	+	Silent	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:50855014A>G	uc001rwp.2	+	10	1420	c.1218A>G	c.(1216-1218)agA>agG	p.R406R	LARP4_uc001rwq.2_Silent_p.R335R|LARP4_uc001rwt.2_Intron|LARP4_uc001rws.2_Silent_p.R405R|LARP4_uc001rwr.2_Intron|LARP4_uc021qxv.1_Silent_p.R336R|LARP4_uc009zlr.1_Silent_p.R225R|LARP4_uc001rwm.3_Silent_p.R406R|LARP4_uc001rwn.3_Silent_p.R336R	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA.	406							RNA binding|nucleotide binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ATAGTTCAAGAAACTTTCCAG	0.478000														68			39		0	0	0.007835	0	0
FGF16	8823	broad.mit.edu	37	X	76711794	76711795	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:76711794_76711795CC>TT	uc011mqp.2	+	1	132_133	c.132_133CC>TT	c.(130-135)ttccgg>ttTTgg	p.R45W		NM_003868	NP_003859	O43320	FGF16_HUMAN	Homo sapiens fibroblast growth factor 16 (FGF16), mRNA.	136					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						AATGTGTTTTCCGGGAACAGTT	0.426000														37			36		0	0	0.004672	0	0
VCL	7414	broad.mit.edu	37	10	75867093	75867093	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:75867093C>T	uc001jwd.3	+	16	2634	c.2540C>T	c.(2539-2541)cCa>cTa	p.P847L	VCL_uc009xrr.3_Missense_Mutation_p.P596L|VCL_uc010qky.1_Missense_Mutation_p.P754L|VCL_uc001jwe.3_Missense_Mutation_p.P847L|VCL_uc010qkz.2_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	Homo sapiens vinculin (VCL), transcript variant 1, mRNA.	847	Linker (Pro-rich).|Pro-rich.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CCGCCTCCACCAGACCTTGAA	0.502000														32			15		0	0	0.004990	0	0
CUX1	1523	broad.mit.edu	37	7	101844696	101844696	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:101844696C>T	uc003uys.4	+	17	2279	c.2152C>T	c.(2152-2154)Cgc>Tgc	p.R718C	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.R707C	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	707					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGACGCCATCCGCTCCATCCT	0.657000														33			111		0	0	0.003610	0	0
SGK2	10110	broad.mit.edu	37	20	42198152	42198152	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:42198152G>A	uc002xkv.3	+	4	755	c.536G>A	c.(535-537)gGa>gAa	p.G179E	SGK2_uc002xkr.3_Missense_Mutation_p.G119E|SGK2_uc010ggm.3_Missense_Mutation_p.G119E|SGK2_uc002xkt.3_Non-coding_Transcript|SGK2_uc002xku.3_Missense_Mutation_p.G119E|SGK2_uc002xkq.1_Missense_Mutation_p.G119E	NM_016276	NP_733794	Q9HBY8	SGK2_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA.	179	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GTCAACGGGGGAGAGGTGGGT	0.612000														53			46		0	0	0.003610	0	0
PDE4A	5141	broad.mit.edu	37	19	10578097	10578097	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:10578097C>T	uc002moj.2	+	14	2569	c.2461C>T	c.(2461-2463)Ctc>Ttc	p.L821F	PDE4A_uc021uow.1_Missense_Mutation_p.L799F|PDE4A_uc002mok.2_Missense_Mutation_p.L795F|PDE4A_uc002mol.2_Missense_Mutation_p.L760F|PDE4A_uc002mom.2_Missense_Mutation_p.L582F|PDE4A_uc002moo.2_3'UTR	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA.	821					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	AAGCCCCCTTCTCCCTGCTTG	0.662000														96			37		0	0	0.006230	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37126554	37126554	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:37126554C>T	uc003zzq.3	+	1	398	c.225C>T	c.(223-225)atC>atT	p.I75I	ZCCHC7_uc011lqh.2_Intron|ZCCHC7_uc022bgu.1_Silent_p.I75I|ZCCHC7_uc010mlt.3_Silent_p.I74I|ZCCHC7_uc003zzs.1_Silent_p.I74I	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 7 (ZCCHC7), mRNA.	75							nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		AGAAGCTAATCGTCCTTTCAG	0.408000														62			55		0	0	0.003610	0	0
FAT4	79633	broad.mit.edu	37	4	126336719	126336719	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:126336719G>A	uc003ifj.4	+	4	6601	c.6601G>A	c.(6601-6603)Gaa>Aaa	p.E2201K	FAT4_uc011cgp.2_Missense_Mutation_p.E499K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2201	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TACCAATCAGGAATTTCGGAT	0.433000														71			20		0	0	0.001882	0	0
C1orf222	339457	broad.mit.edu	37	1	1855243	1855243	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:1855243C>T	uc001aik.3	-	6	1208	c.358G>A	c.(358-360)Gac>Aac	p.D120N	C1orf222_uc001ail.3_Missense_Mutation_p.D120N			Q69YW0	CA222_HUMAN	RecName: Full=Uncharacterized protein C1orf222;	120										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGGAGCTTGTCGGAGAAGTAG	0.637000														68			25		0	0	0.003954	0	0
AP1S3	130340	broad.mit.edu	37	2	224642566	224642566	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:224642566G>A	uc002vnn.3	-	1	176	c.24C>T	c.(22-24)ttC>ttT	p.F8F	AP1S3_uc010fww.3_Non-coding_Transcript|AP1S3_uc002vno.3_Non-coding_Transcript|AP1S3_uc010fwx.2_Silent_p.F8F	NM_001039569	NP_001034658	Q96PC3	AP1S3_HUMAN	Homo sapiens adaptor-related protein complex 1, sigma 3 subunit (AP1S3), mRNA.	8					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|coated pit|cytoplasmic vesicle membrane|cytosol|lysosomal membrane|membrane coat	protein transporter activity	p.F8L(2)		NS(1)|breast(1)|lung(2)	4		Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272)		Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTTGTCGACTGAAGAGCAATA	0.408000														49			12		0	0	0.002450	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20569971	20569971	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:20569971C>T	uc002wrz.3	-	17	2523	c.2380G>A	c.(2380-2382)Gag>Aag	p.E794K	RALGAPA2_uc002wry.3_Missense_Mutation_p.E409K|RALGAPA2_uc010zsg.2_Missense_Mutation_p.E242K	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	794					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GGCTGAGGCTCTGAAGAACTC	0.393000														10			6		0	0	0.001168	0	0
IGHG1	3500	broad.mit.edu	37	14	106208050	106208050	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:106208050C>T	uc001yse.3	-	4	797	c.351G>A	c.(349-351)ctG>ctA	p.L117L	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron					RecName: Full=Ig gamma-1 chain C region;																		AGCCTTTGACCAGGCAGGTCA	0.622000														96			78		0	0	0.003610	0	0
SYT17	51760	broad.mit.edu	37	16	19278375	19278375	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:19278375C>T	uc002dfw.3	+	7	1733	c.1402C>T	c.(1402-1404)Cct>Tct	p.P468S	SYT17_uc002dfx.3_Missense_Mutation_p.P407S|SYT17_uc002dfy.3_Missense_Mutation_p.P464S	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	468						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CCGCGTGTCTCCTGCCTCCCT	0.522000														7			7		0	0	0.004482	0	0
PLCH1	23007	broad.mit.edu	37	3	155199879	155199880	+	Missense_Mutation	DNP	GG	AA	AA	rs143608009		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:155199879_155199880GG>AA	uc021xge.1	-	22	4236_4237	c.3959_3960CC>TT	c.(3958-3960)acc>aTT	p.T1320I	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.T1282I	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1320					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)			CTTCTCCCTTGGTAGGACTTTT	0.500000														93			38		0	0	0.004672	0	0
ACACA	31	broad.mit.edu	37	17	35470112	35470112	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:35470112G>A	uc002hnm.3	-	50	6443	c.6252C>T	c.(6250-6252)ccC>ccT	p.P2084P	ACACA_uc002hnk.3_Silent_p.P2006P|ACACA_uc002hnl.3_Silent_p.P2026P|ACACA_uc002hnn.3_Silent_p.P2084P|ACACA_uc002hno.3_Silent_p.P2121P|ACACA_uc010cuy.3_Silent_p.P729P|ACACA_uc010wdb.2_Silent_p.P122P|ACACA_uc010wdc.2_Silent_p.P210P	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	2084	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GCTCAGCCTGGGGAGGAATGT	0.552000														33			8		0	0	0.006214	0	0
TMC2	117532	broad.mit.edu	37	20	2582822	2582822	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:2582822C>T	uc002wgf.1	+	10	1303	c.1288C>T	c.(1288-1290)Cgt>Tgt	p.R430C	TMC2_uc002wgg.1_Missense_Mutation_p.R414C|TMC2_uc010zpw.1_Missense_Mutation_p.R262C|TMC2_uc010zpx.1_Missense_Mutation_p.R261C	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	430						integral to membrane		p.R430H(1)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAGATTTCTTCGTGTCCTGGC	0.388000														33			7		0	0	0.001984	0	0
KDM5B	10765	broad.mit.edu	37	1	202722118	202722118	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:202722118G>A	uc009xag.3	-	12	1840	c.1724C>T	c.(1723-1725)cCa>cTa	p.P575L	KDM5B_uc001gyf.3_Missense_Mutation_p.P539L|KDM5B_uc001gyg.1_Missense_Mutation_p.P381L	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	539	JmjC.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AAAGAGTTCTGGAGCTAGTTT	0.453000														64			8		0	0	0.004482	0	0
TLR7	51284	broad.mit.edu	37	X	12904432	12904432	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:12904432C>T	uc004cvc.3	+	2	944	c.805C>T	c.(805-807)Cct>Tct	p.P269S		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	269					I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TGCCCCATTTCCTTGTGCGCC	0.373000														19			27		0	0	0.005443	0	0
CACNA1S	779	broad.mit.edu	37	1	201036090	201036090	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:201036090C>T	uc001gvv.3	-	19	2809	c.2582G>A	c.(2581-2583)gGt>gAt	p.G861D		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	861					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCAGAAGGAACCCTTGTGCAG	0.597000														22			4		0	0	0.009096	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136569778	136569778	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:136569778C>T	uc003yuv.3	+	4	953	c.559C>T	c.(559-561)Cga>Tga	p.R187*	KHDRBS3_uc003yuw.3_Nonsense_Mutation_p.R187*	NM_006558	NP_006549	O75525	KHDR3_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 3 (KHDRBS3), mRNA.	187					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	p.R187*(2)		NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			TCCAGTGGTTCGAGGGAAACC	0.428000														61			32		0	0	0.003271	0	0
DPY19L3	147991	broad.mit.edu	37	19	32927424	32927424	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:32927424T>G	uc002ntg.3	+	4	599	c.401T>G	c.(400-402)aTt>aGt	p.I134S	DPY19L3_uc002nth.2_Missense_Mutation_p.I134S|DPY19L3_uc002nti.2_5'Flank	NM_001172774	NP_997208	Q6ZPD9	D19L3_HUMAN	Homo sapiens dpy-19-like 3 (C. elegans) (DPY19L3), transcript variant 2, mRNA.	134						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					CGAATGAATATTTACCAAGAG	0.303000														79			39		0	0	0.006230	0	0
CAMK2D	817	broad.mit.edu	37	4	114376973	114376973	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:114376973G>A	uc003ibi.3	-	17	2297	c.1438C>T	c.(1438-1440)Ccc>Tcc	p.P480S	CAMK2D_uc003ibj.3_Intron|CAMK2D_uc003ibk.3_Intron|CAMK2D_uc003ibo.4_Missense_Mutation_p.P514S	NM_001221	NP_001212	Q13557	KCC2D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II delta (CAMK2D), transcript variant 3, mRNA.	480					interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		GGAATACAGGGTGGCCTATTA	0.413000														36			18		0	0	0.010504	0	0
PRB1	5542	broad.mit.edu	37	12	11506643	11506643	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:11506643G>A	uc001qzw.1	-	2	431	c.394C>T	c.(394-396)Ccc>Tcc	p.P132S	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	132	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region		p.P131P(1)		NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGAGGTGGGGGACCTTGAGGT	0.617000														105			57		0	0	0.003610	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317025	30317025	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:30317025G>A	uc009xle.2	-	2	2189	c.2052C>T	c.(2050-2052)caC>caT	p.H684H	KIAA1462_uc001iux.3_Silent_p.H684H|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Silent_p.H546H	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	684										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTCTGTACCGGTGCCCTGGCC	0.527000														58			29		0	0	0.007291	0	0
RCL1	10171	broad.mit.edu	37	9	4826969	4826969	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:4826969C>T	uc003zis.2	+	2	578	c.320C>T	c.(319-321)cCa>cTa	p.P107L		NM_005772	NP_005763	Q9Y2P8	RCL1_HUMAN	Homo sapiens RNA terminal phosphate cyclase-like 1 (RCL1), mRNA.	107					RNA processing|ribosome biogenesis	nucleolus	RNA-3'-phosphate cyclase activity			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		TGCTTGGCTCCATTTATGAAG	0.458000														220			42		0	0	0.007835	0	0
GCN1L1	10985	broad.mit.edu	37	12	120585060	120585060	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:120585060G>A	uc001txo.3	-	37	4756	c.4743C>T	c.(4741-4743)ctC>ctT	p.L1581L		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1581					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGCATCCAGGAGGACTGGAG	0.557000														28			35		0	0	0.003271	0	0
OR51E2	81285	broad.mit.edu	37	11	4703752	4703752	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:4703752T>C	uc001lzk.2	-	1	434	c.190A>G	c.(190-192)Atg>Gtg	p.M64V	OR51E2_uc021qcr.1_Missense_Mutation_p.M64V	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C63G(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCTGCAAGCATGCAGAGAAAG	0.502000														64			25		0	0	0.004656	0	0
ITIH1	3697	broad.mit.edu	37	3	52818456	52818456	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:52818456G>A	uc003dfs.3	+	10	1400	c.1370G>A	c.(1369-1371)aGa>aAa	p.R457K	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Missense_Mutation_p.R315K|ITIH1_uc021wzg.1_Missense_Mutation_p.R169K|ITIH1_uc021wzh.1_Missense_Mutation_p.R169K|ITIH1_uc003dft.3_Missense_Mutation_p.R58K	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	457	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CGGGCCCAGAGAATCTACGAG	0.587000														51			18		0	0	0.008871	0	0
DNAH5	1767	broad.mit.edu	37	5	13920635	13920635	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:13920635C>T	uc003jfd.2	-	5	794	c.752G>A	c.(751-753)gGa>gAa	p.G251E	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	251	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTCTATTTTTCCCAAAGTCTC	0.393000									Kartagener syndrome					84			37		0	0	0.006230	0	0
DHRS13	147015	broad.mit.edu	37	17	27228608	27228608	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:27228608G>A	uc002hde.4	-	2	400	c.273C>T	c.(271-273)ttC>ttT	p.F91F	DHRS13_uc002hdd.4_Silent_p.F41F|DHRS13_uc010wba.2_Intron	NM_144683	NP_653284	Q6UX07	DHR13_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 13 (DHRS13), mRNA.	91						extracellular region	binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CCAAGGCCATGAAGATGACCT	0.587000														70			6		0	0	0.001984	0	0
SPZ1	84654	broad.mit.edu	37	5	79616671	79616671	+	RNA	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:79616671C>T	uc011ctk.1	-	0		c.988G>A			SPZ1_uc003kgn.3_Missense_Mutation_p.R213C			Q9BXG8	SPZ1_HUMAN	Homo sapiens cDNA FLJ25709 fis, clone TST04944.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TTTGGTAAATCGTTTAGAAGA	0.343000														19			13		0	0	0.002450	0	0
EMR1	2015	broad.mit.edu	37	19	6924812	6924812	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:6924812C>T	uc002mfw.3	+	14	1953	c.1915C>T	c.(1915-1917)Ctg>Ttg	p.L639L	EMR1_uc010dvc.3_Intron|EMR1_uc010dvb.3_Silent_p.L587L|EMR1_uc010xji.2_Silent_p.L498L|EMR1_uc010xjj.2_Silent_p.L462L	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	639					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTACCTCCACCTGCACCTCTG	0.552000														40			19		0	0	0.008871	0	0
NARG2	79664	broad.mit.edu	37	15	60768358	60768358	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:60768358G>A	uc002agp.3	-	2	285	c.50C>T	c.(49-51)tCc>tTc	p.S17F	NARG2_uc002ago.3_5'UTR|NARG2_uc010bgk.3_Missense_Mutation_p.S17F|NARG2_uc002agr.1_Missense_Mutation_p.S17F	NM_024611	NP_001018099	Q659A1	NARG2_HUMAN	Homo sapiens NMDA receptor regulated 2 (NARG2), transcript variant 1, mRNA.	17						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						ATTTTTGGGGGAAATATCCCT	0.323000														15			6		0	0	0.001168	0	0
POU6F2	11281	broad.mit.edu	37	7	39247156	39247156	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:39247156C>T	uc003thb.2	+	4	591	c.448C>T	c.(448-450)Caa>Taa	p.Q150*	POU6F2_uc022acb.1_Nonsense_Mutation_p.Q150*|POU6F2_uc010kxo.3_Nonsense_Mutation_p.Q142*	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	150					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CACCAACATCCAAGGGCTGGT	0.542000														41			16		0	0	0.006122	0	0
OR2W1	26692	broad.mit.edu	37	6	29012046	29012046	+	Nonsense_Mutation	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:29012046T>A	uc003nlw.2	-	0	907	c.907A>T	c.(907-909)Aaa>Taa	p.K303*	LOC100129636_uc021ytq.1_5'UTR	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CTCATCAGTTTCTTCAGGGCA	0.378000														18			8		0	0	0.006214	0	0
MYH7	4625	broad.mit.edu	37	14	23886806	23886806	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:23886806C>T	uc001wjx.3	-	30	4365	c.4259G>A	c.(4258-4260)cGg>cAg	p.R1420Q		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1420			R -> W (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATTCTGTAGCCGGTGCTTGGT	0.602000														78			35		0	0	0.004878	0	0
SHC3	53358	broad.mit.edu	37	9	91667023	91667023	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:91667023G>A	uc004aqf.2	-	6	1198	c.891C>T	c.(889-891)atC>atT	p.I297I		NM_016848	NP_058544	Q92529	SHC3_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA.	297	PID.				Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol	protein binding|signal transducer activity	p.I297I(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						AGGCTTGTCCGATGGAGCCGA	0.498000														25			25		0	0	0.003954	0	0
GPR18	2841	broad.mit.edu	37	13	99907871	99907871	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:99907871C>T	uc001voe.4	-	2	915	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	UBAC2_uc001voa.4_Intron|UBAC2_uc010tiu.2_Intron|UBAC2_uc001vob.4_Intron|UBAC2_uc010tiv.2_Intron|UBAC2_uc001vod.3_Intron|UBAC2_uc001voc.3_Intron|UBAC2_uc010tiw.2_Intron|MIR548AN_uc021rly.1_Intron|GPR18_uc010afv.3_Missense_Mutation_p.E86K|GPR18_uc021rlz.1_Missense_Mutation_p.E86K	NM_005292	NP_005283	Q14330	GPR18_HUMAN	Homo sapiens G protein-coupled receptor 18 (GPR18), transcript variant 1, mRNA.	86				E -> A (in Ref. 1; AAB65819).		integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	AATGGCCATTCATCTTTTGCA	0.388000														39			14		0	0	0.004007	0	0
TAS2R43	259289	broad.mit.edu	37	12	11244107	11244107	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:11244107T>C	uc001qzq.1	-	0	806	c.722A>G	c.(721-723)tAc>tGc	p.Y241C	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176884	NP_795365	P59537	T2R43_HUMAN	Homo sapiens taste receptor, type 2, member 43 (TAS2R43), mRNA.	241					detection of chemical stimulus involved in sensory perception of bitter taste	cilium membrane|motile cilium	bitter taste receptor activity			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GGACAGAAAGTAAATGGCACA	0.403000														56			74		0	0	0.003610	0	0
DMXL2	23312	broad.mit.edu	37	15	51795182	51795182	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:51795182C>A	uc010ufy.2	-	16	3038	c.2813G>T	c.(2812-2814)gGa>gTa	p.G938V	DMXL2_uc002abf.3_Missense_Mutation_p.G938V|DMXL2_uc010bfa.3_Intron	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	938						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTTCTTCTGTCCAGGGACTGA	0.363000														63			10		6.40141e-05	7.29581e-05	0.000978	1	0
IFLTD1	160492	broad.mit.edu	37	12	25702317	25702317	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:25702317C>T	uc010sji.1	-	2	498	c.253G>A	c.(253-255)Gga>Aga	p.G85R	IFLTD1_uc001rgt.1_5'UTR|IFLTD1_uc001rgs.2_Missense_Mutation_p.G64R|IFLTD1_uc010sjj.2_Intron|IFLTD1_uc009zjc.2_Missense_Mutation_p.G85R	NM_001145728	NP_001139200	Q8N9Z9	ILFT1_HUMAN	Homo sapiens intermediate filament tail domain containing 1 (IFLTD1), transcript variant 1, mRNA.	64						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					GTCAATTGTCCAGTTGTTGAT	0.388000														26			25		0	0	0.003954	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73078666	73078666	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:73078666C>T	uc001otu.3	+	20	6054	c.6033C>T	c.(6031-6033)tcC>tcT	p.S2011S		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	2011					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ACCGGGACTCCCCTTGGCACC	0.647000														38			22		0	0	0.003330	0	0
KRT34	3885	broad.mit.edu	37	17	39535320	39535320	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:39535320G>A	uc002hwm.3	-	5	1123	c.1111C>T	c.(1111-1113)Cgc>Tgc	p.R371C		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	371	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				AGGTCACAGCGGATCTCTGCC	0.622000														57			25		0	0	0.004656	0	0
MYO5B	4645	broad.mit.edu	37	18	47563277	47563277	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:47563277C>T	uc002leb.2	-	3	686	c.398G>A	c.(397-399)gGa>gAa	p.G133E	MYO5B_uc021ukb.1_Missense_Mutation_p.G132E	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	133	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.G133E(2)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GTCCATGTCTCCCATGTTTTG	0.478000														27			15		0	0	0.007413	0	0
AADAC	13	broad.mit.edu	37	3	151531955	151531955	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:151531955G>A	uc003eze.3	+	0	95	c.5G>A	c.(4-6)gGa>gAa	p.G2E	MIR548H2_uc021xgb.1_Intron	NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	2					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTCACCATGGGAAGAAAATCG	0.433000														74			34		0	0	0.006230	0	0
IL1R1	3554	broad.mit.edu	37	2	102781425	102781425	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:102781425C>T	uc002tbq.3	+	3	571	c.253C>T	c.(253-255)Cct>Tct	p.P85S	IL1R1_uc010fix.3_Missense_Mutation_p.P85S|IL1R1_uc002tbr.3_Missense_Mutation_p.P85S	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	85	Ig-like C2-type 1.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TTGGTTTGTTCCTGCTAAGGT	0.398000														36			9		0	0	0.008291	0	0
SMYD1	150572	broad.mit.edu	37	2	88405935	88405935	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:88405935C>T	uc002ssr.3	+	7	1158	c.1073C>T	c.(1072-1074)tCg>tTg	p.S358L	SMYD1_uc002ssq.2_Intron|SMYD1_uc002sss.3_Missense_Mutation_p.S54L	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.S358S(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AGCATTGTTTCGGAGGTCCTT	0.522000														51			22		0	0	0.002780	0	0
RYR3	6263	broad.mit.edu	37	15	34105726	34105726	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:34105726G>A	uc001zhi.3	+	73	10518	c.10448G>A	c.(10447-10449)cGg>cAg	p.R3483Q	RYR3_uc010bar.3_Missense_Mutation_p.R3478Q	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3483					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R3483W(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCAAAGCAACGGAAACGGGCA	0.512000														97			14		0	0	0.004007	0	0
PTGS2	5743	broad.mit.edu	37	1	186646891	186646891	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:186646891G>A	uc001gsb.3	-	4	666	c.529C>T	c.(529-531)Ccc>Tcc	p.P177S	PTGS2_uc009wyo.3_Intron	NM_000963	NP_000954	P35354	PGH2_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA.	177					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)|gamma-Homolinolenic acid(DB00154)	GAGCCCTGGGGATCAGGGATG	0.423000														34			20		0	0	0.008871	0	0
C2orf54	79919	broad.mit.edu	37	2	241826495	241826495	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:241826495C>T	uc002wae.4	-	4	1495	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K	C2orf54_uc002wac.3_Missense_Mutation_p.E278K|C2orf54_uc002wad.3_Missense_Mutation_p.E297K	NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN	Homo sapiens chromosome 2 open reading frame 54 (C2orf54), transcript variant 1, mRNA.	446										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GCTCAGCTCTCCTCGCCTCCC	0.572000														37			14		0	0	0.003163	0	0
DNAJC6	9829	broad.mit.edu	37	1	65831742	65831742	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:65831742C>T	uc001dce.1	+	3	607	c.406C>T	c.(406-408)Cct>Tct	p.P136S	DNAJC6_uc001dcc.1_Missense_Mutation_p.P110S|DNAJC6_uc001dcd.1_Missense_Mutation_p.P79S|DNAJC6_uc010opc.1_Missense_Mutation_p.P66S	NM_014787	NP_055602	O75061	AUXI_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA.	79	Phosphatase tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	SH3 domain binding|heat shock protein binding|protein tyrosine phosphatase activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GATGTCCTTTCCTCTGGACAA	0.428000														138			55		0	0	0.003610	0	0
RYR3	6263	broad.mit.edu	37	15	33920732	33920732	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:33920732C>T	uc001zhi.3	+	20	2705	c.2635C>T	c.(2635-2637)Ctt>Ttt	p.L879F	RYR3_uc010bar.3_Missense_Mutation_p.L879F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	879	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATCCATGAGCTTTGGGGAAT	0.453000														21			25		0	0	0.006320	0	0
AQP10	89872	broad.mit.edu	37	1	154295498	154295498	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:154295498C>T	uc001feu.3	+	2	313	c.273C>T	c.(271-273)atC>atT	p.I91I	ATP8B2_uc001few.3_5'Flank	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	Homo sapiens aquaporin 10 (AQP10), mRNA.	91					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCATGTGCATCGTTGGACGCC	0.522000														80			16		0	0	0.006122	0	0
TRPC4	7223	broad.mit.edu	37	13	38320118	38320118	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:38320118C>T	uc010abx.3	-	2	1088	c.853G>A	c.(853-855)Gat>Aat	p.D285N	TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Missense_Mutation_p.D285N|TRPC4_uc001uws.3_Missense_Mutation_p.D285N|TRPC4_uc010tey.2_Missense_Mutation_p.D285N|TRPC4_uc010abw.3_Intron|TRPC4_uc010aby.3_Missense_Mutation_p.D285N	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	285	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTTGCAAGATCATTTCCACTT	0.393000														139			34		0	0	0.003271	0	0
GRID1	2894	broad.mit.edu	37	10	87966200	87966200	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:87966200G>A	uc001kdl.1	-	2	542	c.441C>T	c.(439-441)gtC>gtT	p.V147V	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	147						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CATTGAGGCGGACGGGTGGTC	0.622000										Multiple Myeloma(13;0.14)				20			20		0	0	0.010504	0	0
IQGAP3	128239	broad.mit.edu	37	1	156509322	156509322	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:156509322G>A	uc001fpf.3	-	24	2975	c.2900C>T	c.(2899-2901)cCc>cTc	p.P967L		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	967					small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGGTAGATGGGCTGAGTCTG	0.507000														37			15		0	0	0.003163	0	0
MTMR7	9108	broad.mit.edu	37	8	17188763	17188763	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:17188763C>T	uc003wxm.3	-	6	1000	c.761G>A	c.(760-762)gGg>gAg	p.G254E	MTMR7_uc003wxn.3_Missense_Mutation_p.G33E	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	254	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		ATAGCCTTTCCCTGCAGCACG	0.383000														27			8		0	0	0.003080	0	0
NADK	65220	broad.mit.edu	37	1	1688705	1688705	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:1688705G>A	uc001aic.3	-	3	530	c.308C>T	c.(307-309)tCc>tTc	p.S103F	NADK_uc001aid.4_Missense_Mutation_p.S103F|NADK_uc001aie.3_Missense_Mutation_p.S207F|NADK_uc010nyv.2_Missense_Mutation_p.S71F|NADK_uc009vkx.1_5'UTR	NM_023018	NP_075394	O95544	NADK_HUMAN	Homo sapiens NAD kinase (NADK), transcript variant 1, mRNA.	103					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ kinase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GCTCTTTGGGGACTTGTTCCA	0.587000														107			44		0	0	0.003610	0	0
LIG3	3980	broad.mit.edu	37	17	33316660	33316660	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:33316660C>T	uc002hik.2	+	3	996	c.867C>T	c.(865-867)ttC>ttT	p.F289F	LIG3_uc002hii.3_Silent_p.F289F|LIG3_uc002hij.3_Silent_p.F289F|LIG3_uc010cth.1_Silent_p.F298F	NM_013975	NP_039269	P49916	DNLI3_HUMAN	Homo sapiens ligase III, DNA, ATP-dependent (LIG3), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	289					DNA ligation involved in DNA repair|DNA replication|base-excision repair|cell division|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	TCCAGGACTTCCTTCGGAAAG	0.552000								Other BER factors						51			34		0	0	0.006230	0	0
CLEC4D	338339	broad.mit.edu	37	12	8671612	8671612	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:8671612C>T	uc001qun.3	+	3	433	c.240C>T	c.(238-240)acC>acT	p.T80T		NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN	Homo sapiens C-type lectin domain family 4, member D (CLEC4D), mRNA.	80					innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					GAGGGAGCACCTGGAACTGTT	0.398000														15			7		0	0	0.004482	0	0
TCHH	7062	broad.mit.edu	37	1	152084928	152084928	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:152084928C>T	uc009wne.1	-	2	1037	c.765G>A	c.(763-765)aaG>aaA	p.K255K	TCHH_uc001ezp.2_Silent_p.K255K	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	255					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCTTCTTCCTTCCGGAGCA	0.587000														162			31		0	0	0.009535	0	0
DAB2IP	153090	broad.mit.edu	37	9	124441046	124441046	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:124441046C>T	uc004bln.3	+	1	199	c.130C>T	c.(130-132)Ccg>Tcg	p.P44S		NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	72	Arg-rich.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GGCCGCCACGCCGTTCCGGGT	0.677000														3			3		0	0	0.000602	0	0
ODZ4	26011	broad.mit.edu	37	11	78383099	78383099	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:78383099C>T	uc001ozl.4	-	30	6235	c.5772G>A	c.(5770-5772)tgG>tgA	p.W1924*	ODZ4_uc001ozk.4_Nonsense_Mutation_p.W149*	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1924					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						ATGTGTAGCTCCATGTCTTCC	0.547000														15			14		0	0	0.003163	0	0
SLC4A10	57282	broad.mit.edu	37	2	162661000	162661000	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:162661000G>A	uc002ubx.4	+	2	356	c.172G>A	c.(172-174)Gga>Aga	p.G58R	SLC4A10_uc010fpa.1_Missense_Mutation_p.G70R|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Missense_Mutation_p.G69R|SLC4A10_uc002uby.4_Missense_Mutation_p.G58R	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	58					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GCCCTTGGGAGGAAGAAAAAG	0.433000														25			15		0	0	0.003163	0	0
VHDJH	0	broad.mit.edu	37	16	32077573	32077573	+	RNA	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:32077573C>T	uc010vfu.2	+	0		c.4C>T								Homo sapiens mRNA for immunoglobulin heavy chain, VHDJH rearrangement : VHLI26.																		TACGCAGACTCTGTGAAAGGC	0.517000														227			65		0	0	0.003610	0	0
DDX3X	1654	broad.mit.edu	37	X	41205845	41205845	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:41205845A>C	uc004dfe.3	+	13	2440	c.1585A>C	c.(1585-1587)Att>Ctt	p.I529L	DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_Missense_Mutation_p.I529L|DDX3X_uc011mkq.2_Missense_Mutation_p.I513L|DDX3X_uc011mkr.2_Intron|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	529	Helicase C-terminal.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding	p.R528C(1)|p.R528H(1)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TGTACATCGTATTGGTCGTAC	0.378000										HNSCC(61;0.18)				30			46		0	0	0.003610	0	0
GTF2F1	2962	broad.mit.edu	37	19	6389464	6389464	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:6389464G>A	uc002meq.2	-	3	602	c.317C>T	c.(316-318)tCa>tTa	p.S106L	GTF2F1_uc010xjb.1_5'Flank|GTF2F1_uc010xjc.1_Missense_Mutation_p.S78L	NM_002096	NP_002087	P35269	T2FA_HUMAN	Homo sapiens general transcription factor IIF, polypeptide 1, 74kDa (GTF2F1), mRNA.	106					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	DNA binding|catalytic activity|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						CTTCCTGCCTGATTTGCCGTT	0.612000														77			44		0	0	0.002852	0	0
OR13D1	286365	broad.mit.edu	37	9	107457290	107457290	+	Missense_Mutation	SNP	G	A	A	rs149708960		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:107457290G>A	uc011lvs.2	+	0	588	c.588G>A	c.(586-588)atG>atA	p.M196I		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily D, member 1 (OR13D1), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TTCTGACAATGATGTTGCCTT	0.418000														47			39		0	0	0.006999	0	0
TTC8	123016	broad.mit.edu	37	14	89305844	89305844	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:89305844G>C	uc010ath.3	+	1	297	c.163G>C	c.(163-165)Gat>Cat	p.D55H	TTC8_uc010atg.1_Non-coding_Transcript|TTC8_uc001xxi.3_Missense_Mutation_p.D65H|TTC8_uc001xxj.3_Missense_Mutation_p.D55H|TTC8_uc001xxk.3_Missense_Mutation_p.D55H|TTC8_uc001xxl.3_5'UTR|TTC8_uc010ati.3_5'UTR|TTC8_uc010atj.3_Intron	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	Homo sapiens tetratricopeptide repeat domain 8 (TTC8), transcript variant 2, mRNA.	65					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GGTATACATAGATGAAATTGA	0.328000														40			20		0	0	0.010504	0	0
RNF213	57674	broad.mit.edu	37	17	78318516	78318516	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:78318516C>T	uc002jyh.2	+	29	6671	c.6528C>T	c.(6526-6528)ttC>ttT	p.F2176F	RNF213_uc021uen.1_Silent_p.F2127F	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTGACATCTTCCCAAAAGTCA	0.473000														108			17		0	0	0.010504	0	0
GRXCR2	643226	broad.mit.edu	37	5	145252312	145252312	+	Nonsense_Mutation	SNP	G	A	A	rs151087704	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:145252312G>A	uc003lns.1	-	0	220	c.220C>T	c.(220-222)Cag>Tag	p.Q74*		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	Homo sapiens glutaredoxin, cysteine rich 2 (GRXCR2), mRNA.	74										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GAGCACATCTGGGGCCTGGGG	0.512000														71			34		0	0	0.002836	0	0
INADL	10207	broad.mit.edu	37	1	62586894	62586894	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:62586894C>T	uc001dab.3	+	37	5046	c.4932C>T	c.(4930-4932)ttC>ttT	p.F1644F	INADL_uc001dac.3_Non-coding_Transcript|INADL_uc009wag.3_Silent_p.F428F	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1644					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ATCCCTCCTTCGCTCCTGTCA	0.507000														111			37		0	0	0.008740	0	0
SP140	11262	broad.mit.edu	37	2	231101941	231101941	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:231101941G>A	uc002vql.3	+	1	318	c.203G>A	c.(202-204)cGa>cAa	p.R68Q	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqj.3_Missense_Mutation_p.R68Q|SP140_uc002vqk.2_Missense_Mutation_p.R68Q|SP140_uc002vqn.3_Missense_Mutation_p.R68Q|SP140_uc002vqm.3_Missense_Mutation_p.R68Q|SP140_uc010fxl.3_Missense_Mutation_p.R68Q	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	68	HSR.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATGGGCCTCCGAGACCGCTCC	0.443000														60			33		0	0	0.006230	0	0
MUC16	94025	broad.mit.edu	37	19	9062673	9062673	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9062673G>A	uc002mkp.3	-	2	24977	c.24773C>T	c.(24772-24774)tCc>tTc	p.S8258F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8260	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						TTCCACAGAGGATTGACTAGG	0.502000														50			23		0	0	0.002780	0	0
GBP7	388646	broad.mit.edu	37	1	89599001	89599001	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:89599001C>T	uc001dna.2	-	9	1741	c.1602G>A	c.(1600-1602)atG>atA	p.M534I	GBP2_uc001dmy.1_Intron	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	534						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TTTCCCTCTCCATCTTCTTCT	0.438000														41			42		0	0	0.009718	0	0
CYP4F3	4051	broad.mit.edu	37	19	15760723	15760723	+	Splice_Site	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:15760723G>A	uc010xok.2	+	7	698	c.648_splice	c.e7-1	p.E216_splice	CYP4F3_uc010xol.2_Splice_Site_p.E216_splice|CYP4F3_uc002nbj.3_Splice_Site_p.E216_splice|CYP4F3_uc010xom.2_Splice_Site_p.E67_splice|CYP4F3_uc002nbk.3_Splice_Site_p.E216_splice|CYP4F3_uc010xon.2_5'Flank	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	216					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TATCCTGCAGGAAGCCCAGTG	0.493000														126			52		0	0	0.003610	0	0
OR4C16	219428	broad.mit.edu	37	11	55339824	55339824	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:55339824C>T	uc010rih.2	+	0	221	c.221C>T	c.(220-222)tCc>tTc	p.S74F		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CTCTCTACTTCCATAACCCCT	0.418000														125			68		0	0	0.003610	0	0
LINGO2	158038	broad.mit.edu	37	9	27950040	27950040	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:27950040A>T	uc003zqv.1	-	6	1280	c.630T>A	c.(628-630)caT>caA	p.H210Q	LINGO2_uc010mjf.1_Missense_Mutation_p.H210Q|LINGO2_uc003zqu.1_Missense_Mutation_p.H210Q|LINGO2_uc022bfc.1_Missense_Mutation_p.H210Q	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	210						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGATATTGAGATGCTTCAGAT	0.468000														32			22		0	0	0.010504	0	0
C1orf200	644997	broad.mit.edu	37	1	9714387	9714387	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:9714387C>T	uc001aqc.4	-	0	258	c.108G>A	c.(106-108)caG>caA	p.Q36Q	PIK3CD_uc001aqa.2_Intron|PIK3CD_uc001aqb.4_Intron					Homo sapiens chromosome 1 open reading frame 200 (C1orf200), non-coding RNA.											endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)	9	all_lung(157;0.222)	Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419)		TTGCACTAAGCTGTGGGCTCC	0.582000														66			14		0	0	0.002450	0	0
CNKSR3	154043	broad.mit.edu	37	6	154520941	154520941	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:154520941C>T	uc021zhc.1	-	19	2659	c.2154G>A	c.(2152-2154)aaG>aaA	p.K718K	OPRM1_uc003qpt.1_Intron|CNKSR3_uc003qpv.3_Silent_p.K127K|CNKSR3_uc003qpw.3_Silent_p.K257K|CNKSR3_uc003qpx.3_Silent_p.K256K|CNKSR3_uc010kjh.3_Silent_p.K257K|CNKSR3_uc021zhd.1_Silent_p.K301K|CNKSR3_uc021zhe.1_Silent_p.K231K	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	409					negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TTTCCAGGGCCTTGTGGATGC	0.423000														74			25		0	0	0.004656	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810191	106810191	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:106810191C>T	uc009yxn.1	-	3	1591	c.1201G>A	c.(1201-1203)Gac>Aac	p.D401N	GUCY1A2_uc001pjg.1_Missense_Mutation_p.D401N|GUCY1A2_uc010rvo.1_Missense_Mutation_p.D401N	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	401					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CTTACCTTGTCTTTATTTTCA	0.423000														97			24		0	0	0.005443	0	0
PDPN	10630	broad.mit.edu	37	1	13936921	13936921	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:13936921G>A	uc001avd.3	+	2	518	c.469G>A	c.(469-471)Gag>Aag	p.E157K	PDPN_uc001avc.3_Missense_Mutation_p.E157K|PDPN_uc009vob.3_Missense_Mutation_p.E39K|PDPN_uc009voc.3_Missense_Mutation_p.E39K|PDPN_uc001ave.3_Missense_Mutation_p.E39K|PDPN_uc001avf.3_Missense_Mutation_p.E39K	NM_006474	NP_001006625	Q86YL7	PDPN_HUMAN	Homo sapiens podoplanin (PDPN), transcript variant 1, mRNA.	81					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane		p.E157K(4)		endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		CATTCGCATCGAGGATCTGCC	0.463000														71			19		0	0	0.008871	0	0
NPC1	4864	broad.mit.edu	37	18	21116700	21116700	+	Missense_Mutation	SNP	A	G	G	rs80358259		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:21116700A>G	uc002kum.4	-	20	3456	c.3182T>C	c.(3181-3183)aTa>aCa	p.I1061T	NPC1_uc010xaz.2_Missense_Mutation_p.I794T	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	1061			I -> T (in NPC1; late infantile form).		autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATTACTGGCTATAAGTCGGGC	0.522000														17			13		0	0	0.002450	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882983	228882983	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:228882983G>A	uc002vpq.2	-	6	2634	c.2587C>T	c.(2587-2589)Cca>Tca	p.P863S	SPHKAP_uc002vpp.2_Missense_Mutation_p.P863S|SPHKAP_uc010zlx.1_Missense_Mutation_p.P863S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	863						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGACCGTTGGGGACCTTTGT	0.493000														70			47		0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13769134	13769134	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:13769134C>T	uc003jfd.2	-	57	9874	c.9832G>A	c.(9832-9834)Gcc>Acc	p.A3278T	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3278	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCAGCAATGGCTTTGTCTTTA	0.468000									Kartagener syndrome					144			68		0	0	0.003610	0	0
LSR	51599	broad.mit.edu	37	19	35741242	35741242	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:35741242C>T	uc002nyl.3	+	1	501	c.278C>T	c.(277-279)aCc>aTc	p.T93I	LSR_uc010xsr.2_Missense_Mutation_p.T93I|LSR_uc002nym.3_Missense_Mutation_p.T93I|LSR_uc002nyn.3_Missense_Mutation_p.T93I|LSR_uc002nyo.3_Missense_Mutation_p.T93I|LSR_uc002nyp.3_Missense_Mutation_p.T56I	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA.	93	Ig-like V-type.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ATCCAGGTGACCGTGTCCAAC	0.612000														225			73		0	0	0.003610	0	0
DMWD	1762	broad.mit.edu	37	19	46289715	46289715	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:46289715C>T	uc002pdj.1	-	2	1085	c.1039G>A	c.(1039-1041)Gat>Aat	p.D347N	DMWD_uc021uwc.1_5'UTR|DMWD_uc010eko.1_Missense_Mutation_p.D32N	NM_004943	NP_004934	Q09019	DMWD_HUMAN	Homo sapiens dystrophia myotonica, WD repeat containing (DMWD), mRNA.	347					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		ACCAGGTCATCTTCGCCACCC	0.642000														66			22		0	0	0.003954	0	0
SOX7	83595	broad.mit.edu	37	8	10583900	10583900	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:10583900G>A	uc011kwz.2	-	5	704	c.671C>T	c.(670-672)cCc>cTc	p.P224L	BC043573_uc003wtg.1_5'Flank|SOX7_uc003wtf.3_Missense_Mutation_p.P172L	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	172					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		CCGGAGGCTGGGCAGGGCAGT	0.731000														19			10		0	0	0.006214	0	0
OR1J1	347168	broad.mit.edu	37	9	125239481	125239481	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:125239481C>T	uc011lyu.2	-	0	725	c.725G>A	c.(724-726)gGa>gAa	p.G242E	OR1J2_uc004bmj.2_Intron	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 1 (OR1J1), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C241Y(1)		endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GAGGTGGGATCCACAAGTGGA	0.458000														17			29		0	0	0.007291	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41051193	41051193	+	Splice_Site	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:41051193C>T	uc003jmj.4	-	13	1721	c.1231_splice	c.e13-1	p.E411_splice	HEATR7B2_uc003jmi.4_Splice_Site	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	411							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CTGGTTTCTCCTTTAAGAAAG	0.433000														10			3		0	0	0.004672	0	0
SEPHS1	22929	broad.mit.edu	37	10	13380732	13380732	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:13380732G>A	uc001imk.3	-	2	647	c.270C>T	c.(268-270)taC>taT	p.Y90Y	SEPHS1_uc001imh.3_5'Flank|SEPHS1_uc010qbs.2_Silent_p.Y42Y|SEPHS1_uc010qbt.2_Silent_p.Y23Y|SEPHS1_uc021pnc.1_Silent_p.Y90Y|SEPHS1_uc021pnd.1_Silent_p.Y90Y|SEPHS1_uc009xje.3_Silent_p.Y90Y	NM_012247	NP_001182531	P49903	SPS1_HUMAN	Homo sapiens selenophosphate synthetase 1 (SEPHS1), transcript variant 1, mRNA.	90					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						CTACGATCGGGTAAATGTAAT	0.468000														107			37		0	0	0.008740	0	0
TFPT	29844	broad.mit.edu	37	19	54611388	54611389	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:54611388_54611389GG>AA	uc010yej.1	-	4	992_993	c.586_587CC>TT	c.(586-588)cca>TTa	p.P196L		NM_013342	NP_037474	P0C1Z6	TFPT_HUMAN	Homo sapiens TCF3 (E2A) fusion partner (in childhood Leukemia) (TFPT), mRNA.	196					DNA recombination|DNA repair|apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|cytoplasm	DNA binding|protein binding			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					TCCATCCCGTGGCACTCGCCGC	0.693000			T	TCF3	pre-B ALL									48			16		0	0	0.004672	0	0
ASNS	440	broad.mit.edu	37	7	97482446	97482446	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:97482446C>T	uc003uot.4	-	11	1908	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K	ASNS_uc011kin.2_Missense_Mutation_p.E385K|ASNS_uc011kio.2_Missense_Mutation_p.E447K|ASNS_uc003uou.4_Missense_Mutation_p.E468K|ASNS_uc003uov.4_Missense_Mutation_p.E468K|ASNS_uc003uox.4_Missense_Mutation_p.E385K	NM_133436	NP_001171548	P08243	ASNS_HUMAN	Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA.	468	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	ATP binding|asparagine synthase (glutamine-hydrolyzing) activity			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTGAAGGCTTCTTTTGGTCGC	0.368000														40			36		0	0	0.002836	0	0
PIGG	54872	broad.mit.edu	37	4	520864	520864	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:520864C>T	uc003gak.4	+	9	2242	c.2106C>T	c.(2104-2106)gcC>gcT	p.A702A	PIGG_uc003gaj.4_Silent_p.A694A|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Silent_p.A569A|PIGG_uc003gal.4_Silent_p.A613A	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	702					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	p.L689_A694delLSVLAA(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TCCTGGCTGCCCTCTCCCTCC	0.567000														19			5		0	0	0.001168	0	0
ZNF621	285268	broad.mit.edu	37	3	40571772	40571772	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:40571772C>T	uc003ckm.2	+	3	440	c.224C>T	c.(223-225)cCc>cTc	p.P75L	ZNF621_uc003ckn.2_Missense_Mutation_p.P75L|ZNF621_uc003cko.2_Missense_Mutation_p.P40L|ZNF621_uc011aze.1_Missense_Mutation_p.P67L	NM_001098414	NP_940886	Q6ZSS3	ZN621_HUMAN	Homo sapiens zinc finger protein 621 (ZNF621), transcript variant 2, mRNA.	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		GGCCCAGATCCCTGGGACACC	0.483000														78			20		0	0	0.010504	0	0
ABCC6	368	broad.mit.edu	37	16	16267203	16267203	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:16267203G>A	uc002den.4	-	20	2762	c.2725C>T	c.(2725-2727)Cct>Tct	p.P909S	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	909					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TCATCCAGAGGAACCTCTGTC	0.552000														30			26		0	0	0.004656	0	0
TPT1	7178	broad.mit.edu	37	13	45913690	45913690	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:45913690A>C	uc001uzy.1	-	3	434	c.341T>G	c.(340-342)tTt>tGt	p.F114C	TPT1_uc001uzz.1_Missense_Mutation_p.F80C|SNORA31_uc001vaa.1_5'Flank|TPT1-AS1_uc010tfr.2_5'Flank|TPT1-AS1_uc001vac.3_5'Flank	NM_003295	NP_003286	P13693	TCTP_HUMAN	Homo sapiens tumor protein, translationally-controlled 1 (TPT1), mRNA.	114					anti-apoptosis|response to virus	extracellular space|multivesicular body	calcium ion binding|protein binding			lung(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)		CCCTGTCATAAAAGGTTTTAC	0.328000														63			31		0	0	0.003755	0	0
SLC5A9	200010	broad.mit.edu	37	1	48698123	48698123	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:48698123C>T	uc001crn.2	+	8	1109	c.1057C>T	c.(1057-1059)Ccc>Tcc	p.P353S	SLC5A9_uc010oms.1_Non-coding_Transcript|SLC5A9_uc001cro.2_Missense_Mutation_p.P328S|SLC5A9_uc010omt.1_Missense_Mutation_p.P342S|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_5'UTR	NM_001135181	NP_001128653	Q2M3M2	SC5A9_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA.	328						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GAAGATCCTCCCCATGTTCTT	0.572000														40			16		0	0	0.006122	0	0
KCNIP1	30820	broad.mit.edu	37	5	170139870	170139870	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:170139870G>A	uc003mas.3	+	1	603	c.74G>A	c.(73-75)tGg>tAg	p.W25*	KCNIP1_uc003map.3_Intron|KCNIP1_uc003mat.3_Intron|KCNIP1_uc010jjp.3_Intron|KCNIP1_uc010jjq.3_Intron	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Homo sapiens Kv channel interacting protein 1 (KCNIP1), transcript variant 1, mRNA.	25					detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCGCCTGGTGGTATTACCAG	0.393000														58			35		0	0	0.006230	0	0
RALGPS2	55103	broad.mit.edu	37	1	178875917	178875917	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:178875917C>T	uc001glz.3	+	18	1975	c.1637C>T	c.(1636-1638)tCg>tTg	p.S546L	RALGPS2_uc010pnb.2_Missense_Mutation_p.S520L	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Homo sapiens Ral GEF with PH domain and SH3 binding motif 2 (RALGPS2), mRNA.	546	PH.|Required for stimulation of nucleotide exchange by RALA (By similarity).				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	p.S546L(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TTAGGAAATTCGTACAAGTTT	0.333000														24			6		0	0	0.004482	0	0
TBX22	50945	broad.mit.edu	37	X	79286410	79286410	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:79286410C>T	uc010nmg.1	+	8	1497	c.1363C>T	c.(1363-1365)Ctg>Ttg	p.L455L	TBX22_uc004edi.1_Silent_p.L335L|TBX22_uc004edj.1_Silent_p.L455L	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN	Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.	455					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AAATATTTTTCTGCCAAACTC	0.383000														11			22		0	0	0.002780	0	0
PACS2	23241	broad.mit.edu	37	14	105848902	105848902	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:105848902C>T	uc001yqu.3	+	13	2006	c.1502C>T	c.(1501-1503)tCg>tTg	p.S501L	PACS2_uc001yqs.2_Missense_Mutation_p.S422L|PACS2_uc001yqt.3_Missense_Mutation_p.S497L|PACS2_uc001yqv.3_Missense_Mutation_p.S501L	NM_001100913	NP_001094383	Q86VP3	PACS2_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 2 (PACS2), transcript variant 1, mRNA.	497					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GTCAACACCTCGGACTGGCAG	0.582000														76			43		0	0	0.002852	0	0
OR9G4	283189	broad.mit.edu	37	11	56510580	56510580	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:56510580G>A	uc010rjo.2	-	0	708	c.708C>T	c.(706-708)atC>atT	p.I236I		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TAGCCAGGAGGATGTTGACAT	0.488000														61			33		0	0	0.003755	0	0
HIVEP3	59269	broad.mit.edu	37	1	41979178	41979178	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:41979178G>A	uc001cgz.4	-	7	6927	c.5714C>T	c.(5713-5715)gCc>gTc	p.A1905V	HIVEP3_uc001cha.4_Missense_Mutation_p.A1905V|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1905					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGAGGCGGGGGCATCTGGGGG	0.687000														19			4		0	0	0.009096	0	0
PAQR3	152559	broad.mit.edu	37	4	79847831	79847831	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:79847831G>A	uc003hlp.1	-	3	750	c.546C>T	c.(544-546)atC>atT	p.I182I	PAQR3_uc003hlm.3_Non-coding_Transcript|PAQR3_uc003hln.3_Non-coding_Transcript|PAQR3_uc003hlq.1_Silent_p.I64I	NM_001040202	NP_001035292	Q6TCH7	PAQR3_HUMAN	Homo sapiens progestin and adipoQ receptor family member III (PAQR3), mRNA.	182						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						ACACTGCCAGGATCATAGCAA	0.408000														116			25		0	0	0.007291	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18691095	18691095	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:18691095G>A	uc001rdt.3	+	23	3322	c.3206G>A	c.(3205-3207)cGa>cAa	p.R1069Q	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.R1110Q|PIK3C2G_uc010sic.2_Missense_Mutation_p.R888Q	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1069	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TACAGGGACCGAGCTCCTTTC	0.368000														55			16		0	0	0.004007	0	0
STK10	6793	broad.mit.edu	37	5	171471913	171471913	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:171471913G>A	uc003mbo.1	-	18	3180	c.2880C>T	c.(2878-2880)ttC>ttT	p.F960F		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	960							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AACTGTAGGGGAAGAACTTGG	0.582000														58			22		0	0	0.002299	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396887	38396887	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:38396887G>A	uc022bgy.1	+	0	1142	c.1142G>A	c.(1141-1143)gGc>gAc	p.G381D	ALDH1B1_uc004aay.3_Missense_Mutation_p.G381D	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	381					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CAGAAGGAGGGCGCAAAACTC	0.567000														24			22		0	0	0.003330	0	0
TSPAN12	23554	broad.mit.edu	37	7	120446602	120446602	+	Splice_Site	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:120446602C>T	uc003vjk.3	-	7	986	c.612_splice	c.e7+1	p.E204_splice	TSPAN12_uc010lkj.3_Splice_Site_p.E77_splice	NM_012338	NP_036470	O95859	TSN12_HUMAN	Homo sapiens tetraspanin 12 (TSPAN12), mRNA.	204					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					TATGGCCTCACCTCTTGATAA	0.393000														18			67		0	0	0.003610	0	0
OR5B3	441608	broad.mit.edu	37	11	58170535	58170535	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:58170535C>T	uc010rkf.2	-	0	348	c.348G>A	c.(346-348)atG>atA	p.M116I		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGTCATAGGCCATTGAGGCCA	0.463000														68			33		0	0	0.002836	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986304	51986304	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:51986304C>T	uc002pwv.1	+	4	890	c.890C>T	c.(889-891)cCt>cTt	p.P297L		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	297	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGGAGCAATCCTGATGATTTC	0.537000														132			64		0	0	0.003610	0	0
C15orf33	196951	broad.mit.edu	37	15	49867220	49867220	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:49867220G>A	uc001zxl.2	-	7	927	c.633C>T	c.(631-633)ctC>ctT	p.L211L	C15orf33_uc001zxm.3_Silent_p.L211L	NM_152647	NP_689860	Q96M60	CO033_HUMAN	Homo sapiens chromosome 15 open reading frame 33 (C15orf33), mRNA.	211										endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	25		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		TAAATTTATGGAGAAACCACC	0.289000														34			5		0	0	0.001168	0	0
RGS22	26166	broad.mit.edu	37	8	101075756	101075756	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:101075756C>T	uc003yjb.1	-	7	1435	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	RGS22_uc003yja.1_Missense_Mutation_p.E233K|RGS22_uc003yjc.1_Missense_Mutation_p.E402K|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.E318K	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	414					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.K413E(1)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTTTCAAACTCCTTTCTATTG	0.388000														78			26		0	0	0.003954	0	0
AGBL4	84871	broad.mit.edu	37	1	49128876	49128876	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:49128876G>A	uc010omx.1	-	6	866	c.708C>T	c.(706-708)ttC>ttT	p.F236F	AGBL4_uc001cru.2_Silent_p.F224F|AGBL4_uc010omw.1_5'UTR|AGBL4_uc010omy.1_Intron|AGBL4_uc001crv.1_Silent_p.F77F	NM_032785	NP_116174	Q5VU57	CBPC6_HUMAN	Homo sapiens ATP/GTP binding protein-like 4 (AGBL4), mRNA.	224					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.S236A(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		GTCCTGTGATGAATACCACCT	0.493000														85			39		0	0	0.003214	0	0
LPAR4	2846	broad.mit.edu	37	X	78011197	78011197	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:78011197C>T	uc022bzj.1	+	0	831	c.831C>T	c.(829-831)tcC>tcT	p.S277S	LPAR4_uc010nme.3_Silent_p.S277S	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	277						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TGGTGCGCTCCCAAGCTATTA	0.408000														4			14		0	0	0.001855	0	0
ST18	9705	broad.mit.edu	37	8	53030941	53030941	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:53030941G>A	uc003xqz.2	-	18	2972	c.2816C>T	c.(2815-2817)tCc>tTc	p.S939F	ST18_uc011ldq.1_Missense_Mutation_p.S586F|ST18_uc011ldr.1_Missense_Mutation_p.S904F|ST18_uc011lds.1_Missense_Mutation_p.S844F|ST18_uc003xra.2_Missense_Mutation_p.S939F	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	939						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTTAAGGTTGGATTCATTCAG	0.323000														52			14		0	0	0.003163	0	0
USP19	10869	broad.mit.edu	37	3	49148963	49148963	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:49148963G>C	uc003cwd.2	-	19	3197	c.2878C>G	c.(2878-2880)Cca>Gca	p.P960A	USP19_uc003cwa.3_Missense_Mutation_p.P768A|USP19_uc003cwb.3_Intron|USP19_uc003cvz.4_Missense_Mutation_p.P1063A|USP19_uc011bcg.2_Missense_Mutation_p.P1051A|USP19_uc003cwc.2_Missense_Mutation_p.P718A|USP19_uc011bch.2_Missense_Mutation_p.P1061A	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	960					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCGCCAGCTGGCAAGGAGCCA	0.612000														38			15		0	0	0.002450	0	0
CPT2	1376	broad.mit.edu	37	1	53679049	53679049	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:53679049C>T	uc001cvb.4	+	4	2274	c.1759C>T	c.(1759-1761)Ctg>Ttg	p.L587L		NM_000098	NP_000089	P23786	CPT2_HUMAN	Homo sapiens carnitine palmitoyltransferase 2 (CPT2), nuclear gene encoding mitochondrial protein, mRNA.	587					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	CCACAATGTCCTGTCCACGAG	0.557000														88			36		0	0	0.003271	0	0
MEP1A	4224	broad.mit.edu	37	6	46806801	46806801	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:46806801C>T	uc011dwh.1	+	12	2261	c.2253C>T	c.(2251-2253)atC>atT	p.I751I	MEP1A_uc010jzh.1_Silent_p.I723I|MEP1A_uc011dwg.1_Silent_p.I445I|MEP1A_uc011dwi.1_Silent_p.I623I	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	723					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GCATGGTGATCGGAGGCACGG	0.587000														112			41		0	0	0.006999	0	0
IL28B	282617	broad.mit.edu	37	19	39735076	39735076	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:39735076C>T	uc010xut.2	-	1	241	c.239G>A	c.(238-240)tGg>tAg	p.W80*	IL28B_uc010xuu.2_Nonsense_Mutation_p.W80*	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	Homo sapiens interleukin 28B (interferon, lambda 3) (IL28B), mRNA.	80					response to virus	extracellular space	cytokine activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CCTCAGGTCCCAGGTCCTGGG	0.647000														17			6		0	0	0.003080	0	0
MYO18B	84700	broad.mit.edu	37	22	26164884	26164884	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:26164884A>G	uc003abz.1	+	3	1251	c.1001A>G	c.(1000-1002)aAg>aGg	p.K334R	MYO18B_uc003aca.1_Missense_Mutation_p.K215R|MYO18B_uc010guy.1_Missense_Mutation_p.K215R|MYO18B_uc010guz.1_Missense_Mutation_p.K215R|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	334						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCCCAGAATAAGAAGGACAAA	0.552000														14			4		0	0	0.009096	0	0
LCA5	167691	broad.mit.edu	37	6	80223162	80223162	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:80223162G>A	uc003piy.3	-	3	1099	c.487C>T	c.(487-489)Cgt>Tgt	p.R163C	LCA5_uc003pix.3_Missense_Mutation_p.R163C|LCA5_uc011dyr.2_Missense_Mutation_p.R163C	NM_181714	NP_859065	Q86VQ0	LCA5_HUMAN	Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA.	163					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TTGTTATGACGAAATATAAGT	0.353000														61			27		0	0	0.006320	0	0
ATR	545	broad.mit.edu	37	3	142278242	142278242	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:142278242G>A	uc003eux.4	-	6	1705	c.1583C>T	c.(1582-1584)cCt>cTt	p.P528L		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	528					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CACTACAGAAGGTTTCTTCTT	0.348000								Other conserved DNA damage response genes						41			15		0	0	0.004007	0	0
FAM82A2	55177	broad.mit.edu	37	15	41044186	41044186	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:41044186G>A	uc001zmp.1	-	2	563	c.378C>T	c.(376-378)gtC>gtT	p.V126V	FAM82A2_uc001zmo.1_Silent_p.V126V|FAM82A2_uc001zmq.1_Silent_p.V126V	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN	Homo sapiens family with sequence similarity 82, member A2 (FAM82A2), mRNA.	126					apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						TTACTCACCGGACCTCCCCAA	0.592000														36			17		0	0	0.004990	0	0
TMEM132A	54972	broad.mit.edu	37	11	60696268	60696268	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:60696268G>A	uc001nqi.3	+	3	895	c.702G>A	c.(700-702)gtG>gtA	p.V234V	TMEM132A_uc001nqj.3_Silent_p.V234V|TMEM132A_uc001nqk.3_Silent_p.V247V|TMEM132A_uc001nql.1_Silent_p.V247V	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	234						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCCTCCCAGTGGGGGGTGTGG	0.711000														14			5		0	0	0.000602	0	0
ISL1	3670	broad.mit.edu	37	5	50685493	50685493	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:50685493C>T	uc003jor.3	+	3	1040	c.492C>T	c.(490-492)tcC>tcT	p.S164S		NM_002202	NP_002193	P61371	ISL1_HUMAN	Homo sapiens ISL LIM homeobox 1 (ISL1), mRNA.	164					generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				AGCCCATCTCCGCCAGGCAGC	0.726000														19			7		0	0	0.003080	0	0
C17orf47	284083	broad.mit.edu	37	17	56620146	56620146	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:56620146G>A	uc002iwq.2	-	0	1588	c.1402C>T	c.(1402-1404)Cct>Tct	p.P468S	SEPT4_uc010wny.2_5'Flank|SEPT4_uc010wnx.2_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA.	468										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCACAGAAAGGGCTAGAGTCT	0.478000														181			41		0	0	0.006230	0	0
PRDM4	11108	broad.mit.edu	37	12	108145331	108145331	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:108145331G>A	uc001tmp.3	-	4	1424	c.987C>T	c.(985-987)gtC>gtT	p.V329V	PRDM4_uc001tmq.3_Intron	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN	Homo sapiens PR domain containing 4 (PRDM4), mRNA.	329					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TGATGGAGGAGACAGCCACAG	0.498000														26			34		0	0	0.004878	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585331	70585331	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:70585331C>T	uc003xyl.3	-	9	3027	c.2320G>A	c.(2320-2322)Gaa>Aaa	p.E774K	SLCO5A1_uc010lzb.3_Missense_Mutation_p.E719K|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	774						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)			AGGGGAAATTCTCTCTGCCTC	0.517000														67			35		0	0	0.006230	0	0
MUC3A	4584	broad.mit.edu	37	7	100551597	100551597	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:100551597C>T	uc003uxl.1	+	0	848	c.48C>T	c.(46-48)atC>atT	p.I16I	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ACACCCCAATCAGTTCCTTTA	0.502000														399			20		0	0	0.003610	0	0
PDE1A	5136	broad.mit.edu	37	2	183387070	183387070	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:183387070C>T	uc002uos.3	-	1	118	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	PDE1A_uc010zfp.1_5'UTR|PDE1A_uc002uoq.1_Missense_Mutation_p.E12K|PDE1A_uc010zfq.1_Missense_Mutation_p.E12K|PDE1A_uc002uov.1_Non-coding_Transcript	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	12					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			GTGGTGTTTTCCAATTCTTCA	0.423000														49			23		0	0	0.004656	0	0
FGA	2243	broad.mit.edu	37	4	155505503	155505503	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:155505503C>T	uc003iod.1	-	5	2432	c.2374G>A	c.(2374-2376)Gca>Aca	p.A792T		NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	792	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CACTGGTCTGCATCCCTGTCA	0.527000														60			32		0	0	0.002096	0	0
OR51A7	119687	broad.mit.edu	37	11	4929383	4929383	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:4929383C>T	uc010qyq.2	+	0	784	c.784C>T	c.(784-786)Cac>Tac	p.H262Y		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCCATGCATCACTTTGCCAA	0.488000														138			63		0	0	0.003610	0	0
KALRN	8997	broad.mit.edu	37	3	124053225	124053225	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:124053225G>A	uc003ehg.3	+	8	1651	c.1524G>A	c.(1522-1524)ctG>ctA	p.L508L	KALRN_uc010hrv.1_Silent_p.L508L|KALRN_uc003ehf.1_Silent_p.L508L|KALRN_uc011bjy.1_Silent_p.L508L	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	508					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ACCAGGTGCTGGACGTGGTGC	0.627000														71			50		0	0	0.003610	0	0
NKX2-2	4821	broad.mit.edu	37	20	21492948	21492948	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:21492948C>T	uc002wsi.3	-	1	792	c.435G>A	c.(433-435)cgG>cgA	p.R145R		NM_002509	NP_002500	O95096	NKX22_HUMAN	Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA.	145					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCCGAAAGCGCCGCTCCAGCT	0.672000														20			9		0	0	0.008291	0	0
MYO5C	55930	broad.mit.edu	37	15	52517715	52517715	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:52517715G>A	uc010bff.3	-	25	3384	c.3222C>T	c.(3220-3222)ttC>ttT	p.F1074F	MYO5C_uc010uga.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	1074						myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCTCTTTTTCGAACTCAGAGA	0.368000														72			10		0	0	0.006214	0	0
LINC00174	285908	broad.mit.edu	37	7	65842553	65842553	+	RNA	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:65842553C>T	uc003tux.3	-	4		c.2902G>A								Homo sapiens long intergenic non-protein coding RNA 174 (LINC00174), non-coding RNA.																		CGTGCTGTTCCTGGCGAGGCT	0.572000														13			4		0	0	0.000602	0	0
ARAP2	116984	broad.mit.edu	37	4	36168569	36168569	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:36168569G>A	uc003gsq.2	-	9	2296	c.1958C>T	c.(1957-1959)cCc>cTc	p.P653L	ARAP2_uc003gsr.1_Missense_Mutation_p.P653L	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	653	PH 2.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						ACTCCTGTAGGGAGTGATTAT	0.358000														42			11		0	0	0.000978	0	0
RTN2	6253	broad.mit.edu	37	19	45997524	45997524	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:45997524C>T	uc002pcb.3	-	3	944	c.714G>A	c.(712-714)gaG>gaA	p.E238E	RTN2_uc002pcc.3_Silent_p.E238E|RTN2_uc002pcd.3_Non-coding_Transcript	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	238						integral to endoplasmic reticulum membrane	signal transducer activity	p.E238*(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GCTTTTCTTCCTCTTCCAGCA	0.612000														53			26		0	0	0.006320	0	0
MAVS	57506	broad.mit.edu	37	20	3838380	3838380	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:3838380C>T	uc002wjw.4	+	2	388	c.216C>T	c.(214-216)ttC>ttT	p.F72F	MAVS_uc002wjv.3_Silent_p.F72F|MAVS_uc002wjx.4_Intron|MAVS_uc002wjy.4_5'UTR	NM_020746	NP_001193420	Q7Z434	MAVS_HUMAN	Homo sapiens mitochondrial antiviral signaling protein (MAVS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	72	CARD.|Required for interaction with NLRX1.				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of IP-10 production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TGGAGTACTTCATTGCGGCAC	0.627000														99			33		0	0	0.006999	0	0
PRTFDC1	56952	broad.mit.edu	37	10	25226281	25226281	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:25226281G>A	uc001ise.1	-	2	200	c.171C>T	c.(169-171)gcC>gcT	p.A57A	PRTFDC1_uc010qdd.1_Silent_p.A57A|PRTFDC1_uc009xkm.1_Non-coding_Transcript	NM_020200	NP_064585	Q9NRG1	PRDC1_HUMAN	Homo sapiens phosphoribosyl transferase domain containing 1 (PRTFDC1), mRNA.	57					GMP salvage|IMP salvage|adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|grooming behavior|hypoxanthine metabolic process|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						TAATATCCTTGGCCAGCCGCT	0.368000														42			10		0	0	0.000978	0	0
MYH1	4619	broad.mit.edu	37	17	10400472	10400472	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:10400472C>T	uc002gmo.3	-	32	4664	c.4570G>A	c.(4570-4572)Gga>Aga	p.G1524R	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1524						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATGCGCTTTCCTCCTTCTGCA	0.363000														22			8		0	0	0.004482	0	0
FBXO4	26272	broad.mit.edu	37	5	41941382	41941382	+	Nonstop_Mutation	SNP	G	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:41941382G>T	uc003jmq.3	+	6	1219	c.1163G>T	c.(1162-1164)tGa>tTa	p.*388L		NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN	Homo sapiens F-box protein 4 (FBXO4), transcript variant 1, mRNA.	0					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein polyubiquitination|telomere maintenance|ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex|cytoplasm	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	p.R387K(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				CGTGCAAGATGATTCTCTTTT	0.408000														40			13		6.72482e-11	7.69647e-11	0.003163	1	0
COL6A3	1293	broad.mit.edu	37	2	238283548	238283548	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:238283548C>T	uc002vwl.2	-	7	3471	c.3186G>A	c.(3184-3186)caG>caA	p.Q1062Q	COL6A3_uc002vwo.2_Silent_p.Q856Q|COL6A3_uc010znj.1_Silent_p.Q455Q|COL6A3_uc002vwq.3_Silent_p.Q856Q|COL6A3_uc002vwr.3_Silent_p.Q655Q	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1062	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGACCCGGTCCTGGCCCACAT	0.587000														29			15		0	0	0.004990	0	0
CD200R1	131450	broad.mit.edu	37	3	112648329	112648329	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:112648329C>T	uc003dzj.1	-	3	461	c.228G>A	c.(226-228)atG>atA	p.M76I	CD200R1_uc003dzk.1_Missense_Mutation_p.M53I|CD200R1_uc011bhx.1_Missense_Mutation_p.M31I|CD200R1_uc003dzl.1_Missense_Mutation_p.M76I|CD200R1_uc003dzm.1_Missense_Mutation_p.M53I	NM_138806	NP_620161	Q8TD46	MO2R1_HUMAN	Homo sapiens CD200 receptor 1 (CD200R1), transcript variant 1, mRNA.	53	Ig-like V-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						CATTTGTAGCCATCTTTACAG	0.373000														38			21		0	0	0.001882	0	0
NELL1	4745	broad.mit.edu	37	11	20939733	20939733	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:20939733C>T	uc009yid.3	+	6	846	c.693C>T	c.(691-693)atC>atT	p.I231I	NELL1_uc010rdp.2_Intron|NELL1_uc001mqe.3_Silent_p.I203I|NELL1_uc001mqf.3_Silent_p.I203I|NELL1_uc010rdo.2_Silent_p.I146I	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	203					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.C230*(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TCAAGGGGATCATCCAAGATG	0.378000														86			38		0	0	0.008740	0	0
OR51F2	119694	broad.mit.edu	37	11	4843076	4843076	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:4843076G>A	uc010qyn.2	+	0	461	c.461G>A	c.(460-462)cGa>cAa	p.R154Q		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCAATGCCCGAATTGCCAAG	0.463000														133			80		0	0	0.003610	0	0
TP63	8626	broad.mit.edu	37	3	189612073	189612073	+	Missense_Mutation	SNP	G	A	A	rs142762485		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:189612073G>A	uc003fry.2	+	13	1914	c.1825G>A	c.(1825-1827)Gaa>Aaa	p.E609K	TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Missense_Mutation_p.E515K|TP63_uc003fsd.2_3'UTR|TP63_uc021xir.1_3'UTR|TP63_uc010hzd.1_Missense_Mutation_p.E430K	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	609					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E609K(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GCAGCTCCACGAATTCTCCTC	0.567000										HNSCC(45;0.13)				57			23		0	0	0.003330	0	0
MBD3L1	85509	broad.mit.edu	37	19	8953474	8953474	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:8953474G>A	uc002mko.2	+	0	206	c.120G>A	c.(118-120)acG>acA	p.T40T		NM_145208	NP_660209	Q8WWY6	MB3L1_HUMAN	Homo sapiens methyl-CpG binding domain protein 3-like 1 (MBD3L1), mRNA.	40	Transcription repressor.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						GGCCAGTAACGAGAATTACAC	0.507000														46			18		0	0	0.006122	0	0
SLC7A1	6541	broad.mit.edu	37	13	30090380	30090380	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:30090380G>A	uc001uso.3	-	11	2068	c.1681C>T	c.(1681-1683)Ccc>Tcc	p.P561S		NM_003045	NP_003036	P30825	CTR1_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 (SLC7A1), mRNA.	561					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGCAGGAAGGGAACCTGAAGA	0.537000														26			4		0	0	0.009096	0	0
FABP1	2168	broad.mit.edu	37	2	88425840	88425840	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:88425840C>T	uc002sst.2	-	1	209	c.95G>A	c.(94-96)gGg>gAg	p.G32E		NM_001443	NP_001434	P07148	FABPL_HUMAN	Homo sapiens fatty acid binding protein 1, liver (FABP1), mRNA.	32					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						GATATCCTTCCCCTTCTGGAT	0.522000														141			65		0	0	0.003610	0	0
CCDC40	55036	broad.mit.edu	37	17	78058567	78058567	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:78058567G>A	uc010dht.3	+	12	2046	c.2015G>A	c.(2014-2016)gGt>gAt	p.G672D	CCDC40_uc021uem.1_Missense_Mutation_p.G672D|CCDC40_uc002jxm.4_Missense_Mutation_p.G455D|CCDC40_uc002jxn.4_Missense_Mutation_p.G68D	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	672					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AAAATCAACGGTGACATTGCC	0.527000														18			13		0	0	0.001855	0	0
HTR3B	9177	broad.mit.edu	37	11	113803129	113803129	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:113803129C>T	uc001pok.3	+	4	625	c.487C>T	c.(487-489)Cca>Tca	p.P163S	HTR3B_uc001pol.3_Missense_Mutation_p.P152S	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	163					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		ATATGCTTTTCCATTTGATGT	0.453000														49			15		0	0	0.003163	0	0
CCDC110	256309	broad.mit.edu	37	4	186381146	186381146	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:186381146T>A	uc003ixu.4	-	5	671	c.595A>T	c.(595-597)Aac>Tac	p.N199Y	CCDC110_uc003ixv.4_Missense_Mutation_p.N162Y|CCDC110_uc011ckt.1_Missense_Mutation_p.N199Y	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.	199						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		CGATAAAAGTTATTATAATTC	0.338000														23			7		0	0	0.001984	0	0
WDR72	256764	broad.mit.edu	37	15	53908079	53908079	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:53908079G>A	uc002acj.2	-	14	2366	c.2324C>T	c.(2323-2325)tCc>tTc	p.S775F	WDR72_uc010bfi.1_Missense_Mutation_p.S775F	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	775										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CATTTTTTTGGAGATCTTCAT	0.408000														61			44		0	0	0.002852	0	0
MYBPC2	4606	broad.mit.edu	37	19	50967675	50967675	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:50967675G>A	uc002psf.2	+	26	3352	c.3301G>A	c.(3301-3303)Gga>Aga	p.G1101R		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	1101	Ig-like C2-type 7.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CAATTACCAAGGAGTCCTGAC	0.577000														16			3		0	0	0.009096	0	0
SPARCL1	8404	broad.mit.edu	37	4	88411446	88411446	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:88411446C>T	uc010ikm.3	-	7	2082	c.1510G>A	c.(1510-1512)Gat>Aat	p.D504N	SPARCL1_uc011cdc.2_Missense_Mutation_p.D379N|SPARCL1_uc003hqs.4_Missense_Mutation_p.D504N|SPARCL1_uc011cdd.2_Missense_Mutation_p.D379N	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	504	Kazal-like.				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CCAAAATAATCCAGCTGGAGT	0.458000														165			75		0	0	0.003610	0	0
IL1RL2	8808	broad.mit.edu	37	2	102849490	102849490	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:102849490G>A	uc002tbs.3	+	9	1329	c.1203G>A	c.(1201-1203)gtG>gtA	p.V401V	IL1RL2_uc002tbt.3_Silent_p.V283V	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	401	TIR.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GGCATGCCGTGGATGCCCTGG	0.483000														58			26		0	0	0.005443	0	0
FLNA	2316	broad.mit.edu	37	X	153577876	153577876	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:153577876G>A	uc004fkk.2	-	46	7859	c.7610C>T	c.(7609-7611)tCt>tTt	p.S2537F	FLNA_uc011mzn.1_Missense_Mutation_p.S670F|FLNA_uc010nuu.1_Missense_Mutation_p.S2529F	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	2537	Hinge 2.|Self-association site, tail.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTGGTCAGAGAGTCTACAAA	0.662000														29			27		0	0	0.007291	0	0
PTPN6	5777	broad.mit.edu	37	12	7064084	7064084	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:7064084C>T	uc001qsb.2	+	3	685	c.443C>T	c.(442-444)tCt>tTt	p.S148F	PTPN6_uc001qsa.1_Missense_Mutation_p.S150F|PTPN6_uc010sfr.1_Missense_Mutation_p.S109F|PTPN6_uc009zfl.1_Missense_Mutation_p.S148F|PTPN6_uc010sfs.1_Missense_Mutation_p.S136F	NM_002831	NP_002822	P29350	PTN6_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 6 (PTPN6), transcript variant 1, mRNA.	148	SH2 2.				G-protein coupled receptor protein signaling pathway|T cell costimulation|apoptosis|cell junction assembly|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						TTCGTGCTTTCTGTGCTCAGT	0.657000														67			24		0	0	0.004656	0	0
TRPC7	57113	broad.mit.edu	37	5	135587547	135587547	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:135587547C>T	uc003lbn.2	-	5	1591	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K	TRPC7_uc010jef.2_Missense_Mutation_p.E393K|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Missense_Mutation_p.E8K|TRPC7_uc010jeh.2_Missense_Mutation_p.E396K|TRPC7_uc010jei.2_Missense_Mutation_p.E341K	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	457					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCCAGATTTCCTTGCATTCG	0.542000														40			21		0	0	0.003330	0	0
SSX9	280660	broad.mit.edu	37	X	48159148	48159148	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:48159148C>T	uc022bvu.1	-	4	387	c.385G>A	c.(385-387)Gca>Aca	p.A129T						RecName: Full=Protein SSX9;											breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						AAGCCAGATGCTTCTGGCACT	0.453000														61			123		0	0	0.003610	0	0
MLL2	8085	broad.mit.edu	37	19	36223782	36223782	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:36223782C>T	uc021usv.1	+	27	6332	c.6332C>T	c.(6331-6333)tCg>tTg	p.S2111L	MLL2_uc021usu.1_Missense_Mutation_p.S925L	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	698	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.Q2110*(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GACCTGCCATCGGAAATTGTG	0.667000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				21			4		0	0	0.000602	0	0
RGNEF	64283	broad.mit.edu	37	5	73045798	73045798	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:73045798C>T	uc010izf.3	+	2	346	c.170C>T	c.(169-171)tCc>tTc	p.S57F	RGNEF_uc011csq.2_Missense_Mutation_p.S57F|RGNEF_uc003kcy.1_Missense_Mutation_p.S57F|RGNEF_uc021yam.1_Missense_Mutation_p.S57F	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	57					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		GTTCTCCAGTCCAGCGTCCCA	0.493000														72			35		0	0	0.006230	0	0
FAT2	2196	broad.mit.edu	37	5	150930330	150930330	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:150930330G>A	uc003lue.4	-	6	4412	c.4399C>T	c.(4399-4401)Ctc>Ttc	p.L1467F		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1467	Cadherin 13.				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)			ACTCGCAGGAGCTCTACCCCT	0.532000														31			8		0	0	0.004482	0	0
CADM2	253559	broad.mit.edu	37	3	85984956	85984956	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:85984956C>T	uc003dql.3	+	5	719	c.719C>T	c.(718-720)cCa>cTa	p.P240L	CADM2_uc003dqj.3_Missense_Mutation_p.P238L|CADM2_uc003dqk.3_Missense_Mutation_p.P247L|CADM2_uc003dqm.2_Missense_Mutation_p.P130L|CADM2_uc021xay.1_Missense_Mutation_p.P130L|CADM2_uc021xaz.1_Missense_Mutation_p.P130L|CADM2_uc021xba.1_Missense_Mutation_p.P130L	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	238	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ACTCCTTTTCCACAAGAAGGA	0.284000														96			41		0	0	0.003214	0	0
GABRR3	200959	broad.mit.edu	37	3	97731256	97731256	+	RNA	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:97731256G>A	uc021xbo.1	-	4		c.579C>T			GABRR3_uc021xbp.1_Non-coding_Transcript	NM_001105580		A8MPY1	GBRR3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 3 (GABRR3), mRNA.						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			large_intestine(2)|lung(1)	3						TTGTATCATGGATGAAGGATC	0.438000														43			15		0	0	0.003163	0	0
PIP4K2B	8396	broad.mit.edu	37	17	36927333	36927333	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:36927333G>A	uc002hqs.3	-	7	1481	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S		NM_003559	NP_003550	P78356	PI42B_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, beta (PIP4K2B), mRNA.	334	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						AAGAACCGAGGAAAGCTGAGG	0.582000														51			5		0	0	0.001168	0	0
PCSK9	255738	broad.mit.edu	37	1	55518042	55518042	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:55518042C>T	uc001cyf.2	+	3	977	c.615C>T	c.(613-615)ttC>ttT	p.F205F	PCSK9_uc010ool.2_Non-coding_Transcript|PCSK9_uc010oom.2_Non-coding_Transcript	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	205	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						TCACCGACTTCGAGAATGTGC	0.607000														271			112		0	0	0.003610	0	0
C9orf135	138255	broad.mit.edu	37	9	72520888	72520888	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:72520888G>A	uc004ahl.3	+	5	591	c.526G>A	c.(526-528)Gat>Aat	p.D176N	C9orf135_uc011lrw.2_Missense_Mutation_p.M112I|C9orf135_uc010moq.3_Missense_Mutation_p.D68N|C9orf135_uc011lrx.2_Non-coding_Transcript|C9orf135_uc010mop.3_Missense_Mutation_p.M156I	NM_001010940	NP_001010940	Q5VTT2	CI135_HUMAN	Homo sapiens chromosome 9 open reading frame 135 (C9orf135), mRNA.	176						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						CTGTCAAGATGATTATTCCAT	0.328000														18			26		0	0	0.008361	0	0
KCNB2	9312	broad.mit.edu	37	8	73479983	73479983	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:73479983C>T	uc003xzb.3	+	1	602	c.14C>T	c.(13-15)gCt>gTt	p.A5V		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	5					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GCAGAAAAGGCTCCCCCGGGC	0.507000														70			25		0	0	0.004656	0	0
GRM7	2917	broad.mit.edu	37	3	7620981	7620981	+	Silent	SNP	G	A	A	rs117160055		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:7620981G>A	uc003bqm.2	+	7	2662	c.2388G>A	c.(2386-2388)acG>acA	p.T796T	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.T796T|GRM7_uc003bql.2_Silent_p.T796T|GRM7_uc003bqn.1_Silent_p.T379T|GRM7_uc010hch.1_Silent_p.T307T	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	796					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CTATGTACACGACATGTATAG	0.403000														33			9		0	0	0.004482	0	0
ANKRD20A4	728747	broad.mit.edu	37	9	69420379	69420379	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:69420379A>T	uc004afn.3	+	12	1381	c.1269A>T	c.(1267-1269)aaA>aaT	p.K423N		NM_001098805	NP_001092275	Q4UJ75	A20A4_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A4 (ANKRD20A4), mRNA.	423										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						AGATTGGGAAAACGTATCCTC	0.348000														166			8		0	0	0.000978	0	0
GPR111	222611	broad.mit.edu	37	6	47646750	47646750	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:47646750C>T	uc010jzj.1	+	3	352	c.351C>T	c.(349-351)tcC>tcT	p.S117S	GPR111_uc003oyy.3_Silent_p.S49S	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	117					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CAGACTACTCCCAGTGTACTC	0.512000														44			29		0	0	0.006320	0	0
MYO7B	4648	broad.mit.edu	37	2	128331611	128331611	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:128331611C>T	uc002top.3	+	6	762	c.709C>T	c.(709-711)Ctg>Ttg	p.L237L		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	237	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCAATTTCTCCTGGAGAAGTC	0.602000														125			51		0	0	0.003610	0	0
SHANK2	22941	broad.mit.edu	37	11	70336483	70336483	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:70336483C>T	uc001oqc.3	-	18	2363	c.2251G>A	c.(2251-2253)Gaa>Aaa	p.E751K	SHANK2_uc010rqn.2_Missense_Mutation_p.E227K|SHANK2_uc001opz.3_Missense_Mutation_p.E222K|BC127192_uc009ysn.1_Intron|SHANK2_uc010rqp.1_Missense_Mutation_p.E219K|SHANK2_uc001opy.3_5'UTR|SHANK2_uc010rqo.1_Missense_Mutation_p.E30K	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	438					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCTTGGCGTTCGTACACAGAC	0.602000														43			25		0	0	0.007291	0	0
DHRS7C	201140	broad.mit.edu	37	17	9683345	9683345	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:9683345G>A	uc010vvb.2	-	2	291	c.278C>T	c.(277-279)aCc>aTc	p.T93I	DHRS7C_uc010cof.3_Missense_Mutation_p.T92I	NM_001220493	NP_001207422	A6NNS2	DRS7C_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA.	93						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CAGCTTTGGGGTGAATGTCTG	0.507000														12			8		0	0	0.006214	0	0
MYH6	4624	broad.mit.edu	37	14	23853878	23853878	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:23853878G>A	uc001wjv.3	-	35	5409	c.5338C>T	c.(5338-5340)Cac>Tac	p.H1780Y		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1780					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGCTCCAGGTGGGCGCTGGTG	0.622000														74			23		0	0	0.005443	0	0
ZNF676	163223	broad.mit.edu	37	19	22363955	22363955	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:22363955C>T	uc002nqs.1	-	2	882	c.564G>A	c.(562-564)aaG>aaA	p.K188K		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	188				TLTYYKSI -> NLMEHKRV (in Ref. 2; BAC05174).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TATGAATACTCTTATAATAAG	0.343000														41			23		0	0	0.002780	0	0
TPO	7173	broad.mit.edu	37	2	1460037	1460037	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:1460037C>T	uc002qwr.3	+	6	888	c.802C>T	c.(802-804)Cca>Tca	p.P268S	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.P268S|TPO_uc002qwx.3_Missense_Mutation_p.P268S|TPO_uc002qwu.3_Missense_Mutation_p.P268S|TPO_uc010yio.2_Missense_Mutation_p.P268S|TPO_uc010yip.2_Missense_Mutation_p.P268S	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	268					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.P268A(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GAACCAAAACCCATGTTTTCC	0.418000														32			19		0	0	0.008871	0	0
TSPY2	64591	broad.mit.edu	37	Y	6115650	6115650	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrY:6115650C>T	uc004fqr.1	+	2	658	c.612C>T	c.(610-612)ttC>ttT	p.F204F	TSPY2_uc004fqs.1_Silent_p.F204F	NM_022573	NP_072095	A6NKD2	TSPY2_HUMAN	Homo sapiens testis specific protein, Y-linked 2 (TSPY2), mRNA.	204					cell differentiation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus				liver(1)|lung(4)|prostate(1)|skin(1)	7						TCATGTTGTTCTTTCGGAGTA	0.473000														73			27		0	0	0.002836	0	0
CORO6	84940	broad.mit.edu	37	17	27943746	27943746	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:27943746C>T	uc002hel.2	-	6	980	c.978G>A	c.(976-978)ctG>ctA	p.L326L	CORO6_uc002hem.3_Silent_p.L92L|CORO6_uc002hen.3_Silent_p.L92L	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	Homo sapiens coronin 6 (CORO6), mRNA.	326					actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						TGCTGACATCCAGTCCCCTTT	0.607000														82			16		0	0	0.003163	0	0
PCK1	5105	broad.mit.edu	37	20	56140833	56140833	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:56140833C>T	uc002xyn.4	+	9	2005	c.1842C>T	c.(1840-1842)gcC>gcT	p.A614A	PCK1_uc010zzm.2_Silent_p.A297A	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	614					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AGATCCTTGCCTTGAAGCAAA	0.478000														39			12		0	0	0.001368	0	0
DNAH7	56171	broad.mit.edu	37	2	196664178	196664178	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:196664178C>T	uc002utj.4	-	54	10296	c.10195G>A	c.(10195-10197)Gaa>Aaa	p.E3399K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3399	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATTATAAATTCCTGCAACATT	0.363000														78			42		0	0	0.003610	0	0
GK2	2712	broad.mit.edu	37	4	80328892	80328892	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:80328892G>A	uc003hlu.3	-	0	481	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	155					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AGCATCCAACGAAGTTTTACT	0.408000														74			32		0	0	0.002096	0	0
SQLE	6713	broad.mit.edu	37	8	126017848	126017848	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:126017848C>T	uc011liq.2	+	2	1552	c.626C>T	c.(625-627)cCt>cTt	p.P209L		NM_003129	NP_003120	Q14534	ERG1_HUMAN	Homo sapiens squalene epoxidase (SQLE), mRNA.	209					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	GTTCAGATTCCTTACCCTCTG	0.453000														76			40		0	0	0.007835	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480684	140480684	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140480684G>A	uc003lio.3	+	0	451	c.451G>A	c.(451-453)Gta>Ata	p.V151I	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	151	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCAGGAACAGTAATTCCTTT	0.433000														80			26		0	0	0.003330	0	0
HMCN1	83872	broad.mit.edu	37	1	186086187	186086187	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:186086187G>A	uc001grq.1	+	75	11852	c.11623G>A	c.(11623-11625)Gaa>Aaa	p.E3875K	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3875	Ig-like C2-type 37.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGCAACCTATGAATGTACTGT	0.403000														43			34		0	0	0.002836	0	0
PKP2	5318	broad.mit.edu	37	12	32945370	32945370	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:32945370G>A	uc001rlj.4	-	13	2749	c.2634C>T	c.(2632-2634)tcC>tcT	p.S878S	PKP2_uc001rlk.4_Silent_p.S834S|PKP2_uc010skj.2_Silent_p.S831S	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	878					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AGTCTTTAAGGGAGTGGTAGG	0.423000														40			14		0	0	0.004007	0	0
KCTD14	65987	broad.mit.edu	37	11	77728170	77728170	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:77728170G>A	uc001oyw.4	-	1	262	c.237C>T	c.(235-237)atC>atT	p.I79I	NDUFC2-KCTD14_uc021qnr.1_3'UTR|NDUFC2-KCTD14_uc021qns.1_3'UTR|NDUFC2-KCTD14_uc021qnt.1_3'UTR	NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 14 (KCTD14), mRNA.	79	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			TGGGGCGGTCGATGAAGAAGC	0.597000														37			10		0	0	0.008291	0	0
abParts	0	broad.mit.edu	37	14	106780804	106780804	+	RNA	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:106780804C>T	uc021ser.1	-	655		c.17890G>A								Parts of antibodies, mostly variable regions.																		GCAGCTGCACCTGGGACAGGA	0.587000														47			19		0	0	0.003330	0	0
TEX15	56154	broad.mit.edu	37	8	30701385	30701385	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:30701385G>A	uc003xil.3	-	0	5149	c.5149C>T	c.(5149-5151)Cga>Tga	p.R1717*		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1717								p.R1717*(2)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGCAAGCTTCGCAATGTTGGT	0.388000														47			25		0	0	0.003330	0	0
PPP3CB	5532	broad.mit.edu	37	10	75238270	75238270	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:75238270T>A	uc001juf.3	-	2	533	c.398A>T	c.(397-399)tAt>tTt	p.Y133F	PPP3CB_uc001jue.3_Missense_Mutation_p.Y133F|PPP3CB_uc001jug.3_Missense_Mutation_p.Y133F|PPP3CB_uc001juh.2_Missense_Mutation_p.Y47F|PPP3CB_uc001jui.2_Missense_Mutation_p.Y133F	NM_001142353	NP_001135825	P16298	PP2BB_HUMAN	Homo sapiens protein phosphatase 3, catalytic subunit, beta isozyme (PPP3CB), transcript variant 1, mRNA.	133	Catalytic.									breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					TATACTAAAATAACCTCTGTC	0.348000														43			22		0	0	0.002299	0	0
FAT4	79633	broad.mit.edu	37	4	126239997	126239997	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:126239997C>T	uc003ifj.4	+	0	2431	c.2431C>T	c.(2431-2433)Cat>Tat	p.H811Y		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	811	Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCTGGGATATCATGTGGGTAG	0.443000														76			15		0	0	0.006122	0	0
UNC45B	146862	broad.mit.edu	37	17	33496856	33496856	+	Splice_Site	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:33496856G>A	uc002hja.3	+	11	1550	c.1453_splice	c.e11-1	p.G485_splice	UNC45B_uc002hjb.3_Splice_Site_p.G485_splice|UNC45B_uc002hjc.3_Splice_Site_p.G485_splice|UNC45B_uc010cto.3_Intron	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	485					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TCCTCCTCAGGGACTCTGTAA	0.542000														32			17		0	0	0.004990	0	0
ZNF687	57592	broad.mit.edu	37	1	151259302	151259302	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:151259302C>T	uc001exq.3	+	1	633	c.535C>T	c.(535-537)Ccc>Tcc	p.P179S	ZNF687_uc001exp.1_Missense_Mutation_p.P188S|ZNF687_uc009wmo.3_Missense_Mutation_p.P179S|ZNF687_uc009wmp.3_Missense_Mutation_p.P179S	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	Homo sapiens zinc finger protein 687 (ZNF687), mRNA.	179	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	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)			TCCGCTGCCTCCCTCTGCACC	0.617000														48			10		0	0	0.006214	0	0
FRAS1	80144	broad.mit.edu	37	4	79258883	79258883	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:79258883C>T	uc003hlb.2	+	19	2774	c.2334C>T	c.(2332-2334)tcC>tcT	p.S778S	FRAS1_uc003hkw.3_Silent_p.S778S|FRAS1_uc003hkz.3_Silent_p.S482S	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	778					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACTGCATCTCCTGTTACCCTC	0.537000														133			36		0	0	0.004289	0	0
FLG2	388698	broad.mit.edu	37	1	152329028	152329028	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:152329028C>T	uc001ezw.4	-	2	1307	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	412	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGGAAAATTCATTTGAACTA	0.428000														47			34		0	0	0.002836	0	0
GABRG2	2566	broad.mit.edu	37	5	161524745	161524745	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:161524745G>A	uc010jjc.3	+	3	787	c.429G>A	c.(427-429)ggG>ggA	p.G143G	GABRG2_uc003lyy.4_Silent_p.G143G|GABRG2_uc003lyz.4_Silent_p.G143G|GABRG2_uc011dej.2_Silent_p.G48G	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	143					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ACATGGTGGGGAAAATCTGGA	0.408000														53			28		0	0	0.006320	0	0
C17orf70	80233	broad.mit.edu	37	17	79517625	79517625	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:79517625C>T	uc002kaq.3	-	2	968	c.895G>A	c.(895-897)Gag>Aag	p.E299K	C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Missense_Mutation_p.E148K	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.	299					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			AGAAAATTCTCTGCAGCTTCT	0.582000														56			14		0	0	0.004007	0	0
NRXN2	9379	broad.mit.edu	37	11	64421181	64421181	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:64421181G>A	uc021qkw.1	-	11	2865	c.2403C>T	c.(2401-2403)gtC>gtT	p.V801V	NRXN2_uc021qkx.1_Intron|NRXN2_uc001oas.3_Intron|NRXN2_uc001oaq.3_Silent_p.V468V	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	801	Laminin G-like 4.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GTGCGCAGCCGACGCGCAGGC	0.572000														16			4		0	0	0.001984	0	0
TNXB	7148	broad.mit.edu	37	6	31977598	31977598	+	RNA	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:31977598C>T	uc021yvf.1	-	8		c.2214G>A						P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB-S, mRNA.						actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCACCGGCTCCGTTCTGCAT	0.657000														189			33		0	0	0.007835	0	0
OR51G2	81282	broad.mit.edu	37	11	4936874	4936874	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:4936874C>T	uc001lzr.1	-	0	20	c.20G>A	c.(19-21)gGa>gAa	p.G7E		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTGCTGTTTCCCAGGGATCC	0.547000														40			21		0	0	0.008871	0	0
CUBN	8029	broad.mit.edu	37	10	17156031	17156031	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:17156031G>A	uc001ioo.3	-	7	930	c.878C>T	c.(877-879)cCa>cTa	p.P293L		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	293	EGF-like 3; calcium-binding (Potential).				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTACCTGTTGGACAGGCCCC	0.527000														8			5		0	0	0.001984	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100222291	100222291	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:100222291G>A	uc003knk.3	-	2	587	c.259C>T	c.(259-261)Cgt>Tgt	p.R87C	ST8SIA4_uc003knl.3_Missense_Mutation_p.R87C	NM_005668	NP_005659	Q92187	SIA8D_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA.	87					N-glycan processing|axon guidance	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TCTAAGAAACGAAGTATGTTC	0.388000														36			26		0	0	0.003330	0	0
ZNF135	7694	broad.mit.edu	37	19	58579610	58579610	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:58579610C>T	uc002qrg.3	+	3	1833	c.1830C>T	c.(1828-1830)tcC>tcT	p.S610S	ZNF135_uc002qre.3_Silent_p.S586S|ZNF135_uc002qrf.3_Silent_p.S544S|ZNF135_uc010yhq.2_Silent_p.S598S|ZNF135_uc010yhr.2_Silent_p.S407S|ZNF135_uc002qrd.2_Intron|ZNF135_uc021vcu.1_3'UTR	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	598					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GTGGGAAATCCTTCAGCCACA	0.552000														70			20		0	0	0.010504	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140744132	140744132	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140744132C>T	uc003lju.2	+	0	235	c.235C>T	c.(235-237)Ccg>Tcg	p.P79S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Missense_Mutation_p.P79S	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	79	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCCTGAACCCGCGAAGCGG	0.617000														67			20		0	0	0.001882	0	0
AL117485	0	broad.mit.edu	37	22	18844999	18844999	+	RNA	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:18844999C>T	uc002zoe.3	+	3		c.2253C>T			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		CTTGAAGATCCTGAGTGAGTC	0.577000														30			4		0	0	0.009096	0	0
NOS1	4842	broad.mit.edu	37	12	117703283	117703283	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:117703283G>A	uc001twn.2	-	11	2685	c.1974C>T	c.(1972-1974)tcC>tcT	p.S658S	NOS1_uc021ren.1_Silent_p.S322S|NOS1_uc021reo.1_Silent_p.S322S|NOS1_uc001twm.2_Silent_p.S658S	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	658					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ACTCGGTGGCGGAGTGATGGT	0.602000														4			7		0	0	0.001984	0	0
CADPS	8618	broad.mit.edu	37	3	62739277	62739277	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:62739277C>T	uc003dll.2	-	2	1087	c.727G>A	c.(727-729)Gcc>Acc	p.A243T	CADPS_uc003dlm.2_Missense_Mutation_p.A243T|CADPS_uc003dln.2_Missense_Mutation_p.A243T|CADPS_uc021wzv.1_Missense_Mutation_p.A243T	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	243					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CGGTAGATGGCATCAAATTTG	0.567000														54			28		0	0	0.005443	0	0
SIM2	6493	broad.mit.edu	37	21	38095401	38095401	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:38095401G>A	uc002yvr.2	+	4	569	c.513G>A	c.(511-513)agG>agA	p.R171R	SIM2_uc002yvq.3_Silent_p.R171R	NM_005069	NP_005060	Q14190	SIM2_HUMAN	Homo sapiens single-minded homolog 2 (Drosophila) (SIM2), transcript variant SIM2, mRNA.	171					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TGGCGAAAAGGAACGCGGGCC	0.542000														90			38		0	0	0.007835	0	0
AV8S2	0	broad.mit.edu	37	14	22386445	22386445	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:22386445C>T	uc001wch.2	+	0	94	c.16C>T	c.(16-18)Cga>Tga	p.R6*	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|AV8S2_uc010aiy.2_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 13, partial cds, clone: SEB 7.																		GGCAGGCATTCGAGCTTTATT	0.418000														104			40		0	0	0.003610	0	0
SLC35G2	80723	broad.mit.edu	37	3	136573917	136573917	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:136573917C>T	uc003erf.4	+	1	829	c.615C>T	c.(613-615)ttC>ttT	p.F205F	SLC35G2_uc003erg.4_Silent_p.F205F|SLC35G2_uc010hub.3_Silent_p.F205F|SLC35G2_uc021xem.1_Silent_p.F205F	NM_001097600	NP_079522	Q8TBE7	TMM22_HUMAN	Homo sapiens transmembrane protein 22 (TMEM22), transcript variant 3, mRNA.	205	DUF6 1.					Golgi apparatus|integral to membrane											CTACAGTCTTCAGTGCCATTT	0.408000														60			23		0	0	0.002299	0	0
TH	7054	broad.mit.edu	37	11	2189797	2189797	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:2189797G>A	uc001lvq.3	-	3	523	c.504C>T	c.(502-504)cgC>cgT	p.R168R	TH_uc001lvp.3_Silent_p.R164R|TH_uc001lvr.3_Silent_p.R137R|TH_uc010qxj.2_Silent_p.R141R|TH_uc001lvs.3_Silent_p.R137R|TH_uc001lvt.3_Silent_p.R141R|TH_uc009ydh.1_5'Flank	NM_199292	NP_954986	P07101	TY3H_HUMAN	Homo sapiens tyrosine hydroxylase (TH), transcript variant 1, mRNA.	168					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GGTCCCCTCGGCGCACCTCGA	0.682000														23			8		0	0	0.003080	0	0
PLCB4	5332	broad.mit.edu	37	20	9404516	9404516	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:9404516G>A	uc021wam.1	+	23	2420	c.2405G>A	c.(2404-2406)cGa>cAa	p.R802Q	PLCB4_uc010gbw.1_Missense_Mutation_p.R802Q|PLCB4_uc010gbx.3_Missense_Mutation_p.R814Q|PLCB4_uc021wal.1_Missense_Mutation_p.R802Q|PLCB4_uc002wnh.3_Missense_Mutation_p.R649Q	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	802					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATTTCCCTTCGAAATGAGGGA	0.408000														20			11		0	0	0.001368	0	0
ARMC4	55130	broad.mit.edu	37	10	28270487	28270487	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:28270487C>G	uc009xky.3	-	6	942	c.844G>C	c.(844-846)Gtt>Ctt	p.V282L	ARMC4_uc010qds.2_5'UTR|ARMC4_uc010qdt.2_5'UTR|ARMC4_uc001itz.3_Missense_Mutation_p.V282L|ARMC4_uc010qdu.1_5'UTR	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	282							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCATAATTAACGTCCCCTTCA	0.294000														110			35		0	0	0.008740	0	0
BPIFB6	128859	broad.mit.edu	37	20	31624250	31624250	+	Splice_Site	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:31624250G>A	uc010zuc.2	+	7	578	c.578_splice	c.e7-1	p.D193_splice	BPIFB6_uc010zud.2_Splice_Site_p.D132_splice	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA.	193						extracellular region	lipid binding										TTTTCACACAGACCCCATGCC	0.587000														114			37		0	0	0.008740	0	0
PPP2R2B	5521	broad.mit.edu	37	5	146077636	146077636	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:146077636G>A	uc011dbv.2	-	4	677	c.414C>T	c.(412-414)ttC>ttT	p.F138F	PPP2R2B_uc010jgm.3_Silent_p.F69F|PPP2R2B_uc003loe.3_Silent_p.F80F|PPP2R2B_uc003log.4_Silent_p.F80F|PPP2R2B_uc003lof.4_Silent_p.F80F|PPP2R2B_uc003loi.4_Silent_p.F83F|PPP2R2B_uc003loh.4_Silent_p.F80F|PPP2R2B_uc003lok.4_Silent_p.F69F|PPP2R2B_uc003loj.4_Silent_p.F60F|PPP2R2B_uc011dbu.2_Silent_p.F86F	NM_181675	NP_858061	Q00005	2ABB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, beta (PPP2R2B), transcript variant 3, mRNA.	80					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.F69F(1)|p.F80F(1)|p.F83F(1)|p.F138F(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAGGTAATCGAACTCGGGTT	0.383000														107			55		0	0	0.003610	0	0
PLCH1	23007	broad.mit.edu	37	3	155222400	155222400	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:155222400C>T	uc021xge.1	-	11	1889	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	PLCH1_uc021xgd.1_Missense_Mutation_p.E538K|PLCH1_uc021xgf.1_Missense_Mutation_p.E520K	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	538					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)			TTTCCACTTTCCTTTACATCT	0.343000														45			20		0	0	0.002299	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136827	40136827	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:40136827C>T	uc021qgf.1	-	0	1016	c.1016G>A	c.(1015-1017)aGg>aAg	p.R339K	LRRC4C_uc001mxc.1_Missense_Mutation_p.R335K|LRRC4C_uc001mxd.1_Missense_Mutation_p.R335K|LRRC4C_uc001mxa.1_Missense_Mutation_p.R339K|LRRC4C_uc001mxb.1_Missense_Mutation_p.R335K	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	339	LRRCT.				regulation of axonogenesis	integral to membrane	protein binding	p.G338G(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCCAATGTACCTCCCCTTTAG	0.527000														37			16		0	0	0.003163	0	0
GUCY2F	2986	broad.mit.edu	37	X	108718988	108718988	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:108718988G>A	uc022cch.1	-	0	263	c.178C>T	c.(178-180)Cct>Tct	p.P60S	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.P60S	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	60					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CAAGCCCAAGGGCCCACCACC	0.552000											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		18			25		0	0	0.003330	0	0
DNAH9	1770	broad.mit.edu	37	17	11593480	11593480	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:11593480G>A	uc002gne.3	+	19	4409	c.4341G>A	c.(4339-4341)atG>atA	p.M1447I	DNAH9_uc010coo.3_Missense_Mutation_p.M741I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1447	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGGCTGGCATGGAATTCCAGT	0.512000														40			8		0	0	0.006214	0	0
COL21A1	81578	broad.mit.edu	37	6	56035891	56035891	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:56035891G>A	uc003pcs.3	-	3	908	c.676C>T	c.(676-678)Cgt>Tgt	p.R226C	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.R226C|COL21A1_uc003pcu.1_Missense_Mutation_p.R226C	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	226					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTTCATCACGAGCTGCCACT	0.308000														55			21		0	0	0.006320	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918534	51918534	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:51918534C>T	uc002pwo.3	-	6	1453	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K	SIGLEC10_uc002pwp.3_Missense_Mutation_p.E353K|SIGLEC10_uc021uyl.1_Missense_Mutation_p.E328K|SIGLEC10_uc002pwq.3_Missense_Mutation_p.E353K|SIGLEC10_uc010ycz.2_Missense_Mutation_p.E363K|SIGLEC10_uc002pws.2_Missense_Mutation_p.E263K|SIGLEC10_uc002pwr.3_Missense_Mutation_p.E411K|SIGLEC10_uc010ycy.2_Missense_Mutation_p.E321K|SIGLEC10_uc010eow.3_Missense_Mutation_p.E223K|LOC100129083_uc021uym.1_5'Flank	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	411	Ig-like C2-type 3.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CGAGGCAGCTCCAGGACCCCG	0.667000														39			16		0	0	0.004007	0	0
ABAT	18	broad.mit.edu	37	16	8862722	8862722	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:8862722C>T	uc002czc.4	+	10	874	c.708C>T	c.(706-708)atC>atT	p.I236I	ABAT_uc002czd.4_Silent_p.I236I|ABAT_uc010buh.3_Silent_p.I178I|ABAT_uc010bui.3_Silent_p.I236I	NM_020686	NP_065737	P80404	GABT_HUMAN	Homo sapiens 4-aminobutyrate aminotransferase (ABAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	236					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	TTCACAAGATCGACATCCCTT	0.532000														94			76		0	0	0.003610	0	0
PRUNE2	158471	broad.mit.edu	37	9	79318512	79318512	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:79318512G>A	uc010mpk.3	-	8	8141	c.8017C>T	c.(8017-8019)Cag>Tag	p.Q2673*	PRUNE2_uc004akj.4_Nonsense_Mutation_p.Q126*|PRUNE2_uc022big.1_Non-coding_Transcript|PRUNE2_uc010mpl.1_Nonsense_Mutation_p.Q126*|PRUNE2_uc022bih.1_Nonsense_Mutation_p.Q2495*	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2673					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATCTGCAGCTGGGGACCCTCA	0.557000														17			12		0	0	0.001368	0	0
CYP4F2	8529	broad.mit.edu	37	19	15989715	15989715	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:15989715C>T	uc002nbs.1	-	12	1479	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	CYP4F2_uc010xot.1_Missense_Mutation_p.E328K	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	477					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.A476V(1)|p.A476A(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACCTTCATCTCCGCCATCGCG	0.677000														43			5		0	0	0.000602	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64483905	64483905	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:64483905C>T	uc003jtp.3	-	21	3662	c.2848G>A	c.(2848-2850)Gaa>Aaa	p.E950K	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	950	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GGCTCTTTTTCGACAGGCCGG	0.507000														98			54		0	0	0.003610	0	0
COBLL1	22837	broad.mit.edu	37	2	165551668	165551668	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:165551668G>A	uc002ucp.3	-	11	2570	c.2348C>T	c.(2347-2349)tCg>tTg	p.S783L	COBLL1_uc002ucq.3_Missense_Mutation_p.S745L|COBLL1_uc010zcw.2_Missense_Mutation_p.S850L|COBLL1_uc010zcx.2_Missense_Mutation_p.S791L|COBLL1_uc002ucn.3_Missense_Mutation_p.S211L|COBLL1_uc002uco.3_Missense_Mutation_p.S514L	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	821										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CCAGTCTTTCGATATTTCCAA	0.378000														94			45		0	0	0.003214	0	0
RYR1	6261	broad.mit.edu	37	19	39008051	39008051	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:39008051G>A	uc002oit.3	+	65	9868	c.9738G>A	c.(9736-9738)ctG>ctA	p.L3246L	RYR1_uc002oiu.3_Silent_p.L3246L|RYR1_uc002oiv.1_Silent_p.L166L|RYR1_uc010xuf.1_Silent_p.L166L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3246					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCCCGGTGCTGGAGCGGCTCA	0.632000														49			15		0	0	0.006122	0	0
MEIS2	4212	broad.mit.edu	37	15	37387790	37387790	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:37387790G>A	uc001zjr.3	-	3	1487	c.413C>T	c.(412-414)tCc>tTc	p.S138F	MEIS2_uc001zjl.3_Missense_Mutation_p.S125F|MEIS2_uc010ucj.2_Missense_Mutation_p.S125F|MEIS2_uc001zjm.3_Missense_Mutation_p.S50F|MEIS2_uc001zjn.3_5'UTR|MEIS2_uc001zjo.3_Missense_Mutation_p.S138F|MEIS2_uc001zjp.3_Missense_Mutation_p.S138F|MEIS2_uc001zjs.3_Missense_Mutation_p.S138F|MEIS2_uc001zju.3_Missense_Mutation_p.S125F|MEIS2_uc001zjt.3_Missense_Mutation_p.S138F	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Homo sapiens Meis homeobox 2 (MEIS2), transcript variant c, mRNA.	138					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TGGATTTGAGGAAAAAAGTGG	0.468000														33			10		0	0	0.000978	0	0
BMPR1A	657	broad.mit.edu	37	10	88683459	88683459	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:88683459C>T	uc001kdy.3	+	12	2130	c.1582C>T	c.(1582-1584)Caa>Taa	p.Q528*		NM_004329	NP_004320	P36894	BMR1A_HUMAN	Homo sapiens bone morphogenetic protein receptor, type IA (BMPR1A), mRNA.	528					BMP signaling pathway|immune response|positive regulation of SMAD protein import into nucleus|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|SMAD binding|metal ion binding|protein homodimerization activity|transforming growth factor beta receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						GGTTGAATCCCAAGATGTAAA	0.438000			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2					21			15		0	0	0.004990	0	0
OR4A16	81327	broad.mit.edu	37	11	55110964	55110964	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:55110964G>A	uc010rie.2	+	0	288	c.288G>A	c.(286-288)atG>atA	p.M96I		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C95F(1)		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						CAGCTTGCATGGGTCAGCTCT	0.448000														135			40		0	0	0.008740	0	0
CDK17	5128	broad.mit.edu	37	12	96728504	96728504	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:96728504C>T	uc001tep.2	-	1	743	c.111G>A	c.(109-111)aaG>aaA	p.K37K	CDK17_uc009ztk.3_Silent_p.K37K|CDK17_uc010svb.2_Intron	NM_002595	NP_002586	Q00537	CDK17_HUMAN	Homo sapiens cyclin-dependent kinase 17 (CDK17), transcript variant 1, mRNA.	37							ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						TACCATTATCCTTGCTGCTGT	0.343000														40			37		0	0	0.007835	0	0
POLR1A	25885	broad.mit.edu	37	2	86327194	86327194	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:86327194G>A	uc002sqs.3	-	1	558	c.179C>T	c.(178-180)tCc>tTc	p.S60F		NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	60					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CACCTCTTTGGAATCTGCAGG	0.527000														45			17		0	0	0.004990	0	0
MIA2	117153	broad.mit.edu	37	14	39716748	39716748	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:39716748G>A	uc001wux.3	+	3	1164	c.970G>A	c.(970-972)Gat>Aat	p.D324N	MIA2_uc010amy.2_Missense_Mutation_p.D255N	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	324						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TGGAGATGAGGATACAGGGCT	0.408000														47			15		0	0	0.004990	0	0
KIAA0368	23392	broad.mit.edu	37	9	114151901	114151901	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:114151901G>A	uc004bfe.1	-	31	3916	c.3916C>T	c.(3916-3918)Ccc>Tcc	p.P1306S		NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CCAAGGTTGGGATCAAACTGG	0.463000														20			18		0	0	0.006122	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49327569	49327569	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:49327569G>A	uc001zxe.2	-	2	754	c.490C>T	c.(490-492)Cga>Tga	p.R164*	SECISBP2L_uc001zxd.2_Nonsense_Mutation_p.R164*|SECISBP2L_uc010bep.2_5'UTR|SECISBP2L_uc010beq.2_Nonsense_Mutation_p.R164*	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN	Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.	164								p.R164Q(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TTTCTGCTTCGATGGCTGGAC	0.413000														53			12		0	0	0.002450	0	0
FMO3	2328	broad.mit.edu	37	1	171079953	171079953	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:171079953C>T	uc001ghi.3	+	5	753	c.642C>T	c.(640-642)tcC>tcT	p.S214S	FMO3_uc001ghh.3_Silent_p.S214S|FMO3_uc010pmb.2_Silent_p.S194S|FMO3_uc010pmc.2_Silent_p.S151S	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	214					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGATCAGTTCCAGAAGTGGCT	0.463000														111			19		0	0	0.002780	0	0
CATSPERG	57828	broad.mit.edu	37	19	38858759	38858759	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:38858759A>T	uc002oih.4	+	25	3089	c.3002A>T	c.(3001-3003)cAc>cTc	p.H1001L	CATSPERG_uc002oig.4_Missense_Mutation_p.H961L|CATSPERG_uc002oif.4_Missense_Mutation_p.H641L|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	1001					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						ATCATGTCCCACGAGAGCCCA	0.602000														76			25		0	0	0.005443	0	0
KLHL14	57565	broad.mit.edu	37	18	30350077	30350077	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:30350077C>T	uc002kxm.1	-	1	866	c.478G>A	c.(478-480)Gtc>Atc	p.V160I		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	160						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						ATCTTGCTGACCGACAGCACC	0.617000														73			16		0	0	0.003163	0	0
OR6X1	390260	broad.mit.edu	37	11	123624553	123624553	+	Missense_Mutation	SNP	C	T	T	rs140203672	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:123624553C>T	uc010rzy.2	-	0	674	c.674G>A	c.(673-675)cGa>cAa	p.R225Q		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGAAGGAATTCGTAGGATTGC	0.473000														53			10		0	0	0.008291	0	0
SRRM4	84530	broad.mit.edu	37	12	119552115	119552115	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:119552115C>T	uc001txa.2	+	2	699	c.311C>T	c.(310-312)cCt>cTt	p.P104L		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	104					RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						ACACCACCACCTTCCTCCAGG	0.498000														15			6		0	0	0.001168	0	0
SLC35F1	222553	broad.mit.edu	37	6	118588184	118588184	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:118588184C>T	uc003pxx.4	+	3	705	c.504C>T	c.(502-504)gtC>gtT	p.V168V		NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	Homo sapiens solute carrier family 35, member F1 (SLC35F1), mRNA.	168					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TGATCCCAGTCGTGATTTTGC	0.493000														215			93		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179592435	179592435	+	Silent	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179592435A>G	uc021vsy.1	-	64	16363	c.16138T>C	c.(16138-16140)Ttg>Ctg	p.L5380L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.L2041L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6307	Ig-like 34.						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)			GACCCTTCCAAGCCAATGAAA	0.393000														226			85		0	0	0.003610	0	0
LRFN2	57497	broad.mit.edu	37	6	40400441	40400441	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:40400441C>T	uc003oph.1	-	1	877	c.412G>A	c.(412-414)Ggc>Agc	p.G138S		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	138						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)					TCTGCGATGCCGCCCAGCTGG	0.597000														38			11		0	0	0.001368	0	0
WDR33	55339	broad.mit.edu	37	2	128476849	128476849	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:128476849G>A	uc002tpg.2	-	15	2949	c.2750C>T	c.(2749-2751)cCc>cTc	p.P917L		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	917					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTGGTTGAAGGGGGCCCGGGG	0.512000														119			57		0	0	0.003610	0	0
MMP1	4312	broad.mit.edu	37	11	102667484	102667484	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:102667484C>T	uc001phi.2	-	3	679	c.536G>A	c.(535-537)gGa>gAa	p.G179E	LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.G113E	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	179	Metalloprotease.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		AGCAAGATTTCCTCCAGGTCC	0.438000														23			13		0	0	0.002450	0	0
SMARCC2	6601	broad.mit.edu	37	12	56559111	56559111	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:56559111C>T	uc001skb.3	-	25	3236	c.3130G>A	c.(3130-3132)Gga>Aga	p.G1044R	SMARCC2_uc001skd.3_Missense_Mutation_p.G1075R|SMARCC2_uc001ska.3_Missense_Mutation_p.G1075R|SMARCC2_uc001skc.3_Missense_Mutation_p.G1074R|SMARCC2_uc010sqf.2_Missense_Mutation_p.G964R	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.	1044	Pro-rich.				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)			CCATGGGGTCCAGGGGGGGGA	0.577000														70			40		0	0	0.003610	0	0
PTPRK	5796	broad.mit.edu	37	6	128643228	128643228	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:128643228G>A	uc003qbk.3	-	2	818	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	PTPRK_uc010kfc.3_Missense_Mutation_p.R151W|PTPRK_uc003qbj.3_Missense_Mutation_p.R151W|PTPRK_uc011ebu.2_Missense_Mutation_p.R151W|PTPRK_uc003qbl.1_Intron|PTPRK_uc011ebv.1_Missense_Mutation_p.R151W|PTPRK_uc003qbm.4_Missense_Mutation_p.R80W	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	151	MAM.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AGCTCAGCCCGAAGCCAATCT	0.423000														54			19		0	0	0.006122	0	0
INTU	27152	broad.mit.edu	37	4	128632131	128632131	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:128632131C>T	uc003ifk.2	+	13	2536	c.2433C>T	c.(2431-2433)atC>atT	p.I811I	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	811										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TGCAAGGAATCTTTATTACTC	0.398000														47			17		0	0	0.001882	0	0
NR4A2	4929	broad.mit.edu	37	2	157186171	157186171	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:157186171G>A	uc002tyz.4	-	2	950	c.528C>T	c.(526-528)ttC>ttT	p.F176F	NR4A2_uc021vri.1_Silent_p.F176F|NR4A2_uc002tyx.4_Silent_p.F113F|NR4A2_uc010zcf.2_Silent_p.F176F|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 2 (NR4A2), mRNA.	176	Pro-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GCTTAAAGGAGAAGAGGGAGA	0.637000														154			55		0	0	0.003610	0	0
HEPH	9843	broad.mit.edu	37	X	65476031	65476031	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:65476031C>T	uc011moz.2	+	16	3054	c.2917C>T	c.(2917-2919)Cgg>Tgg	p.R973W	HEPH_uc004dwn.3_Missense_Mutation_p.R922W|HEPH_uc004dwo.3_Missense_Mutation_p.R652W|HEPH_uc010nkr.3_Missense_Mutation_p.R730W|HEPH_uc011mpa.2_Missense_Mutation_p.R922W|HEPH_uc010nks.3_Missense_Mutation_p.R211W	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	919	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TGACATGGATCGGGAATTTGC	0.493000														20			26		0	0	0.005443	0	0
MAP6	4135	broad.mit.edu	37	11	75319327	75319327	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:75319327G>A	uc001owu.3	-	1	1011	c.946C>T	c.(946-948)Cca>Tca	p.P316S	MAP6_uc001owv.3_Missense_Mutation_p.P316S	NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	Homo sapiens microtubule-associated protein 6 (MAP6), transcript variant 1, mRNA.	316	Calmodulin-binding (By similarity).|Mn 3.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GCCTTTATTGGTTTCACAGGC	0.483000														44			30		0	0	0.003755	0	0
MYCN	4613	broad.mit.edu	37	2	16086111	16086111	+	Nonsense_Mutation	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:16086111T>A	uc002rci.3	+	2	1587	c.1287T>A	c.(1285-1287)taT>taA	p.Y429*	MYCN_uc010yjr.2_Nonsense_Mutation_p.Y429*	NM_005378	NP_005369	P04198	MYCN_HUMAN	Homo sapiens v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) (MYCN), mRNA.	429	Helix-loop-helix motif.				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CCACTGAGTATGTCCACTCCC	0.517000			A		neuroblastoma									136			77		0	0	0.003610	0	0
DSG2	1829	broad.mit.edu	37	18	29111134	29111134	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:29111134G>A	uc002kwu.4	+	8	1387	c.1199G>A	c.(1198-1200)aGc>aAc	p.S400N		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	400	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GTTAGCGAGAGCATGGATAGA	0.403000														59			16		0	0	0.006122	0	0
DLGAP1	9229	broad.mit.edu	37	18	3742415	3742415	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:3742415C>T	uc002kmf.3	-	5	1797	c.1270G>A	c.(1270-1272)Gac>Aac	p.D424N	DLGAP1_uc010wyz.2_Missense_Mutation_p.D424N|DLGAP1_uc010dkn.3_Missense_Mutation_p.D122N|DLGAP1_uc002kme.2_Missense_Mutation_p.D122N|DLGAP1_uc010wyw.2_Missense_Mutation_p.D130N|DLGAP1_uc010wyx.2_Missense_Mutation_p.D136N|DLGAP1_uc010wyy.2_Missense_Mutation_p.D136N|DLGAP1_uc002kmg.3_Missense_Mutation_p.D122N|DLGAP1_uc002kmk.2_Missense_Mutation_p.D424N	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	424					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CCTGCAGGGTCCAGGCTGTCC	0.567000														25			6		0	0	0.001168	0	0
MAP3K5	4217	broad.mit.edu	37	6	136944029	136944029	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:136944029G>A	uc003qhc.3	-	14	2468	c.2107C>T	c.(2107-2109)Caa>Taa	p.Q703*	MAP3K5_uc011edj.2_Intron|MAP3K5_uc011edk.1_Nonsense_Mutation_p.Q548*	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	703	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ATTCTGACTTGGTTGCTCAAG	0.408000														138			64		0	0	0.003610	0	0
GBA3	57733	broad.mit.edu	37	4	22749309	22749309	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:22749309C>T	uc003gqp.4	+	2	768	c.677C>T	c.(676-678)gCg>gTg	p.A226V	GBA3_uc010iep.3_Intron|GBA3_uc011bxo.2_Missense_Mutation_p.A227V	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	226					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	p.A226A(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCACTTTTTGCGGTCTGGTTG	0.433000														148			5		0	0	0.000602	0	0
ZNF420	147923	broad.mit.edu	37	19	37618294	37618294	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:37618294C>T	uc002ofl.3	+	4	616	c.401C>T	c.(400-402)tCt>tTt	p.S134F		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	Homo sapiens zinc finger protein 420 (ZNF420), mRNA.	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGATGTCATTCTACTGAGAAA	0.368000														39			11		0	0	0.001368	0	0
INO80B	83444	broad.mit.edu	37	2	74684951	74684951	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:74684951G>A	uc010yrs.2	+	3	1286	c.1085G>A	c.(1084-1086)gGg>gAg	p.G362E	INO80B_uc002slg.3_Missense_Mutation_p.G344E|INO80B_uc010yrr.2_Missense_Mutation_p.G316E|INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002slj.2_5'Flank|WBP1_uc002sll.2_5'Flank	NM_031288	NP_112578	Q9C086	IN80B_HUMAN	Homo sapiens INO80 complex subunit B (INO80B), mRNA.	344					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						ATGCGGCTGGGGGGGCCCGAG	0.662000														34			16		0	0	0.006122	0	0
FMO3	2328	broad.mit.edu	37	1	171080030	171080030	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:171080030G>A	uc001ghi.3	+	5	830	c.719G>A	c.(718-720)gGa>gAa	p.G240E	FMO3_uc001ghh.3_Missense_Mutation_p.G240E|FMO3_uc010pmb.2_Missense_Mutation_p.G220E|FMO3_uc010pmc.2_Missense_Mutation_p.G177E	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	240					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.G240E(2)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACTCGATTTGGAACCTTCCTC	0.468000														81			42		0	0	0.006999	0	0
GIGYF2	26058	broad.mit.edu	37	2	233677177	233677177	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:233677177C>T	uc002vtj.4	+	19	2413	c.2146C>T	c.(2146-2148)Cag>Tag	p.Q716*	GIGYF2_uc010zmj.1_Nonsense_Mutation_p.Q695*|GIGYF2_uc002vtg.2_Nonsense_Mutation_p.Q689*|GIGYF2_uc002vti.4_Nonsense_Mutation_p.Q695*|GIGYF2_uc002vtk.4_Nonsense_Mutation_p.Q695*|GIGYF2_uc002vth.4_Nonsense_Mutation_p.Q689*|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Nonsense_Mutation_p.Q526*|GIGYF2_uc002vtq.4_Nonsense_Mutation_p.Q28*	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	695	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CTGGGAGCTTCAGCCAACAGC	0.378000														31			10		0	0	0.001855	0	0
PLCG2	5336	broad.mit.edu	37	16	81944272	81944272	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:81944272C>T	uc002fgt.3	+	17	2059	c.1881C>T	c.(1879-1881)ttC>ttT	p.F627F	PLCG2_uc010chg.1_Silent_p.F627F	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	627	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GCGCCGAGTTCGAGCTGCGGC	0.632000														56			52		0	0	0.003610	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26084146	26084146	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:26084146G>A	uc002wvj.4	-	1	325	c.270C>T	c.(268-270)atC>atT	p.I90I						Homo sapiens nuclear receptor corepressor 1 pseudogene 1 (NCOR1P1), non-coding RNA.																		TCAGTTTAAGGATCTGCTGTT	0.313000														21			5		0	0	0.001168	0	0
COL4A5	1287	broad.mit.edu	37	X	107829883	107829883	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:107829883A>T	uc022ccg.1	+	18	1273	c.1071A>T	c.(1069-1071)gaA>gaT	p.E357D	COL4A5_uc004enz.1_Missense_Mutation_p.E357D|COL4A5_uc004eob.1_5'UTR	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	357	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CTATAGGAGAAAAAGGAAACA	0.423000									Alport syndrome with Diffuse Leiomyomatosis					33			47		0	0	0.003610	0	0
CEBPE	1053	broad.mit.edu	37	14	23588123	23588123	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:23588123C>A	uc001wiv.2	-	0	698	c.178G>T	c.(178-180)Gtg>Ttg	p.V60L		NM_001805	NP_001796	Q15744	CEBPE_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), epsilon (CEBPE), mRNA.	60						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		GCTGGCTTCACGGCAAAGAGA	0.642000														56			23		6.44725e-10	7.37599e-10	0.002299	1	0
ZC3H12D	340152	broad.mit.edu	37	6	149783087	149783087	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:149783087A>C	uc010kid.3	-	2	595	c.325T>G	c.(325-327)Ttc>Gtc	p.F109V	ZC3H12D_uc003qmn.1_Missense_Mutation_p.F109V	NM_207360	NP_997243	A2A288	ZC12D_HUMAN	Homo sapiens zinc finger CCCH-type containing 12D (ZC3H12D), mRNA.	109						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		CGGCAAGAGAAGGTTTCTTTA	0.458000														12			4		0	0	0.009096	0	0
NCOA6	23054	broad.mit.edu	37	20	33324560	33324560	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:33324560G>A	uc002xav.3	-	12	8467	c.5896C>T	c.(5896-5898)Ccg>Tcg	p.P1966S	NCOA6_uc002xaw.3_Missense_Mutation_p.P1966S|NCOA6_uc021wcd.1_Missense_Mutation_p.P973S	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	1966	EP300/CRSP3-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TTCTGCGACGGGGCTAAGGCA	0.408000														28			8		0	0	0.003080	0	0
KCNIP1	30820	broad.mit.edu	37	5	170145872	170145872	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:170145872C>T	uc003mas.3	+	2	734	c.205C>T	c.(205-207)Cga>Tga	p.R69*	KCNIP1_uc003map.3_Nonsense_Mutation_p.R67*|KCNIP1_uc003mat.3_Nonsense_Mutation_p.R58*|KCNIP1_uc010jjp.3_Nonsense_Mutation_p.R30*|KCNIP1_uc010jjq.3_Nonsense_Mutation_p.R58*	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Homo sapiens Kv channel interacting protein 1 (KCNIP1), transcript variant 1, mRNA.	69	EF-hand 1; degenerate.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	p.R69*(2)		autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTCCTTTATCGAGGCTTCAA	0.587000														58			14		0	0	0.002450	0	0
DDX46	9879	broad.mit.edu	37	5	134102645	134102645	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:134102645G>A	uc003kzw.3	+	2	413	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	DDX46_uc003kzv.1_Intron	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 (DDX46), mRNA.	82	Arg-rich.				RNA splicing|mRNA processing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCCGAGAGCGAAGAAGATCT	0.488000														20			12		0	0	0.000978	0	0
LGR6	59352	broad.mit.edu	37	1	202279388	202279388	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:202279388G>A	uc001gxu.3	+	15	1470	c.1470G>A	c.(1468-1470)aaG>aaA	p.K490K	LGR6_uc001gxv.3_Silent_p.K438K|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Silent_p.K351K	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	490						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GCTTCTTCAAGGCCTCTGGGC	0.582000														115			26		0	0	0.006320	0	0
ECE2	9718	broad.mit.edu	37	3	184008046	184008046	+	Missense_Mutation	SNP	G	A	A	rs142884324	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:184008046G>A	uc003fni.4	+	13	1947	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K	ECE2_uc011brh.1_Missense_Mutation_p.E490K|ECE2_uc003fnl.4_Missense_Mutation_p.E565K|ECE2_uc003fnm.4_Missense_Mutation_p.E519K|ECE2_uc003fnk.4_Missense_Mutation_p.E490K|ECE2_uc011bri.1_Missense_Mutation_p.E552K|ECE2_uc010hxv.3_Missense_Mutation_p.E281K	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	637	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCACAGTACGAAATTTCTGA	0.448000														10			7		0	0	0.003080	0	0
DNAH2	146754	broad.mit.edu	37	17	7702555	7702555	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:7702555C>T	uc002giu.1	+	54	8708	c.8694C>T	c.(8692-8694)ccC>ccT	p.P2898P		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2898	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGGGGATCCCTTCAGGTGAC	0.562000														45			9		0	0	0.006214	0	0
TCF20	6942	broad.mit.edu	37	22	42611304	42611304	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:42611304G>A	uc003bcj.1	-	0	142	c.8C>T	c.(7-9)tCc>tTc	p.S3F	TCF20_uc003bck.1_Missense_Mutation_p.S3F	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTCCCGAAAGGACTGCATACT	0.507000														75			36		0	0	0.005524	0	0
TRIB3	57761	broad.mit.edu	37	20	372142	372142	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:372142C>T	uc002wdn.3	+	3	901	c.584C>T	c.(583-585)aCc>aTc	p.T195I	TRIB3_uc002wdm.3_Missense_Mutation_p.T168I	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN	Homo sapiens tribbles homolog 3 (Drosophila) (TRIB3), mRNA.	168	Protein kinase.			ER -> DREK (in Ref. 3; AAK58175).	apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of MAP kinase activity|regulation of glucose transport|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		CAGATGGCCACCGCCCTGGCG	0.622000														22			5		0	0	0.001168	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6528392	6528392	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:6528392G>A	uc001anp.1	-	20	3233	c.2735C>T	c.(2734-2736)cCa>cTa	p.P912L	PLEKHG5_uc001ann.1_Missense_Mutation_p.P872L|PLEKHG5_uc001ano.1_Missense_Mutation_p.P891L|PLEKHG5_uc001anq.1_Intron|TNFRSF25_uc001ana.3_5'Flank|TNFRSF25_uc001anb.3_5'Flank|TNFRSF25_uc001anc.3_5'Flank|TNFRSF25_uc001and.3_5'Flank|TNFRSF25_uc009vlz.3_5'Flank|TNFRSF25_uc001ane.3_5'Flank|TNFRSF25_uc001anf.3_5'Flank|TNFRSF25_uc001ang.3_5'Flank|TNFRSF25_uc001anh.3_5'Flank|TNFRSF25_uc001ani.1_5'Flank|PLEKHG5_uc001anj.1_Missense_Mutation_p.P396L|PLEKHG5_uc009vma.1_Missense_Mutation_p.P675L|PLEKHG5_uc010nzr.1_Missense_Mutation_p.P904L|PLEKHG5_uc001ank.1_Missense_Mutation_p.P835L|PLEKHG5_uc009vmb.1_Missense_Mutation_p.P835L|PLEKHG5_uc001anl.1_Missense_Mutation_p.P835L|PLEKHG5_uc001anm.1_Missense_Mutation_p.P835L	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	891					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CTCTGCCATTGGGCCTGGGGC	0.682000														17			6		0	0	0.001168	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94639580	94639580	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:94639580T>C	uc001dqj.4	-	22	4000	c.3631A>G	c.(3631-3633)Aaa>Gaa	p.K1211E	ARHGAP29_uc009wdq.1_Intron	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	1211					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GCTGATGCTTTGTCTGGGTCT	0.547000														25			13		0	0	0.001855	0	0
SEMA3E	9723	broad.mit.edu	37	7	83047717	83047717	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:83047717G>A	uc003uhy.2	-	4	1160	c.539C>T	c.(538-540)tCc>tTc	p.S180F	SEMA3E_uc022agy.1_Missense_Mutation_p.S120F	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	180	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AATTAAAGTGGAGATGAAGGA	0.408000														6			16		0	0	0.004007	0	0
TUBB1	81027	broad.mit.edu	37	20	57598904	57598904	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:57598904G>A	uc002yak.3	+	3	691	c.422G>A	c.(421-423)gGg>gAg	p.G141E		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	Homo sapiens tubulin, beta 1 class VI (TUBB1), mRNA.	141					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	TCCCTGGGCGGGGGCACAGGC	0.592000														103			32		0	0	0.004289	0	0
FER1L6	654463	broad.mit.edu	37	8	125061927	125061927	+	Nonsense_Mutation	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:125061927T>A	uc003yqw.3	+	21	3010	c.2804T>A	c.(2803-2805)tTa>tAa	p.L935*	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	935						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCCCCCAGGTTATGCTATCAC	0.502000														52			29		0	0	0.007291	0	0
KDM3B	51780	broad.mit.edu	37	5	137726747	137726747	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:137726747C>T	uc003lcy.1	+	7	1626	c.1426C>T	c.(1426-1428)Ctc>Ttc	p.L476F	KDM3B_uc010jew.1_Missense_Mutation_p.L132F|KDM3B_uc011cys.1_Intron	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	476					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TGGAGCACCTCTCCCTAGTTC	0.443000														67			22		0	0	0.002299	0	0
STAG3	10734	broad.mit.edu	37	7	99802737	99802737	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:99802737C>T	uc003utx.1	+	27	3216	c.3061C>T	c.(3061-3063)Cat>Tat	p.H1021Y	STAG3_uc011kjk.1_Missense_Mutation_p.H963Y|GATS_uc010lgt.3_Intron|GATS_uc003uty.4_Intron|GATS_uc003utz.4_Intron|GATS_uc003uua.4_Intron|STAG3_uc003uub.1_Missense_Mutation_p.H245Y	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	1021					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCGACTCTTCCATCAGGACAA	0.537000														81			200		0	0	0.003610	0	0
GJB4	127534	broad.mit.edu	37	1	35227176	35227176	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:35227176G>A	uc001bxw.4	+	0	321	c.321G>A	c.(319-321)ctG>ctA	p.L107L	GJB4_uc001bxv.1_Silent_p.L107L	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA.	107					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AGCACCACCTGAAACACGGGC	0.642000														30			23		0	0	0.002299	0	0
TNXB	7148	broad.mit.edu	37	6	31977634	31977634	+	RNA	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:31977634G>A	uc021yvf.1	-	8		c.2178C>T						P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB-S, mRNA.						actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTGGGGAAGGGGATCCGCAG	0.701000														136			10		0	0	0.004007	0	0
DNAH7	56171	broad.mit.edu	37	2	196738347	196738347	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:196738347C>T	uc002utj.4	-	38	6459	c.6358G>A	c.(6358-6360)Gat>Aat	p.D2120N		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2120	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATGGATTTATCACTAAACTCA	0.274000														48			18		0	0	0.007413	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54905611	54905611	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:54905611G>A	uc001sgc.4	+	7	839	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.E204K	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	254					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TCTGTCTGTGGAAGTAATGGA	0.403000														60			29		0	0	0.003755	0	0
ITGA11	22801	broad.mit.edu	37	15	68607993	68607993	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:68607993C>T	uc010bib.3	-	21	2875	c.2788G>A	c.(2788-2790)Ggc>Agc	p.G930S	ITGA11_uc002ari.3_Missense_Mutation_p.G930S	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	930					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CCTGACCTGCCTGCAGCGAGC	0.587000														32			5		0	0	0.001168	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140724815	140724815	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140724815G>A	uc003ljm.2	+	0	1215	c.1215G>A	c.(1213-1215)gtG>gtA	p.V405V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.V405V	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	407	Cadherin 4.				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)			ACCGCTTAGTGACGGCCACAT	0.453000														46			22		0	0	0.010504	0	0
NARFL	64428	broad.mit.edu	37	16	789655	789655	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:789655G>A	uc002cjr.3	-	1	162	c.150C>T	c.(148-150)ttC>ttT	p.F50F	NARFL_uc002cjp.3_5'Flank|NARFL_uc002cjq.3_5'UTR|NARFL_uc021tab.1_Non-coding_Transcript|NARFL_uc010brc.1_Silent_p.F50F|NARFL_uc010uur.1_Silent_p.F50F	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	Homo sapiens nuclear prelamin A recognition factor-like (NARFL), mRNA.	50					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				GGTTAATTTGGAAGTAGCTCC	0.537000														53			40		0	0	0.003610	0	0
MPP1	4354	broad.mit.edu	37	X	154013346	154013346	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:154013346T>G	uc004fmp.2	-	6	918	c.764A>C	c.(763-765)tAt>tCt	p.Y255S	MPP1_uc011mzv.2_Missense_Mutation_p.Y225S|MPP1_uc010nvg.2_Missense_Mutation_p.Y235S|MPP1_uc011mzw.2_Missense_Mutation_p.Y238S|MPP1_uc010nvh.2_Missense_Mutation_p.Y129S	NM_002436	NP_002427	Q00013	EM55_HUMAN	Homo sapiens membrane protein, palmitoylated 1, 55kDa (MPP1), transcript variant 1, mRNA.	255					regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTTGGCCAGATATTTGTCTTT	0.522000														7			13		0	0	0.001855	0	0
AOX1	316	broad.mit.edu	37	2	201462153	201462153	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:201462153C>T	uc002uvx.3	+	3	335	c.234C>T	c.(232-234)atC>atT	p.I78I		NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	78	2Fe-2S ferredoxin-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TGATTCCCATCTGTTCTCTGT	0.483000														51			20		0	0	0.010504	0	0
C5orf25	375484	broad.mit.edu	37	5	175717911	175717911	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:175717911C>T	uc003mds.4	+	3	1734	c.1327C>T	c.(1327-1329)Cat>Tat	p.H443Y	C5orf25_uc003mdr.3_Intron|C5orf25_uc003mdt.4_Intron|C5orf25_uc011dfk.1_Missense_Mutation_p.H462Y			Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	443												all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		TCCTCCGGTTCATCACCTCTT	0.498000														18			11		0	0	0.008291	0	0
OR51B4	79339	broad.mit.edu	37	11	5322940	5322940	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:5322940G>A	uc010qza.2	-	0	237	c.237C>T	c.(235-237)gtC>gtT	p.V79V	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGACACCCAGGACTGTGGGCA	0.507000														49			28		0	0	0.006320	0	0
SCN10A	6336	broad.mit.edu	37	3	38770144	38770144	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:38770144G>A	uc003ciq.3	-	14	2529	c.2529C>T	c.(2527-2529)ttC>ttT	p.F843F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	843					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGAGGATACGGAAGACAATGA	0.502000														35			10		0	0	0.008291	0	0
RSPO1	284654	broad.mit.edu	37	1	38078505	38078505	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:38078505G>A	uc001cbl.2	-	7	1606	c.714C>T	c.(712-714)ggC>ggT	p.G238G	RSPO1_uc009vvf.2_Silent_p.G211G|RSPO1_uc001cbm.2_Silent_p.G238G|RSPO1_uc009vvg.2_Silent_p.G175G	NM_001038633	NP_001229837	Q2MKA7	RSPO1_HUMAN	Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA.	238					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTCTTCGAGAGCCAGCACCCG	0.642000														46			33		0	0	0.002445	0	0
LY96	23643	broad.mit.edu	37	8	74917030	74917030	+	Splice_Site	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:74917030G>A	uc003yad.3	+	2	227	c.113_splice	c.e2-1	p.D38_splice	LY96_uc022awb.1_Intron	NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	Homo sapiens lymphocyte antigen 96 (LY96), transcript variant 1, mRNA.	38					I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular defense response|detection of lipopolysaccharide|inflammatory response|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding	p.?(1)		endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			ATTGCTTTTAGATAAAATGCA	0.269000														49			15		0	0	0.003163	0	0
DENND3	22898	broad.mit.edu	37	8	142204213	142204213	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:142204213G>A	uc003yvy.3	+	22	3756	c.3478G>A	c.(3478-3480)Gag>Aag	p.E1160K	DENND3_uc010mep.3_Missense_Mutation_p.E1121K|DENND3_uc003ywa.1_3'UTR|DENND3_uc003ywb.3_Missense_Mutation_p.E210K	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	1160										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GAAGACCGTGGAGAAGGAGCT	0.637000														75			29		0	0	0.007291	0	0
C20orf94	128710	broad.mit.edu	37	20	10541448	10541448	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:10541448C>T	uc010zre.2	+	3	398	c.218C>T	c.(217-219)tCc>tTc	p.S73F		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	Homo sapiens chromosome 20 open reading frame 94 (C20orf94), mRNA.	73							protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	14						TTCACAAGATCCAATCCCTTG	0.383000														27			13		0	0	0.001855	0	0
MYH2	4620	broad.mit.edu	37	17	10443353	10443353	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:10443353C>T	uc010coi.3	-	11	1167	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E347K|MYH2_uc010coj.3_Missense_Mutation_p.E347K	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	347	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E347K(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ACCTTTTCTTCATTAGTAAAG	0.423000														71			16		0	0	0.004990	0	0
GRIP2	80852	broad.mit.edu	37	3	14581890	14581890	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:14581890G>A	uc021wtn.1	-	1	217	c.217C>T	c.(217-219)Ctg>Ttg	p.L73L	GRIP2_uc003byv.1_5'UTR	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	0	PDZ 1.				synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CCCCTCCCCAGGGAGGGGCTG	0.662000														15			6		0	0	0.001984	0	0
LRRTM2	26045	broad.mit.edu	37	5	138208914	138208914	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:138208914T>C	uc011cyz.1	-	1	1793	c.1336A>G	c.(1336-1338)Aag>Gag	p.K446E	CTNNA1_uc003ldh.3_Intron|CTNNA1_uc011cyx.2_Intron|CTNNA1_uc011cyy.2_Intron|CTNNA1_uc003ldi.3_Intron|CTNNA1_uc003ldj.3_Intron|LRRTM2_uc010jez.2_Non-coding_Transcript|LRRTM2_uc011cza.1_Missense_Mutation_p.K312E|CTNNA1_uc003ldl.3_5'Flank	NM_015564	NP_056379	O43300	LRRT2_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 2 (LRRTM2), mRNA.	446						cell junction|integral to membrane|postsynaptic membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGGCAGCACTTCCTGGAGATG	0.423000														70			23		0	0	0.002299	0	0
HMGN2P46	283651	broad.mit.edu	37	15	45848181	45848181	+	RNA	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:45848181G>A	uc001zvn.1	+	3		c.935G>A			HMGN2P46_uc010beg.1_Non-coding_Transcript|HMGN2P46_uc010beh.1_Non-coding_Transcript|HMGN2P46_uc010bei.1_Non-coding_Transcript|HMGN2P46_uc010bej.1_Non-coding_Transcript|HMGN2P46_uc001zvm.1_Non-coding_Transcript					Homo sapiens high mobility group nucleosomal binding domain 2 pseudogene 46 (HMGN2P46), non-coding RNA.																		TGTACAGTTTGAAATACTATT	0.318000														18			13		0	0	0.001855	0	0
OR10K2	391107	broad.mit.edu	37	1	158390030	158390030	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:158390030G>A	uc010pii.2	-	0	627	c.627C>T	c.(625-627)atC>atT	p.I209I		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					ACAATAAGGGGATAGCCAGGA	0.448000														37			7		0	0	0.001984	0	0
ECE2	9718	broad.mit.edu	37	3	184001643	184001643	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:184001643G>A	uc003fni.4	+	7	1279	c.1241G>A	c.(1240-1242)aGg>aAg	p.R414K	ECE2_uc011brh.1_Missense_Mutation_p.R267K|ECE2_uc003fnl.4_Missense_Mutation_p.R342K|ECE2_uc003fnm.4_Missense_Mutation_p.R296K|ECE2_uc003fnk.4_Missense_Mutation_p.R267K|ECE2_uc011bri.1_Missense_Mutation_p.R329K|ECE2_uc010hxv.3_Missense_Mutation_p.R58K	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	414	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACCTCCACGAGGGAGCAGATG	0.612000														26			20		0	0	0.007413	0	0
OR10A7	121364	broad.mit.edu	37	12	55615199	55615199	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:55615199C>T	uc010spf.2	+	0	391	c.391C>T	c.(391-393)Cat>Tat	p.H131Y		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TAACCCTCTCCATTATTCAGT	0.458000														68			35		0	0	0.003755	0	0
OR4K17	390436	broad.mit.edu	37	14	20586276	20586276	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:20586276C>T	uc001vwo.1	+	0	711	c.711C>T	c.(709-711)atC>atT	p.I237I		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GTGGCATAATCTCCCTGAGCT	0.413000														97			27		0	0	0.004656	0	0
RTL1	388015	broad.mit.edu	37	14	101351056	101351056	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:101351056C>T	uc010txj.1	-	0	129	c.70G>A	c.(70-72)Gag>Aag	p.E24K	MIR136_uc010txk.1_Non-coding_Transcript	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	24										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCGGAGGACTCCATTTGTTTT	0.542000														37			8		0	0	0.004482	0	0
SLC2A10	81031	broad.mit.edu	37	20	45353966	45353966	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:45353966C>T	uc002xsl.3	+	1	388	c.291C>T	c.(289-291)tcC>tcT	p.S97S		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	97						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TGGCTGGTTCCCTGGCCTGGC	0.632000														31			44		0	0	0.003610	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472375	47472375	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:47472375G>A	uc001rpm.3	-	2	1066	c.411C>T	c.(409-411)ttC>ttT	p.F137F	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Silent_p.F137F|AMIGO2_uc001rpl.3_Silent_p.F137F|AMIGO2_uc021qxg.1_Silent_p.F137F	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	137					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)					TCAACTCTTGGAATACAGCAT	0.438000														55			19		0	0	0.007413	0	0
FARP1	10160	broad.mit.edu	37	13	99047617	99047618	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:99047617_99047618CC>TT	uc001vnh.3	+	12	1540_1541	c.1301_1302CC>TT	c.(1300-1302)ccc>cTT	p.P434L	FARP1_uc001vnj.3_Missense_Mutation_p.P434L	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	434					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGGAGAAGCCCCGCGGGTAACA	0.693000														16			10		0	0	0.004672	0	0
UGT2B11	10720	broad.mit.edu	37	4	70079978	70079978	+	Missense_Mutation	SNP	G	A	A	rs142415589	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:70079978G>A	uc003heh.3	-	0	472	c.463C>T	c.(463-465)Ccc>Tcc	p.P155S	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	155					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TCACCACAGGGAAAAACAGCA	0.398000														91			13		0	0	0.001368	0	0
RGS5	8490	broad.mit.edu	37	1	163122481	163122481	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:163122481G>A	uc001gcn.3	-	3	581	c.243C>T	c.(241-243)ttC>ttT	p.F81F	RGS5_uc021pdu.1_5'UTR|RGS5_uc021pdt.1_Silent_p.F81F|RGS5_uc009wvb.3_5'UTR	NM_003617	NP_003608	O15539	RGS5_HUMAN	Homo sapiens regulator of G-protein signaling 5 (RGS5), transcript variant 1, mRNA.	81	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			CAGACTTCAGGAAACTTTTGA	0.398000														55			35		0	0	0.003755	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125530564	125530564	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:125530564C>T	uc010flu.3	+	16	3086	c.2722C>T	c.(2722-2724)Cga>Tga	p.R908*	CNTNAP5_uc002tno.3_Nonsense_Mutation_p.R907*	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	907	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.L908M(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGGCCATTTTCGACTGCAGCT	0.537000														107			46		0	0	0.003610	0	0
ZNF830	91603	broad.mit.edu	37	17	33289621	33289621	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:33289621G>A	uc002hih.4	+	0	1073	c.1036G>A	c.(1036-1038)Gaa>Aaa	p.E346K	CCT6B_uc002hig.3_5'Flank|CCT6B_uc010ctg.3_5'Flank|CCT6B_uc010wcc.2_5'Flank	NM_052857	NP_443089	Q96NB3	ZN830_HUMAN	Homo sapiens zinc finger protein 830 (ZNF830), mRNA.	346					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				GAAAAAGGAAGAAGAGAATGC	0.423000														47			42		0	0	0.009718	0	0
GALNT8	26290	broad.mit.edu	37	12	4829865	4829865	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:4829865C>T	uc001qne.1	+	0	114	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	8						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GAGGAAACTCCCCAAAGCCCT	0.502000														60			21		0	0	0.003330	0	0
PHKA2	5256	broad.mit.edu	37	X	18923922	18923922	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:18923922G>A	uc004cyv.4	-	25	3292	c.2862C>T	c.(2860-2862)ctC>ctT	p.L954L	PHKA2_uc010nfe.1_Silent_p.L4L|PHKA2_uc010nff.1_Non-coding_Transcript	NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	954			NL -> I (in GSD9A; type 1).		glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TATGGTGCAGGAGATTTTTCA	0.443000														39			62		0	0	0.003610	0	0
FILIP1	27145	broad.mit.edu	37	6	76024394	76024394	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:76024394T>G	uc010kbe.3	-	5	1693	c.1163A>C	c.(1162-1164)aAg>aCg	p.K388T	FILIP1_uc003phy.1_Missense_Mutation_p.K385T|FILIP1_uc003phz.3_Missense_Mutation_p.K286T|FILIP1_uc003pia.3_Missense_Mutation_p.K385T|FILIP1_uc003pib.1_Missense_Mutation_p.K137T	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	385										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AAGCACACGCTTTCGAAGATT	0.423000														154			5		0	0	0.000602	0	0
MMP8	4317	broad.mit.edu	37	11	102587050	102587050	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:102587050T>C	uc001phe.2	-	5	984	c.885A>G	c.(883-885)atA>atG	p.I295M	MMP8_uc010rut.1_Missense_Mutation_p.I230M|MMP8_uc010ruu.1_Missense_Mutation_p.I272M	NM_002424	NP_002415	P22894	MMP8_HUMAN	Homo sapiens matrix metallopeptidase 8 (neutrophil collagenase) (MMP8), mRNA.	295	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		TAAAGAAAAGTATTTCTCCAC	0.393000														97			19		0	0	0.006122	0	0
POMT2	29954	broad.mit.edu	37	14	77765075	77765075	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:77765075G>A	uc001xti.2	-	7	1164	c.963C>T	c.(961-963)gcC>gcT	p.A321A	POMT2_uc001xth.1_Silent_p.A19A	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	Homo sapiens protein-O-mannosyltransferase 2 (POMT2), mRNA.	321					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		CTGAAAGCCGGGCCTGGAAGG	0.532000														8			11		0	0	0.001368	0	0
PDZD2	23037	broad.mit.edu	37	5	31983420	31983420	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:31983420G>A	uc003jhl.3	+	2	1024	c.636G>A	c.(634-636)aaG>aaA	p.K212K	PDZD2_uc003jhm.3_Silent_p.K212K|PDZD2_uc011cnx.1_Silent_p.K38K	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	212					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTGCGAAAAAGGGGAAACGAA	0.537000														81			35		0	0	0.004289	0	0
DNAH5	1767	broad.mit.edu	37	5	13721305	13721305	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:13721305A>C	uc003jfd.2	-	70	12125	c.12083T>G	c.(12082-12084)gTt>gGt	p.V4028G	DNAH5_uc003jfc.2_Missense_Mutation_p.V196G	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4028	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTCTAAAATAACACCTTCGGC	0.473000									Kartagener syndrome					47			24		0	0	0.005443	0	0
STARD6	147323	broad.mit.edu	37	18	51858177	51858177	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:51858177G>A	uc010xdt.2	-	3	320	c.320C>T	c.(319-321)tCc>tTc	p.S107F		NM_139171	NP_631910	P59095	STAR6_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 6 (STARD6), mRNA.	107	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		GTCTCGAGGGGAAATGGAGCC	0.363000														31			13		0	0	0.003163	0	0
HCN1	348980	broad.mit.edu	37	5	45262081	45262081	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:45262081G>A	uc003jok.3	-	7	2640	c.2615C>T	c.(2614-2616)tCc>tTc	p.S872F		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	872						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TAAGACTGAGGAAGATTCTCT	0.512000														112			42		0	0	0.002852	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141461084	141461084	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:141461084G>A	uc003yvh.2	-	1	698	c.683C>T	c.(682-684)aCc>aTc	p.T228I	TRAPPC9_uc003yvj.2_Missense_Mutation_p.T130I|TRAPPC9_uc003yvi.1_Missense_Mutation_p.T130I	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	130					cell differentiation	Golgi apparatus|endoplasmic reticulum		p.R227L(1)		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						AGCCACGTCGGTGCGCGGCTG	0.577000														30			12		0	0	0.001855	0	0
GH2	2689	broad.mit.edu	37	17	61958410	61958410	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:61958410C>T	uc002jcl.1	-	2	332	c.270G>A	c.(268-270)agG>agA	p.R90R	GH2_uc002jcn.1_Silent_p.R75R|GH2_uc002jco.1_Silent_p.R90R|GH2_uc002jcm.1_Silent_p.R90R	NM_022557	NP_072051	P01242	SOM2_HUMAN	Homo sapiens growth hormone 2 (GH2), transcript variant 2, mRNA.	90			R -> W (in dbSNP:rs5389).			extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GCGTTTTCACCCTGTTGGAAG	0.557000														156			35		0	0	0.004878	0	0
PLVAP	83483	broad.mit.edu	37	19	17476392	17476392	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:17476392G>A	uc002ngk.1	-	2	922	c.882C>T	c.(880-882)atC>atT	p.I294I		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	294						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCACGCGTTCGATATCCGCCC	0.657000														27			10		0	0	0.000978	0	0
HTR3C	170572	broad.mit.edu	37	3	183773112	183773112	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:183773112C>T	uc003fmk.3	+	2	281	c.247C>T	c.(247-249)Cag>Tag	p.Q83*		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	83						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGCACAGCTCCAGCTGCTGAC	0.408000														33			22		0	0	0.004656	0	0
PCK1	5105	broad.mit.edu	37	20	56138725	56138725	+	Silent	SNP	C	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:56138725C>G	uc002xyn.4	+	5	1066	c.903C>G	c.(901-903)ccC>ccG	p.P301P	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	301					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCAGCCTCCCCGGGTGGAAGG	0.557000														68			56		0	0	0.003610	0	0
FRAS1	80144	broad.mit.edu	37	4	79334179	79334179	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:79334179G>A	uc003hlb.2	+	31	4805	c.4365G>A	c.(4363-4365)gcG>gcA	p.A1455A	FRAS1_uc003hkw.3_Silent_p.A1455A	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1454					cell communication	integral to membrane|plasma membrane	metal ion binding	p.I1454N(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCAACATCGCGATCTTACCAC	0.512000														18			5		0	0	0.003080	0	0
WDR27	253769	broad.mit.edu	37	6	170062419	170062419	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:170062419G>A	uc003qwx.3	-	8	1526	c.1006C>T	c.(1006-1008)Cca>Tca	p.P336S	WDR27_uc003qwv.2_5'Flank|WDR27_uc021zio.1_Missense_Mutation_p.P336S|WDR27_uc003qwy.3_Missense_Mutation_p.P209S|WDR27_uc003qwz.1_Missense_Mutation_p.P69S|WDR27_uc011egw.1_Non-coding_Transcript|WDR27_uc003qxa.1_Non-coding_Transcript	NM_182552	NP_872358	A2RRH5	WDR27_HUMAN	Homo sapiens WD repeat domain 27 (WDR27), transcript variant 1, mRNA.	306										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GCAGAATTTGGGATGAGTGAG	0.413000														76			29		0	0	0.002096	0	0
WASH6P	653440	broad.mit.edu	37	X	155252868	155252868	+	Silent	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:155252868T>A	uc004fnw.1	+	5	1571	c.912T>A	c.(910-912)ccT>ccA	p.P304P	WASH6P_uc022cip.1_Silent_p.P90P	NM_182905	NP_878908			Homo sapiens WAS protein family homolog 1 (WASH1), mRNA.									p.P304P(5)									TAGCCGAGCCTCTCAAGGCAG	0.632000														8			5		0	0	0.001984	0	0
DISP1	84976	broad.mit.edu	37	1	223178316	223178316	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:223178316G>A	uc001hnu.2	+	9	3903	c.3577G>A	c.(3577-3579)Gaa>Aaa	p.E1193K		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	1193					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TGAGTTTTATGAATTAGAACC	0.443000														283			142		0	0	0.003610	0	0
FAM27L	284123	broad.mit.edu	37	17	21825515	21825515	+	RNA	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:21825515G>A	uc002gyz.3	+	0		c.146G>A								Homo sapiens family with sequence similarity 27-like (FAM27L), non-coding RNA.											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		cgaaaccacaggcagagtccg	0.647000														50			12		0	0	0.001855	0	0
RELN	5649	broad.mit.edu	37	7	103236992	103236992	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:103236992C>T	uc022ajr.1	-	24	3610	c.3450G>A	c.(3448-3450)gaG>gaA	p.E1150E	RELN_uc022ajq.1_Silent_p.E1150E|RELN_uc010liz.3_Silent_p.E1150E	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1150					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.E1150D(2)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGACGCCCTCCTCTCTGCTGT	0.522000														65			174		0	0	0.003610	0	0
SETX	23064	broad.mit.edu	37	9	135156886	135156886	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:135156886G>A	uc004cbk.3	-	19	6805	c.6622C>T	c.(6622-6624)Cct>Tct	p.P2208S	SETX_uc004cbj.3_Missense_Mutation_p.P1827S|SETX_uc010mzt.3_Missense_Mutation_p.P1827S	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	2208					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AGCTGCTTAGGATCTCCTACT	0.418000														33			33		0	0	0.004289	0	0
FAM171B	165215	broad.mit.edu	37	2	187626618	187626618	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:187626618G>A	uc002ups.3	+	7	1661	c.1549G>A	c.(1549-1551)Ggt>Agt	p.G517S	FAM171B_uc002upr.1_Missense_Mutation_p.G484S|FAM171B_uc002upt.3_5'UTR	NM_177454	NP_803237	Q6P995	F171B_HUMAN	Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA.	517						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GTATCTCACAGGTAATGAGGA	0.428000														23			10		0	0	0.006214	0	0
PPM1H	57460	broad.mit.edu	37	12	63226043	63226043	+	Nonsense_Mutation	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:63226043T>A	uc001srk.3	-	1	411	c.262A>T	c.(262-264)Aag>Tag	p.K88*		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1H (PPM1H), mRNA.	88							phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		TGTGTGCTCTTCCCGGCATTG	0.542000														22			5		0	0	0.001168	0	0
TRPM7	54822	broad.mit.edu	37	15	50867312	50867312	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:50867312G>A	uc001zyt.4	-	33	5038	c.4756C>T	c.(4756-4758)Cgt>Tgt	p.R1586C	TRPM7_uc001zyr.3_Missense_Mutation_p.R23C	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	1586					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TCTTCCAAACGATACACTGTG	0.363000														31			12		0	0	0.001855	0	0
USP37	57695	broad.mit.edu	37	2	219341665	219341665	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:219341665G>A	uc010fvs.1	-	18	2354	c.1941C>T	c.(1939-1941)tgC>tgT	p.C647C	USP37_uc002vie.2_Silent_p.C647C|USP37_uc010zkf.1_Silent_p.C647C|USP37_uc002vif.2_Silent_p.C647C|USP37_uc002vig.2_Silent_p.C553C	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	Homo sapiens ubiquitin specific peptidase 37 (USP37), mRNA.	647					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CTGAATCAAGGCATAAAGCCA	0.393000														36			15		0	0	0.004007	0	0
RIMBP3	85376	broad.mit.edu	37	22	20458068	20458068	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:20458068G>A	uc002zsd.4	-	0	3719	c.3234C>T	c.(3232-3234)ttC>ttT	p.F1078F	RN7SK_uc021wlw.1_5'Flank	NM_015672	NP_056487			Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			AGAGTGTGTCGAAGGTGACGG	0.662000														38			7		0	0	0.003080	0	0
XCR1	2829	broad.mit.edu	37	3	46062686	46062686	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:46062686G>A	uc003cpe.3	-	2	978	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	AX747832_uc003cpd.1_5'Flank|XCR1_uc003cpf.3_Missense_Mutation_p.R252W|XCR1_uc021wwx.1_Missense_Mutation_p.R252W	NM_005283	NP_005274	P46094	XCR1_HUMAN	Homo sapiens chemokine (C motif) receptor 1 (XCR1), transcript variant 1, mRNA.	252					G-protein signaling, coupled to cyclic nucleotide second messenger|chemotaxis|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ATCTGGGTCCGAAACAGCGTC	0.602000														33			15		0	0	0.004007	0	0
FER1L6	654463	broad.mit.edu	37	8	125103708	125103708	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:125103708T>A	uc003yqw.3	+	33	4642	c.4436T>A	c.(4435-4437)aTc>aAc	p.I1479N	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1479						integral to membrane		p.E1478K(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCCACCGAAATCCTCACTAAG	0.453000														51			24		0	0	0.004656	0	0
FGF7	2252	broad.mit.edu	37	15	49775396	49775396	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:49775396G>A	uc001zxn.3	+	2	864	c.335G>A	c.(334-336)gGg>gAg	p.G112E	C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.3_Intron	NM_002009	NP_002000	P21781	FGF7_HUMAN	Homo sapiens fibroblast growth factor 7 (FGF7), mRNA.	112					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	GCAATCAAAGGGGTGGAAAGT	0.353000														19			13		0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179643629	179643629	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179643629G>A	uc021vsy.1	-	23	4405	c.4180C>T	c.(4180-4182)Ccc>Tcc	p.P1394S	TTN_uc021vsz.1_Missense_Mutation_p.P1348S|TTN_uc021vta.1_Missense_Mutation_p.P1348S|TTN_uc021vtb.1_Missense_Mutation_p.P1348S|TTN_uc002unb.2_Missense_Mutation_p.P1394S|AK123298_uc002unc.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1394							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P1393H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTAGTGTGGGAATGTAAGTC	0.383000														31			11		0	0	0.008291	0	0
CEACAM18	729767	broad.mit.edu	37	19	51981793	51981793	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:51981793G>A	uc002pwv.1	+	1	80	c.80G>A	c.(79-81)cGa>cAa	p.R27Q		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	27						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCTGGGAGACGAGACCGGCAG	0.652000														11			7		0	0	0.004482	0	0
DNAH5	1767	broad.mit.edu	37	5	13719100	13719100	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:13719100C>T	uc003jfd.2	-	71	12432	c.12390G>A	c.(12388-12390)atG>atA	p.M4130I	DNAH5_uc003jfc.2_Missense_Mutation_p.M298I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4130	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTCGGTGGTCATCCAGAGGC	0.473000									Kartagener syndrome					69			34		0	0	0.003271	0	0
UNC79	57578	broad.mit.edu	37	14	94083628	94083628	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:94083628C>T	uc001ybv.1	+	25	3820	c.3737C>T	c.(3736-3738)gCc>gTc	p.A1246V	UNC79_uc001ybs.1_Missense_Mutation_p.A1224V	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1401						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGGTTGAAGGCCTTGCTTGTC	0.498000														70			30		0	0	0.002096	0	0
FMNL2	114793	broad.mit.edu	37	2	153484972	153484972	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:153484972C>T	uc002tye.3	+	17	2692	c.2325C>T	c.(2323-2325)atC>atT	p.I775I	FMNL2_uc010fob.3_Silent_p.I231I|FMNL2_uc002tyf.3_Silent_p.I224I	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	775	FH2.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding	p.I775I(2)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						TTAGTAAAATCGAGAGGCTCA	0.483000														96			38		0	0	0.007835	0	0
ASTN1	460	broad.mit.edu	37	1	176926840	176926840	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:176926840G>A	uc001glc.3	-	10	2073	c.1861C>T	c.(1861-1863)Cgc>Tgc	p.R621C	ASTN1_uc001glb.1_Missense_Mutation_p.R621C|ASTN1_uc001gld.1_Missense_Mutation_p.R621C|ASTN1_uc009wwx.1_Missense_Mutation_p.R621C	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	629	EGF-like 2.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCCAGCTTGCGATCTGAAATA	0.537000														41			17		0	0	0.008871	0	0
USH1C	10083	broad.mit.edu	37	11	17547960	17547960	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:17547960C>T	uc001mnf.3	-	7	717	c.608G>A	c.(607-609)gGa>gAa	p.G203E	USH1C_uc001mne.3_Missense_Mutation_p.G203E|USH1C_uc009yhb.3_Missense_Mutation_p.G203E|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Missense_Mutation_p.G167E	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	203					G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TTCCCGATTTCCAGGGGAGCC	0.597000														21			15		0	0	0.006122	0	0
ADAM18	8749	broad.mit.edu	37	8	39495093	39495093	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:39495093C>T	uc003xni.3	+	8	753	c.698C>T	c.(697-699)tCc>tTc	p.S233F	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.S209F	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	233	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	p.S233F(2)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ATACTGTCTTCCTTGGAATTG	0.323000														27			16		0	0	0.004007	0	0
ANKH	56172	broad.mit.edu	37	5	14711411	14711411	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:14711411C>G	uc003jfm.4	-	11	1705	c.1374G>C	c.(1372-1374)aaG>aaC	p.K458N		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	Homo sapiens ankylosis, progressive homolog (mouse) (ANKH), mRNA.	458					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CATTCTCCATCTTCTTTTTCT	0.552000														127			49		0	0	0.003610	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182268	140182268	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140182268G>A	uc003lhf.2	+	0	1486	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.E496K	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	510	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P496T(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCTGGTGGAACGGCGGGT	0.677000														60			34		0	0	0.003610	0	0
PRSS58	136541	broad.mit.edu	37	7	141952147	141952147	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:141952147C>T	uc003vxb.3	-	4	940	c.620G>A	c.(619-621)gGa>gAa	p.G207E	PRSS58_uc003vxc.4_Missense_Mutation_p.G207E	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	207	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						AGACAGGATTCCTTGAAGCAT	0.398000														13			21		0	0	0.001882	0	0
FGA	2243	broad.mit.edu	37	4	155507418	155507418	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:155507418G>A	uc003iod.1	-	4	1221	c.1163C>T	c.(1162-1164)tCt>tTt	p.S388F	FGA_uc003ioe.1_Missense_Mutation_p.S388F|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	388					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCCAGATTCAGAGTGCCATTG	0.537000														57			23		0	0	0.002299	0	0
VAMP7	6845	broad.mit.edu	37	X	155119253	155119253	+	Nonsense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:155119253A>T	uc004fnr.3	+	1	302	c.124A>T	c.(124-126)Aaa>Taa	p.K42*	VAMP7_uc011naa.2_Intron|VAMP7_uc011nab.2_5'UTR|VAMP7_uc004fnt.3_Intron|VAMP7_uc004fns.3_Nonsense_Mutation_p.K42*|VAMP7_uc011nac.2_5'UTR	NM_005638	NP_005629	P51809	VAMP7_HUMAN	Homo sapiens vesicle-associated membrane protein 7 (VAMP7), transcript variant 1, mRNA.	42	Longin.				ER to Golgi vesicle-mediated transport|calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	Golgi apparatus|SNARE complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGAAAATAACAAACTAACGTA	0.443000														52			34		0	0	0.004289	0	0
DNAH9	1770	broad.mit.edu	37	17	11726147	11726147	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:11726147C>T	uc002gne.3	+	47	9110	c.9042C>T	c.(9040-9042)ttC>ttT	p.F3014F	DNAH9_uc010coo.3_Silent_p.F2308F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3014	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K3013*(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTAGCAAATTCATGGCCTTTG	0.433000														52			28		0	0	0.002096	0	0
VPS18	57617	broad.mit.edu	37	15	41191790	41191790	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:41191790C>T	uc001zne.3	+	3	1113	c.774C>T	c.(772-774)ttC>ttT	p.F258F		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.	258					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CACCCCCATTCCGTGAGTTTC	0.637000														59			25		0	0	0.004656	0	0
SLC43A2	124935	broad.mit.edu	37	17	1478958	1478958	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:1478958C>T	uc002fsu.3	-	14	1969	c.1662G>A	c.(1660-1662)caG>caA	p.Q554Q	SLC43A2_uc002fsv.3_Silent_p.Q550Q	NM_152346	NP_689559	Q8N370	LAT4_HUMAN	Homo sapiens solute carrier family 43, member 2 (SLC43A2), mRNA.	550					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		TGTCATCCTCCTGCCTCTGCT	0.622000														12			10		0	0	0.008291	0	0
CYP2B6	1555	broad.mit.edu	37	19	41515906	41515906	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:41515906C>T	uc002opr.1	+	5	837	c.830C>T	c.(829-831)tCc>tTc	p.S277F	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	277					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CAGGAGAAATCCAACGCACAC	0.592000														40			24		0	0	0.004656	0	0
C15orf2	23742	broad.mit.edu	37	15	24922388	24922388	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:24922388C>T	uc001ywo.3	+	0	1848	c.1374C>T	c.(1372-1374)atC>atT	p.I458I		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	458	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis			p.T457P(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CATTCACAATCCCTAACTCTC	0.498000														58			38		0	0	0.004289	0	0
RELN	5649	broad.mit.edu	37	7	103322673	103322673	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:103322673G>A	uc022ajr.1	-	10	1339	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	RELN_uc022ajq.1_Silent_p.F393F|RELN_uc010liz.3_Silent_p.F393F	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	393					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CATTTCCATGGAAATAAATGG	0.448000														83			65		0	0	0.003610	0	0
PRIM1	5557	broad.mit.edu	37	12	57132269	57132269	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:57132269C>T	uc001smd.3	-	10	1157	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K		NM_000946	NP_000937	P49642	PRI1_HUMAN	Homo sapiens primase, DNA, polypeptide 1 (49kDa) (PRIM1), mRNA.	365					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding			kidney(1)|lung(6)|prostate(1)	8						TCTTTTTCCTCTTCATTAGTG	0.358000														6			4		0	0	0.000602	0	0
TMEM100	55273	broad.mit.edu	37	17	53798111	53798111	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:53798111C>T	uc002iuj.4	-	1	632	c.321G>A	c.(319-321)tgG>tgA	p.W107*	TMEM100_uc002iuk.4_Nonsense_Mutation_p.W107*|TMEM100_uc021uai.1_Nonsense_Mutation_p.W107*	NM_018286	NP_060756	Q9NV29	TM100_HUMAN	Homo sapiens transmembrane protein 100 (TMEM100), transcript variant 2, mRNA.	107						integral to membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						GTCTCACTTTCCAGCACAAGG	0.463000														75			18		0	0	0.007413	0	0
LRP4	4038	broad.mit.edu	37	11	46918471	46918471	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:46918471C>T	uc001ndn.4	-	7	1114	c.871G>A	c.(871-873)Ggg>Agg	p.G291R		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	291	LDL-receptor class A 7.				Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TCGTCCTCCCCATCACAGCGC	0.572000														76			27		0	0	0.006320	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409093	56409093	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:56409093C>T	uc001njb.1	-	0	823	c.823G>A	c.(823-825)Gag>Aag	p.E275K	OR8U8_uc001nit.2_Intron	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AP, member 2 (OR5AP2), mRNA.	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						TTGTCTTGCTCCATTGAGTAG	0.408000														48			23		0	0	0.002780	0	0
AP2A2	161	broad.mit.edu	37	11	1006571	1006571	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:1006571C>T	uc001lst.2	+	16	2466	c.2253C>T	c.(2251-2253)ttC>ttT	p.F751F	AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Silent_p.F750F	NM_001242837	NP_001229766	O94973	AP2A2_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA.	750					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCACGCAGTTCCTAAACTTTA	0.423000														88			27		0	0	0.009535	0	0
MCHR2	84539	broad.mit.edu	37	6	100403968	100403968	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:100403968G>A	uc003pqh.1	-	1	371	c.56C>T	c.(55-57)tCc>tTc	p.S19F	MCHR2_uc003pqi.1_Missense_Mutation_p.S19F	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	19						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTTATTCCAGGATTTGTTTAA	0.423000														61			33		0	0	0.002836	0	0
CR1	1378	broad.mit.edu	37	1	207737282	207737282	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:207737282G>A	uc001hfy.3	+	13	2450	c.2310G>A	c.(2308-2310)caG>caA	p.Q770Q	CR1_uc009xcl.1_Intron|CR1_uc001hfx.3_Silent_p.Q1220Q|CR1_uc021pij.1_Silent_p.Q770Q|CR1_uc009xck.1_Intron	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	770	Sushi 12.				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						CACCCGGGCAGGAAGTGTTCT	0.582000														30			38		0	0	0.003610	0	0
HSD17B13	345275	broad.mit.edu	37	4	88235055	88235055	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:88235055G>A	uc003hqo.2	-	4	678	c.615C>T	c.(613-615)gcC>gcT	p.A205A	HSD17B13_uc010ikk.2_Silent_p.A169A	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 13 (HSD17B13), transcript variant A, mRNA.	205						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TTTTTCCCAAGGCCTGAAGTT	0.413000														30			9		0	0	0.004482	0	0
MAST4	375449	broad.mit.edu	37	5	66459555	66459555	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:66459555G>A	uc021xzk.1	+	28	4856	c.4548G>A	c.(4546-4548)cgG>cgA	p.R1516R	MAST4_uc003jut.2_Silent_p.R1327R|MAST4_uc003juw.3_Silent_p.R1255R|MAST4_uc003jux.3_5'Flank	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1519						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)		CAGTCTCCCGGAAGGTGGGCC	0.652000														15			6		0	0	0.001168	0	0
FGFBP1	9982	broad.mit.edu	37	4	15937826	15937826	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:15937826G>A	uc003gom.3	-	2	725	c.430C>T	c.(430-432)Cca>Tca	p.P144S	FGFBP1_uc021xml.1_Missense_Mutation_p.P144S	NM_005130	NP_005121	Q14512	FGFP1_HUMAN	Homo sapiens fibroblast growth factor binding protein 1 (FGFBP1), mRNA.	144					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						CTGGATTCTGGAAAATCCTTT	0.463000														36			23		0	0	0.003330	0	0
CCDC68	80323	broad.mit.edu	37	18	52609970	52609970	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:52609970T>A	uc002lfs.3	-	2	225	c.53A>T	c.(52-54)gAt>gTt	p.D18V	CCDC68_uc002lft.3_Missense_Mutation_p.D18V	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	18										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		GGCAGAATTATCTTCCATCTT	0.388000														42			24		0	0	0.003330	0	0
SAGE1	55511	broad.mit.edu	37	X	134990694	134990694	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:134990694G>A	uc004ezh.3	+	11	1526	c.1359G>A	c.(1357-1359)caG>caA	p.Q453Q	SAGE1_uc010nry.1_Silent_p.Q422Q|SAGE1_uc011mvv.2_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	453										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AACGAAAACAGGATAACGTCT	0.418000														21			47		0	0	0.002522	0	0
BRWD1	54014	broad.mit.edu	37	21	40574327	40574327	+	Silent	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:40574327A>G	uc002yxk.2	-	37	4804	c.4509T>C	c.(4507-4509)ggT>ggC	p.G1503G	BRWD1_uc010goc.1_Silent_p.G146G|BRWD1_uc021wjf.1_Silent_p.G1503G|BRWD1_uc010god.1_Silent_p.G421G	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	1503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTGAAGAGTCACCAGAAGTAA	0.408000														44			15		0	0	0.004990	0	0
CXorf59	286464	broad.mit.edu	37	X	36162702	36162702	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:36162702G>A	uc004ddk.1	+	10	1471	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	429						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						gtttccaaaggagatggatgc	0.468000														14			14		0	0	0.003163	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41000800	41000800	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:41000800G>A	uc003jmj.4	-	37	4820	c.4330C>T	c.(4330-4332)Ccc>Tcc	p.P1444S	HEATR7B2_uc003jmi.4_Missense_Mutation_p.P999S	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1444							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TTGGGGTTGGGATCCCAAAGG	0.483000														20			8		0	0	0.003080	0	0
LOC401127	401127	broad.mit.edu	37	4	39483090	39483090	+	RNA	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:39483090C>T	uc011byn.2	+	0		c.1216C>T								Homo sapiens WD repeat domain 5 pseudogene (LOC401127), non-coding RNA.																		CTGTTAAGTCCCTTTGCTCCC	0.507000														21			3		0	0	0.004672	0	0
MARCH1	55016	broad.mit.edu	37	4	164506997	164506997	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:164506997G>A	uc003iqs.2	-	5	509	c.327C>T	c.(325-327)tcC>tcT	p.S109S	MARCH1_uc003iqr.2_Silent_p.S92S	NM_001166373	NP_001159845	Q8TCQ1	MARH1_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 1 (MARCH1), transcript variant 1, mRNA.	109					antigen processing and presentation of peptide antigen via MHC class II|immune response	Golgi apparatus|cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGTGGAGGCAGGACTGGTGGA	0.542000														50			21		0	0	0.008871	0	0
CTNND2	1501	broad.mit.edu	37	5	11023081	11023081	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:11023081G>A	uc003jfa.1	-	16	2944	c.2799C>T	c.(2797-2799)gcC>gcT	p.A933A	CTNND2_uc010itt.2_Silent_p.A842A|CTNND2_uc011cmy.1_Silent_p.A596A|CTNND2_uc011cmz.1_Silent_p.A500A|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.A525A	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	933					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGTCTCGCATGGCGTATTTGC	0.507000														33			19		0	0	0.008871	0	0
SYNE1	23345	broad.mit.edu	37	6	152646420	152646420	+	Silent	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:152646420A>G	uc021zhb.1	-	78	15679	c.15456T>C	c.(15454-15456)gtT>gtC	p.V5152V	SYNE1_uc003qot.4_Silent_p.V5081V|SYNE1_uc003qou.4_Silent_p.V5152V|SYNE1_uc010kiz.3_Silent_p.V907V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5152					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGAAAGAGTTAACCACTGACA	0.443000										HNSCC(10;0.0054)				82			42		0	0	0.006230	0	0
ASPRV1	151516	broad.mit.edu	37	2	70187831	70187831	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:70187831C>T	uc002sfz.4	-	0	1567	c.990G>A	c.(988-990)gaG>gaA	p.E330E		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	Homo sapiens aspartic peptidase, retroviral-like 1 (ASPRV1), mRNA.	330					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						AGGAGGGGTCCTCCTCTATGA	0.552000														92			37		0	0	0.002522	0	0
SNCA	6622	broad.mit.edu	37	4	90650377	90650377	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:90650377G>A	uc003hsq.3	-	4	617	c.358C>T	c.(358-360)Cct>Tct	p.P120S	SNCA_uc010ikt.3_Missense_Mutation_p.P106S|SNCA_uc003hso.3_Intron|SNCA_uc003hsp.3_Missense_Mutation_p.P120S|SNCA_uc003hsr.3_Missense_Mutation_p.P120S|DQ571524_uc011cdr.2_5'Flank	NM_001146054	NP_001139527	P37840	SYUA_HUMAN	Homo sapiens synuclein, alpha (non A4 component of amyloid precursor) (SNCA), transcript variant 2, mRNA.	120					activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis	actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse	Hsp70 protein binding|alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)	Melatonin(DB01065)	TCATTGTCAGGATCCACAGGC	0.388000														52			29		0	0	0.002096	0	0
RFX7	64864	broad.mit.edu	37	15	56387725	56387725	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:56387725G>A	uc010bfn.3	-	8	2201	c.2201C>T	c.(2200-2202)tCc>tTc	p.S734F	RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Missense_Mutation_p.S548F	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	637					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AAGGGCAGAGGAATTCAAGGG	0.413000														29			9		0	0	0.006214	0	0
DNAH5	1767	broad.mit.edu	37	5	13771003	13771003	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:13771003C>T	uc003jfd.2	-	55	9502	c.9460G>A	c.(9460-9462)Gat>Aat	p.D3154N	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3154	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCCACCCCATCCTGGAAGGAG	0.448000									Kartagener syndrome					53			27		0	0	0.004656	0	0
SH2D7	646892	broad.mit.edu	37	15	78390783	78390783	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:78390783G>A	uc010blb.1	+	3	490	c.490G>A	c.(490-492)Gac>Aac	p.D164N		NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN	Homo sapiens SH2 domain containing 7 (SH2D7), mRNA.	164										endometrium(2)|kidney(2)|lung(3)	7						GACCATCGTGGACCCAGAAAA	0.617000														38			57		0	0	0.003610	0	0
HRH1	3269	broad.mit.edu	37	3	11301359	11301359	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:11301359G>A	uc010hdr.3	+	1	978	c.636G>A	c.(634-636)aaG>aaA	p.K212K	HRH1_uc010hds.3_Silent_p.K212K|HRH1_uc010hdt.3_Silent_p.K212K|HRH1_uc003bwb.4_Silent_p.K212K|HRH1_uc021wtb.1_Silent_p.K212K	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	212					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TCTATGCCAAGATCTACAAGG	0.512000														98			49		0	0	0.003610	0	0
PDGFRA	5156	broad.mit.edu	37	4	54310258	54310258	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:54310258C>T	uc003gzy.3	+	14	1459	c.1273C>T	c.(1273-1275)Cca>Tca	p.P425S	PDGFRA_uc003haa.3_Intron|PDGFRA_uc011bzu.2_Missense_Mutation_p.P419S|PDGFRA_uc003gzz.3_Missense_Mutation_p.P351S|PDGFRA_uc003hab.3_Missense_Mutation_p.P390S|PDGFRA_uc010ign.3_Non-coding_Transcript|FIP1L1_uc003hae.3_Silent_p.F9F	NM_030917	NP_112179	P16234	PGFRA_HUMAN	Homo sapiens FIP1 like 1 (S. cerevisiae) (FIP1L1), transcript variant 1, mRNA.	0	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ACGTGCATTTCCATATGGCAA	0.308000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				30			15		0	0	0.004990	0	0
SORCS3	22986	broad.mit.edu	37	10	107022146	107022146	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:107022146G>A	uc001kyi.1	+	25	3728	c.3501G>A	c.(3499-3501)atG>atA	p.M1167I		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1167						integral to membrane	neuropeptide receptor activity	p.M1167I(2)|p.E1166D(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGCAGGAGATGATTGGGTCAG	0.498000														22			14		0	0	0.002450	0	0
KAT6A	7994	broad.mit.edu	37	8	41832276	41832276	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:41832276G>A	uc010lxb.3	-	8	1972	c.1428C>T	c.(1426-1428)atC>atT	p.I476I	KAT6A_uc010lxc.3_Silent_p.I476I|KAT6A_uc003xon.4_Silent_p.I476I|KAT6A_uc010lxd.3_Silent_p.I476I	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	476	Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										TCTCAGTCATGATTTCCTGGC	0.398000														45			19		0	0	0.006122	0	0
A2ML1	144568	broad.mit.edu	37	12	8976444	8976444	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:8976444G>A	uc001quz.4	+	2	473	c.375G>A	c.(373-375)caG>caA	p.Q125Q		NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	0						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CCTTTGTACAGACTGACAAAC	0.502000														49			25		0	0	0.008361	0	0
UGT2A3	79799	broad.mit.edu	37	4	69798379	69798379	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:69798379G>A	uc003hef.2	-	2	994	c.963C>T	c.(961-963)atC>atT	p.I321I	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	321						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTGAAGCAATGATATTAGCCT	0.403000														91			47		0	0	0.003610	0	0
SPTBN5	51332	broad.mit.edu	37	15	42158681	42158681	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:42158681C>T	uc001zos.3	-	36	6719	c.6386G>A	c.(6385-6387)tGg>tAg	p.W2129*		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	2164					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CGCCTGGATCCAGTCCTCAGC	0.632000														26			6		0	0	0.001984	0	0
GREB1	9687	broad.mit.edu	37	2	11706631	11706631	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:11706631G>A	uc002rbk.1	+	3	603	c.303G>A	c.(301-303)ctG>ctA	p.L101L	GREB1_uc002rbl.3_Silent_p.L101L|GREB1_uc002rbm.3_5'UTR|GREB1_uc002rbn.1_Silent_p.L101L	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	101						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGAAGGACCTGCGCCTTGTCT	0.642000														43			23		0	0	0.003330	0	0
ATF1	466	broad.mit.edu	37	12	51208074	51208074	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:51208074G>A	uc001rww.4	+	5	831	c.523G>A	c.(523-525)Gat>Aat	p.D175N	ATF1_uc010smu.2_Missense_Mutation_p.D40N	NM_005171	NP_005162	P18846	ATF1_HUMAN	Homo sapiens activating transcription factor 1 (ATF1), mRNA.	175					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway				EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4						TGCATCAGGAGATATGCAAAC	0.418000			T	"""EWSR1, FUS"""	"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """									37			19		0	0	0.002299	0	0
RIMS1	22999	broad.mit.edu	37	6	73110358	73110358	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:73110358G>A	uc003pga.3	+	33	5098	c.5021G>A	c.(5020-5022)cGg>cAg	p.R1674Q	RIMS1_uc011dyb.2_Missense_Mutation_p.R1071Q|RIMS1_uc003pgc.3_Missense_Mutation_p.R1089Q|RIMS1_uc010kaq.3_Missense_Mutation_p.R994Q|RIMS1_uc011dyc.2_Missense_Mutation_p.R799Q|RIMS1_uc010kar.3_Missense_Mutation_p.R742Q|RIMS1_uc011dyd.2_Missense_Mutation_p.R808Q|RIMS1_uc003pge.3_Missense_Mutation_p.R714Q|RIMS1_uc003pgf.3_Missense_Mutation_p.R674Q|RIMS1_uc003pgi.3_Missense_Mutation_p.R490Q|RIMS1_uc003pgg.3_Missense_Mutation_p.R570Q|RIMS1_uc003pgh.3_Missense_Mutation_p.R541Q|RIMS1_uc003pgd.3_Missense_Mutation_p.R740Q|RIMS1_uc011dye.2_Missense_Mutation_p.R480Q|RIMS1_uc011dyf.2_Missense_Mutation_p.R298Q|RIMS1_uc011dyg.2_Missense_Mutation_p.R201Q	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1674					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CCCCTCACCCGGCGGGCTTCC	0.498000														59			33		0	0	0.004878	0	0
NLRP8	126205	broad.mit.edu	37	19	56466710	56466711	+	Missense_Mutation	DNP	GG	AA	AA	rs150630809	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:56466710_56466711GG>AA	uc002qmh.3	+	2	1357_1358	c.1286_1287GG>AA	c.(1285-1287)cgg>cAA	p.R429Q	NLRP8_uc010etg.3_Missense_Mutation_p.R429Q	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	429	NACHT.					cytoplasm	ATP binding	p.V428I(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTGTTCGTCCGGTATATTTCTA	0.490000														69			31		0	0	0.004672	0	0
DMPK	1760	broad.mit.edu	37	19	46280717	46280717	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:46280717G>A	uc002pdi.1	-	8	1278	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F	DMPK_uc010xxs.1_Silent_p.F249F|DMPK_uc002pdd.1_Silent_p.F348F|DMPK_uc002pde.1_Silent_p.F348F|DMPK_uc002pdg.1_Silent_p.F338F|DMPK_uc002pdf.1_Silent_p.F338F|DMPK_uc002pdh.1_Silent_p.F338F|DMPK_uc010xxt.1_Silent_p.F338F	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	348	AGC-kinase C-terminal.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GGCCAAAGAAGAAGGGATGTG	0.627000														39			15		0	0	0.003163	0	0
C14orf43	91748	broad.mit.edu	37	14	74203779	74203779	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:74203779G>A	uc010tud.1	-	1	1918	c.1671C>T	c.(1669-1671)aaC>aaT	p.N557N	C14orf43_uc001xot.3_Silent_p.N557N|C14orf43_uc001xou.3_Silent_p.N557N|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GCTCAGCAGGGTTCTGTTCAG	0.602000														46			24		0	0	0.003330	0	0
F2RL1	2150	broad.mit.edu	37	5	76128722	76128722	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:76128722T>A	uc003keo.3	+	1	465	c.290T>A	c.(289-291)cTg>cAg	p.L97Q		NM_005242	NP_005233	P55085	PAR2_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.	97					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		GGCATGGCCCTGTGGGTCTTT	0.488000														444			195		0	0	0.003610	0	0
PNKP	11284	broad.mit.edu	37	19	50370414	50370414	+	Silent	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:50370414A>G	uc002pqj.3	-	1	158	c.48T>C	c.(46-48)ccT>ccC	p.P16P	PNKP_uc002pqg.3_5'Flank|PNKP_uc002pqi.3_5'UTR|PNKP_uc021uxx.1_Silent_p.P16P	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	Homo sapiens polynucleotide kinase 3'-phosphatase (PNKP), mRNA.	16					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	p.P16P(12)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GCGCTCCCCCAGGGGGGCTCT	0.721000								Other BER factors						25			6		0	0	0.004482	0	0
RIT2	6014	broad.mit.edu	37	18	40323574	40323574	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:40323574C>T	uc002lav.3	-	4	711	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	RIT2_uc010dnf.3_3'UTR	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA.	180					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding	p.E180K(2)|p.R179K(1)		endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTGCGAATTTCCCTCACTAAG	0.423000														59			27		0	0	0.006320	0	0
ABCB1	5243	broad.mit.edu	37	7	87170762	87170762	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:87170762C>T	uc003uiz.2	-	18	2723	c.2230G>A	c.(2230-2232)Gat>Aat	p.D744N	ABCB1_uc011khc.2_Missense_Mutation_p.D680N	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	744	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GTTTCAGGATCATCAATTCTT	0.353000														41			44		0	0	0.003610	0	0
OGDHL	55753	broad.mit.edu	37	10	50944403	50944403	+	Splice_Site	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:50944403C>T	uc009xog.3	-	20	2869	c.2835_splice	c.e20+1	p.Q945_splice	OGDHL_uc001jie.3_Splice_Site_p.Q918_splice|OGDHL_uc010qgt.2_Splice_Site_p.Q861_splice|OGDHL_uc010qgu.2_Splice_Site_p.Q709_splice	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	918					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TCAGGCACACCTGCTCCAGGC	0.617000														45			32		0	0	0.009535	0	0
ZAN	7455	broad.mit.edu	37	7	100373429	100373429	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:100373429G>A	uc003uwj.3	+	33	6328	c.6163G>A	c.(6163-6165)Gaa>Aaa	p.E2055K	ZAN_uc003uwk.3_Missense_Mutation_p.E2055K|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Missense_Mutation_p.E143K	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2056	VWFD 3.				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)			CTTAGAGATTGAAATCCCCAC	0.537000														18			34		0	0	0.003271	0	0
PDE4A	5141	broad.mit.edu	37	19	10577709	10577709	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:10577709C>T	uc002moj.2	+	14	2181	c.2073C>T	c.(2071-2073)ccC>ccT	p.P691P	PDE4A_uc021uow.1_Silent_p.P669P|PDE4A_uc002mok.2_Silent_p.P665P|PDE4A_uc002mol.2_Silent_p.P630P|PDE4A_uc002mom.2_Silent_p.P452P|PDE4A_uc002moo.2_3'UTR	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA.	691	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CTCCGCCACCCGAGGAGGAGT	0.607000														40			11		0	0	0.000978	0	0
RGAG4	340526	broad.mit.edu	37	X	71350719	71350719	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:71350719G>A	uc010nlh.2	-	0	672	c.672C>T	c.(670-672)atC>atT	p.I224I	NHSL2_uc011mqa.2_Intron|RGAG4_uc004eaj.2_Silent_p.I224I|NHSL2_uc004eak.1_5'Flank	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	Homo sapiens retrotransposon gag domain containing 4 (RGAG4), mRNA.	224										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					ATTCCTTACGGATTTCATCCA	0.567000														20			30		0	0	0.009535	0	0
ERP44	23071	broad.mit.edu	37	9	102744907	102744907	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:102744907C>T	uc004bam.3	-	11	1416	c.1208G>A	c.(1207-1209)cGa>cAa	p.R403Q	ERP44_uc010msy.3_Non-coding_Transcript	NM_015051	NP_055866	Q9BS26	ERP44_HUMAN	Homo sapiens endoplasmic reticulum protein 44 (ERP44), mRNA.	403					cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	ER-Golgi intermediate compartment|endoplasmic reticulum lumen|endoplasmic reticulum membrane	protein binding|protein disulfide isomerase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						AAGCTCATCTCGATCCCTCAA	0.393000														18			12		0	0	0.001368	0	0
JARID2	3720	broad.mit.edu	37	6	15511546	15511546	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:15511546G>A	uc003nbj.3	+	12	3110	c.2866G>A	c.(2866-2868)Gag>Aag	p.E956K	JARID2_uc011div.2_Missense_Mutation_p.E784K	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	956	JmjC.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TCCTGCTGAGGAGGAGAACAA	0.572000														77			35		0	0	0.004878	0	0
OR5H1	26341	broad.mit.edu	37	3	97852245	97852245	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:97852245G>T	uc011bgt.2	+	0	704	c.704G>T	c.(703-705)aGg>aTg	p.R235M		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V234L(1)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AAAGGTGTAAGGAAAGCCTTT	0.403000														63			26		5.35047e-06	6.10497e-06	0.003330	1	0
PCSK1	5122	broad.mit.edu	37	5	95734685	95734685	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:95734685C>T	uc003kls.2	-	10	1725	c.1486G>A	c.(1486-1488)Gga>Aga	p.G496R	PCSK1_uc010jbi.2_Missense_Mutation_p.G186R|PCSK1_uc021ybq.1_Missense_Mutation_p.G449R	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	496					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTTCTTGTCCTTCACAAGCT	0.373000														23			7		0	0	0.001984	0	0
OR10A3	26496	broad.mit.edu	37	11	7960190	7960190	+	Missense_Mutation	SNP	C	T	T	rs146552050		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:7960190C>T	uc010rbi.2	-	0	878	c.878G>A	c.(877-879)cGa>cAa	p.R293Q		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCACTGTTTCGTAAGCTATA	0.418000														43			14		0	0	0.002450	0	0
ZNF831	128611	broad.mit.edu	37	20	57767358	57767358	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:57767358G>A	uc002yan.3	+	0	1284	c.1284G>A	c.(1282-1284)cgG>cgA	p.R428R		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	428						intracellular	nucleic acid binding|zinc ion binding	p.V427L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACAACGTGCGGCCCCGGAAGA	0.657000														25			7		0	0	0.003080	0	0
PRR23B	389151	broad.mit.edu	37	3	138739050	138739050	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:138739050C>T	uc003esy.1	-	0	719	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	152										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TAGGCCTCTTCCTGGGCGGCG	0.647000														51			22		0	0	0.002299	0	0
MACF1	23499	broad.mit.edu	37	1	39910341	39910341	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:39910341A>T	uc021olw.1	+	44	14768	c.14768A>T	c.(14767-14769)tAt>tTt	p.Y4923F	MACF1_uc021ols.1_Missense_Mutation_p.Y4418F|MACF1_uc021olt.1_Missense_Mutation_p.Y4421F	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	6489					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TAGGAACTCTATTCCCAGCTG	0.448000														24			12		0	0	0.001368	0	0
WARS	7453	broad.mit.edu	37	14	100820807	100820807	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:100820807G>A	uc001yhh.1	-	4	900	c.519C>T	c.(517-519)caC>caT	p.H173H	WARS_uc001yhi.1_Silent_p.H132H|WARS_uc001yhg.2_Silent_p.H173H|WARS_uc001yhl.1_Silent_p.H173H|WARS_uc001yhk.1_Silent_p.H132H|WARS_uc010twz.1_Silent_p.H173H	NM_004184	NP_998811	P23381	SYWC_HUMAN	Homo sapiens tryptophanyl-tRNA synthetase (WARS), transcript variant 1, mRNA.	173					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	ATGGAATGAGGTGACCTACAT	0.378000														41			27		0	0	0.007291	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47423263	47423263	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:47423263C>T	uc010ekv.3	+	0	1331	c.1331C>T	c.(1330-1332)cCt>cTt	p.P444L		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	444	FF 3.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										GAGACTTCTCCTTTCATAACT	0.453000														32			18		0	0	0.006122	0	0
NUFIP1	26747	broad.mit.edu	37	13	45563540	45563540	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:45563540G>A	uc001uzp.2	-	0	74	c.32C>T	c.(31-33)cCt>cTt	p.P11L	KIAA1704_uc010tfo.1_5'Flank|KIAA1704_uc001uzq.3_5'Flank|KIAA1704_uc001uzr.1_5'Flank|KIAA1704_uc001uzs.3_5'Flank	NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 1 (NUFIP1), mRNA.	11					RNA processing|box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|RNA binding|identical protein binding|protein binding, bridging|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		CCACCCGATAGGAGTCTCGAA	0.622000														25			7		0	0	0.003080	0	0
RBM47	54502	broad.mit.edu	37	4	40440230	40440230	+	Silent	SNP	G	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:40440230G>C	uc003gvc.2	-	3	1391	c.681C>G	c.(679-681)gcC>gcG	p.A227A	RBM47_uc003gvd.2_Silent_p.A227A|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.A189A|RBM47_uc003gvg.1_Silent_p.A227A	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	227	RRM 2.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCCAGTCCACGGCGATCTGGT	0.647000														38			15		0	0	0.006122	0	0
CDC34	997	broad.mit.edu	37	19	536311	536311	+	Silent	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:536311A>G	uc002lov.3	+	2	532	c.333A>G	c.(331-333)tcA>tcG	p.S111S		NM_004359	NP_004350	P49427	UB2R1_HUMAN	Homo sapiens cell division cycle 34 homolog (S. cerevisiae) (CDC34), mRNA.	111					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGCCCTCAGAGAGGTGGA	0.642000														15			5		0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179466205	179466205	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179466205C>T	uc021vsy.1	-	235	48040	c.47815G>A	c.(47815-47817)Gga>Aga	p.G15939R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G9634R|TTN_uc021vta.1_Missense_Mutation_p.G9567R|TTN_uc021vtb.1_Missense_Mutation_p.G9442R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16866	Fibronectin type-III 16.						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)			CTGTCTCCTCCATCGTCGTCT	0.453000														117			52		0	0	0.003610	0	0
TRPM4	54795	broad.mit.edu	37	19	49671177	49671177	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:49671177C>T	uc002pmw.3	+	3	379	c.271C>T	c.(271-273)Ctc>Ttc	p.L91F	TRPM4_uc010emu.3_Missense_Mutation_p.L91F|TRPM4_uc010yak.2_Intron|TRPM4_uc002pmx.3_Intron|TRPM4_uc010emv.3_Intron|TRPM4_uc010yal.2_Intron	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	91					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TCCACAGTTCCTCCGGCTCTC	0.632000														89			53		0	0	0.003610	0	0
MUC17	140453	broad.mit.edu	37	7	100675865	100675865	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:100675865G>A	uc003uxp.1	+	2	1221	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	390	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S389T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCTTAGTGAAGGAAGCAC	0.458000														162			123		0	0	0.003610	0	0
FAT3	120114	broad.mit.edu	37	11	92257829	92257829	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:92257829C>T	uc001pdj.4	+	1	3339	c.3322C>T	c.(3322-3324)Cgg>Tgg	p.R1108W		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1108	Cadherin 10.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CATTCTTGATCGGGAGACAAT	0.438000										TCGA Ovarian(4;0.039)				241			126		0	0	0.003610	0	0
SUN2	25777	broad.mit.edu	37	22	39138308	39138308	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:39138308G>A	uc011anz.2	-	9	1222	c.1171C>T	c.(1171-1173)Cag>Tag	p.Q391*	SUN2_uc011aoa.2_Nonsense_Mutation_p.Q345*|SUN2_uc003awh.2_Nonsense_Mutation_p.Q356*|SUN2_uc010gxq.2_Nonsense_Mutation_p.Q377*|SUN2_uc003awi.2_Nonsense_Mutation_p.Q356*|SUN2_uc010gxr.2_Nonsense_Mutation_p.Q356*	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 2 (SUN2), transcript variant 2, mRNA.	356					centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|endosome membrane|integral to membrane|nuclear inner membrane	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						CCTCCTACCTGGATGCGAGCA	0.602000														37			14		0	0	0.003163	0	0
TMEM111	55831	broad.mit.edu	37	3	10012301	10012301	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:10012301C>T	uc003buo.3	-	5	716	c.539G>A	c.(538-540)cGg>cAg	p.R180Q	CIDEC_uc003bto.3_Intron|TMEM111_uc003bun.3_Missense_Mutation_p.R180Q	NM_018447	NP_060917	Q9P0I2	TM111_HUMAN	Homo sapiens transmembrane protein 111 (TMEM111), mRNA.	180						integral to membrane		p.R180P(2)		kidney(4)|large_intestine(3)|lung(3)|stomach(1)|urinary_tract(1)	12						GTAAATGCTCCGAAGCCCAAA	0.403000														89			27		0	0	0.009535	0	0
C8A	731	broad.mit.edu	37	1	57378188	57378188	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:57378188G>A	uc001cyo.2	+	9	1625	c.1493G>A	c.(1492-1494)cGa>cAa	p.R498Q		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	498	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		p.R498Q(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AATGCCTGCCGATGTGGGCCT	0.632000														102			45		0	0	0.003610	0	0
VPS8	23355	broad.mit.edu	37	3	184689489	184689489	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:184689489C>T	uc021xik.1	+	38	3457	c.3369C>T	c.(3367-3369)acC>acT	p.T1123T	VPS8_uc003fpb.1_Silent_p.T1121T|VPS8_uc010hyd.1_Silent_p.T1031T|VPS8_uc010hye.1_Silent_p.T550T	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	1123							zinc ion binding	p.E1122*(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TGGTGGAGACCATTGCTCTTT	0.383000														21			11		0	0	0.002450	0	0
OR2C1	4993	broad.mit.edu	37	16	3406744	3406744	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:3406744G>A	uc002cuw.1	+	0	856	c.804G>A	c.(802-804)caG>caA	p.Q268Q		NM_012368	NP_036500	O95371	OR2C1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						ACAGCAAACAGGACCAGGGCA	0.537000														29			27		0	0	0.009535	0	0
ANKRD45	339416	broad.mit.edu	37	1	173628349	173628349	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:173628349A>T	uc001gja.1	-	1	270	c.209T>A	c.(208-210)cTc>cAc	p.L70H	ANKRD45_uc001gjb.4_Missense_Mutation_p.L70H	NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	86										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TTCTTCTAAGAGAAGCTGCAT	0.453000														55			15		0	0	0.002450	0	0
UNK	85451	broad.mit.edu	37	17	73818612	73818612	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:73818612C>T	uc002jpm.3	+	14	2120	c.2120C>T	c.(2119-2121)tCc>tTc	p.S707F	UNK_uc021udd.1_Missense_Mutation_p.S631F	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	Homo sapiens unkempt homolog (Drosophila) (UNK), transcript variant 1, mRNA.	631							nucleic acid binding|zinc ion binding	p.S631C(1)|p.S707C(1)		cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGAAGCTTCTCCCCGGGCACT	0.617000														97			18		0	0	0.010504	0	0
HTR1F	3355	broad.mit.edu	37	3	88040349	88040349	+	Silent	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:88040349A>T	uc003dqr.2	+	1	608	c.450A>T	c.(448-450)atA>atT	p.I150I	HTR1F_uc021xbd.1_Silent_p.I150I	NM_000866	NP_000857	P30939	5HT1F_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1F (HTR1F), mRNA.	150					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TTTGGATTATATCTGTTTTTA	0.418000														26			10		0	0	0.008291	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26031889	26031889	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:26031889C>T	uc003nfs.1	-	0	400	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K		NM_003537	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3b (HIST1H3B), mRNA.	134					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TACGCTCTTTCTCCGCGAATG	0.458000														48			26		0	0	0.005443	0	0
TIAM1	7074	broad.mit.edu	37	21	32567601	32567601	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:32567601G>A	uc002yow.1	-	13	2986	c.2514C>T	c.(2512-2514)atC>atT	p.I838I	TIAM1_uc011adk.1_Silent_p.I838I|TIAM1_uc011adl.1_Silent_p.I778I	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	838					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTTTTGGACAGATTTCAATTT	0.303000														31			12		0	0	0.001855	0	0
CYP4A11	1579	broad.mit.edu	37	1	47395896	47395896	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:47395896G>A	uc001cqp.4	-	11	1502	c.1451C>T	c.(1450-1452)cCc>cTc	p.P484L		NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	484					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	p.P484P(1)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GATCCTGGTGGGATCAGGCAG	0.562000														58			42		0	0	0.009718	0	0
DYSF	8291	broad.mit.edu	37	2	71827912	71827912	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:71827912G>A	uc010fen.3	+	33	3978	c.3837G>A	c.(3835-3837)acG>acA	p.T1279T	DYSF_uc010fei.3_Silent_p.T1278T|DYSF_uc010feh.3_Silent_p.T1247T|DYSF_uc002sig.4_Silent_p.T1247T|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.T1292T|DYSF_uc010fee.3_Silent_p.T1261T|DYSF_uc010fef.3_Silent_p.T1278T|DYSF_uc002sie.3_Silent_p.T1261T|DYSF_uc010feo.3_Silent_p.T1293T|DYSF_uc010fej.3_Silent_p.T1248T|DYSF_uc010fel.3_Silent_p.T1248T|DYSF_uc010fem.3_Silent_p.T1262T|DYSF_uc002sif.3_Silent_p.T1262T|DYSF_uc010fek.3_Silent_p.T1279T|DYSF_uc010yqy.2_Silent_p.T142T|DYSF_uc010yqz.2_5'Flank	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1261						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TCCCACTGACGAGGGGCAGCC	0.602000														100			44		0	0	0.003214	0	0
KIAA1377	57562	broad.mit.edu	37	11	101857743	101857743	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:101857743C>T	uc001pgm.3	+	8	3485	c.3215C>T	c.(3214-3216)tCc>tTc	p.S1072F	KIAA1377_uc001pgn.3_Missense_Mutation_p.S1028F|KIAA1377_uc010run.2_Missense_Mutation_p.S873F	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	1072							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ATCCTAGAGTCCCTTAATGAT	0.303000														33			6		0	0	0.003080	0	0
DNAH5	1767	broad.mit.edu	37	5	13923478	13923478	+	Missense_Mutation	SNP	C	T	T	rs116128702	by1000genomes	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:13923478C>T	uc003jfd.2	-	3	391	c.349G>A	c.(349-351)Gag>Aag	p.E117K	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	117	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCGTTTCCCTCGGTCACGAAC	0.448000									Kartagener syndrome					87			60		0	0	0.003610	0	0
EMID1	129080	broad.mit.edu	37	22	29622514	29622514	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:29622514G>A	uc003aem.3	+	4	514	c.439G>A	c.(439-441)Gag>Aag	p.E147K	EMID1_uc003aen.3_Missense_Mutation_p.E145K	NM_133455	NP_597712	Q96A84	EMID1_HUMAN	Homo sapiens EMI domain containing 1 (EMID1), mRNA.	145						collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						AGAGCTGACAGAGCGGCTGAA	0.637000														36			11		0	0	0.008291	0	0
ATP9A	10079	broad.mit.edu	37	20	50286538	50286538	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:50286538G>A	uc002xwg.1	-	12	1291	c.1291C>T	c.(1291-1293)Cag>Tag	p.Q431*	ATP9A_uc010gih.1_Nonsense_Mutation_p.Q295*|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	431					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GGCTTTACCTGGGTGTAAATG	0.403000														78			43		0	0	0.003610	0	0
C9orf84	158401	broad.mit.edu	37	9	114462261	114462261	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:114462261C>T	uc004bfr.3	-	21	3099	c.2964G>A	c.(2962-2964)ggG>ggA	p.G988G	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Silent_p.G949G|C9orf84_uc010mug.3_Silent_p.G899G	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	988										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CAGAGTTTAGCCCAAATGAAA	0.308000														53			27		0	0	0.009535	0	0
FCRL5	83416	broad.mit.edu	37	1	157490868	157490868	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:157490868G>A	uc009wsm.3	-	10	2612	c.2454C>T	c.(2452-2454)tcC>tcT	p.S818S	FCRL5_uc001fqu.3_Silent_p.S818S	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	818	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CGGCCTCACAGGAGTAGTTTC	0.542000														70			15		0	0	0.004007	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764688	92764688	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:92764688G>A	uc003umh.1	-	4	1813	c.597C>T	c.(595-597)ttC>ttT	p.F199F	SAMD9L_uc003umj.1_Silent_p.F199F|SAMD9L_uc003umi.1_Silent_p.F199F|SAMD9L_uc010lfb.1_Silent_p.F199F|SAMD9L_uc003umk.1_Silent_p.F199F|SAMD9L_uc010lfc.1_Silent_p.F199F|SAMD9L_uc010lfd.1_Silent_p.F199F|SAMD9L_uc022ahh.1_Silent_p.F199F	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	199										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGAGAGCTTTGAACTCATGTA	0.403000														90			71		0	0	0.003610	0	0
SCN10A	6336	broad.mit.edu	37	3	38835385	38835385	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:38835385C>T	uc003ciq.3	-	0	117	c.117G>A	c.(115-117)gaG>gaA	p.E39E		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	39					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCCTATGCTTCTCTCTGGCTT	0.532000														88			37		0	0	0.004878	0	0
CNTN5	53942	broad.mit.edu	37	11	100126511	100126511	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:100126511G>A	uc001pga.3	+	16	2529	c.2025G>A	c.(2023-2025)ggG>ggA	p.G675G	CNTN5_uc001pfz.3_Silent_p.G675G|CNTN5_uc021qpb.1_Silent_p.G675G|CNTN5_uc021qpc.1_Silent_p.G601G|CNTN5_uc010ruk.2_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	675	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GCCCACCTGGGATAGTAATTG	0.458000														43			16		0	0	0.006122	0	0
UGT2B7	7364	broad.mit.edu	37	4	69964396	69964396	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:69964396C>T	uc003heg.4	+	1	906	c.860C>T	c.(859-861)cCc>cTc	p.P287L	UGT2B7_uc010ihq.3_Missense_Mutation_p.P287L	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	287					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						CCTGCCAAACCCCTGCCTAAG	0.373000														134			18		0	0	0.008871	0	0
SPATA12	353324	broad.mit.edu	37	3	57107844	57107844	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:57107844C>G	uc003dij.1	+	1	797	c.122C>G	c.(121-123)aCc>aGc	p.T41S	ARHGEF3_uc003dih.2_Intron|SPATA12_uc021wzr.1_Missense_Mutation_p.T41S	NM_181727	NP_859078	Q7Z6I5	SPT12_HUMAN	Homo sapiens spermatogenesis associated 12 (SPATA12), mRNA.	41										large_intestine(2)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)		GGGTCATCCACCCAACATCCC	0.577000														50			24		0	0	0.003330	0	0
CHD8	57680	broad.mit.edu	37	14	21868700	21868700	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:21868700G>A	uc001war.2	-	21	4507	c.4442C>T	c.(4441-4443)aCc>aTc	p.T1481I	CHD8_uc001was.2_Missense_Mutation_p.T1202I|CHD8_uc001wav.1_Missense_Mutation_p.T644I	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1481					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding	p.E1480Q(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCGACAAATGGTCTCCACATC	0.428000														21			7		0	0	0.003080	0	0
HNRNPU	3192	broad.mit.edu	37	1	245021405	245021405	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:245021405G>A	uc001iaz.1	-	6	1620	c.1402C>T	c.(1402-1404)Cca>Tca	p.P468S	HNRNPU_uc001iay.1_Missense_Mutation_p.P192S|HNRNPU_uc001iba.1_Missense_Mutation_p.P449S	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) (HNRNPU), transcript variant 1, mRNA.	468					CRD-mediated mRNA stabilization	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|cell surface|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|RNA binding|protein binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TCAGGTATTGGAAAATATGGC	0.448000														23			7		0	0	0.001984	0	0
abParts	0	broad.mit.edu	37	14	107218782	107218782	+	RNA	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:107218782G>A	uc021ser.1	-	12		c.981C>T								Parts of antibodies, mostly variable regions.																		GCCCTTCACGGAGTCCGCGTA	0.542000														118			53		0	0	0.003610	0	0
MFSD12	126321	broad.mit.edu	37	19	3547919	3547919	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:3547919G>A	uc002lxw.3	-	3	934	c.764C>T	c.(763-765)cCc>cTc	p.P255L	MFSD12_uc002lxx.3_Missense_Mutation_p.P255L|MFSD12_uc002lxy.3_Missense_Mutation_p.P246L|MFSD12_uc002lxz.3_Missense_Mutation_p.P255L	NM_021731	NP_068377	Q6NUT3	CS028_HUMAN	Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA.	255					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						GGCCAACAGGGGGGTGTGCTC	0.716000														4			8		0	0	0.004482	0	0
ITGB4	3691	broad.mit.edu	37	17	73728296	73728296	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:73728296G>A	uc002jpg.3	+	11	1617	c.1430G>A	c.(1429-1431)gGa>gAa	p.G477E	ITGB4_uc002jph.3_Missense_Mutation_p.G477E|ITGB4_uc010dgo.3_Missense_Mutation_p.G477E|ITGB4_uc002jpi.4_Missense_Mutation_p.G477E|ITGB4_uc010dgp.1_Missense_Mutation_p.G477E|ITGB4_uc002jpj.3_Missense_Mutation_p.G477E|ITGB4_uc010wsh.1_Missense_Mutation_p.G32E	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	477	Cysteine-rich tandem repeats.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTCGTGTGCGGACAGTGTGTG	0.642000														36			19		0	0	0.010504	0	0
NDST1	3340	broad.mit.edu	37	5	149901077	149901077	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:149901077C>T	uc003lsk.4	+	1	763	c.261C>T	c.(259-261)gtC>gtT	p.V87V	NDST1_uc011dcj.2_Silent_p.V87V|NDST1_uc003lsl.3_Silent_p.V87V	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	87	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGTGCTGGTCTTTGTGGAGA	0.662000														72			26		0	0	0.004656	0	0
NPY5R	4889	broad.mit.edu	37	4	164271582	164271582	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:164271582C>T	uc003iqn.3	+	3	339	c.157C>T	c.(157-159)Ctt>Ttt	p.L53F	NPY5R_uc021xtw.1_Missense_Mutation_p.L53F	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	53					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ATTTGTAAGTCTTCTTGGCTT	0.398000														42			42		0	0	0.006999	0	0
DSCAM	1826	broad.mit.edu	37	21	41414561	41414561	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:41414561G>A	uc002yyq.1	-	31	5875	c.5423C>T	c.(5422-5424)tCc>tTc	p.S1808F	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1808					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTAAGTGGAGGAGGCACTTTC	0.522000														37			19		0	0	0.008871	0	0
HDAC9	9734	broad.mit.edu	37	7	18633644	18633644	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:18633644G>A	uc003sui.3	+	4	697	c.656G>A	c.(655-657)cGa>cAa	p.R219Q	HDAC9_uc003sue.3_Missense_Mutation_p.R216Q|HDAC9_uc011jyd.2_Missense_Mutation_p.R216Q|HDAC9_uc003suh.3_Missense_Mutation_p.R216Q|HDAC9_uc003suj.3_Missense_Mutation_p.R219Q|HDAC9_uc011jya.2_Missense_Mutation_p.R258Q|HDAC9_uc003sua.1_Missense_Mutation_p.R238Q|HDAC9_uc003sud.2_Missense_Mutation_p.R216Q|HDAC9_uc011jyc.2_Missense_Mutation_p.R219Q|HDAC9_uc011jyb.2_Missense_Mutation_p.R216Q|HDAC9_uc003suf.2_Missense_Mutation_p.R247Q|HDAC9_uc010kud.2_Missense_Mutation_p.R219Q|HDAC9_uc011jye.2_Missense_Mutation_p.R188Q|HDAC9_uc011jyf.2_Missense_Mutation_p.R183Q|HDAC9_uc010kue.1_5'UTR	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	216	Interaction with ETV6.|Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TTCCCCCTTCGAAAAACTGGT	0.418000														48			28		0	0	0.005443	0	0
MTF1	4520	broad.mit.edu	37	1	38281117	38281117	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:38281117C>T	uc001cce.1	-	10	2094	c.1953G>A	c.(1951-1953)aaG>aaA	p.K651K		NM_005955	NP_005946	Q14872	MTF1_HUMAN	Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.	651						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGGAGCAGCCCTTTCTCCTGC	0.617000														41			15		0	0	0.002450	0	0
WNT11	7481	broad.mit.edu	37	11	75902750	75902750	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:75902750G>A	uc001oxe.3	-	3	871	c.748C>T	c.(748-750)Cga>Tga	p.R250*	WNT11_uc001oxf.1_Nonsense_Mutation_p.R250*	NM_004626	NP_004617	O96014	WNT11_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 11 (WNT11), mRNA.	250					Wnt receptor signaling pathway, calcium modulating pathway|adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|Ras GTPase activator activity|protein kinase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						CCCATGGGTCGGTGCACTACC	0.617000														73			49		0	0	0.003610	0	0
RNLS	55328	broad.mit.edu	37	10	90074264	90074264	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:90074264G>A	uc001kfe.3	-	5	970	c.835C>T	c.(835-837)Cag>Tag	p.Q279*	RNLS_uc010qms.1_Nonsense_Mutation_p.Q196*|RNLS_uc001kfd.2_Nonsense_Mutation_p.Q279*|RNLS_uc009xtj.3_Nonsense_Mutation_p.Q111*	NM_001031709	NP_001026879	Q5VYX0	RNLS_HUMAN	Homo sapiens renalase, FAD-dependent amine oxidase (RNLS), transcript variant 1, mRNA.	279						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						GCAATTGGCTGAGGCAAACCC	0.438000														32			34		0	0	0.005524	0	0
PARD3B	117583	broad.mit.edu	37	2	206265765	206265765	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:206265765G>A	uc002var.2	+	18	2866	c.2659G>A	c.(2659-2661)Gga>Aga	p.G887R	PARD3B_uc002vao.2_Missense_Mutation_p.G887R|PARD3B_uc002vap.2_Missense_Mutation_p.G825R|PARD3B_uc002vaq.2_Missense_Mutation_p.G818R	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	887	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GGATAAGGGTGGAAAGGCTGA	0.428000														17			7		0	0	0.003080	0	0
CRISP3	10321	broad.mit.edu	37	6	49703226	49703226	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:49703226G>A	uc021zai.1	-	3	425	c.337C>T	c.(337-339)Cga>Tga	p.R113*	CRISP3_uc003ozs.3_Nonsense_Mutation_p.R103*	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.	90					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTTGTCATTCGATCCTTTGGG	0.333000														120			33		0	0	0.002836	0	0
PDHA2	5161	broad.mit.edu	37	4	96761622	96761623	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:96761622_96761623CC>TT	uc003htr.4	+	0	384_385	c.321_322CC>TT	c.(319-324)aacccc>aaTTcc	p.P108S		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	108					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CCGGCATAAACCCCTCGGATCA	0.525000														89			19		0	0	0.004672	0	0
ERBB4	2066	broad.mit.edu	37	2	212495276	212495276	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:212495276G>A	uc002veg.1	-	16	2088	c.1990C>T	c.(1990-1992)Ctg>Ttg	p.L664L	ERBB4_uc002veh.1_Silent_p.L664L|ERBB4_uc010zji.1_Silent_p.L654L|ERBB4_uc010zjj.1_Silent_p.L654L|ERBB4_uc010fut.1_Silent_p.L664L	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	664					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACAATGACCAGAATGAAGAGC	0.393000										TSP Lung(8;0.080)				71			41		0	0	0.003214	0	0
BC067347	0	broad.mit.edu	37	17	20747245	20747245	+	RNA	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:20747245C>T	uc010crb.2	+	1		c.633C>T								Homo sapiens cDNA clone IMAGE:6269068, partial cds.																		CGACGCCTTCCCTAAGTGAGC	0.746000														13			4		0	0	0.009096	0	0
OR4A5	81318	broad.mit.edu	37	11	51411590	51411590	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:51411590G>A	uc001nhi.2	-	0	859	c.806C>T	c.(805-807)aCt>aTt	p.T269I		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ATAAAACACAGTCATGAACTT	0.363000														23			9		0	0	0.008291	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151121952	151121952	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:151121952T>C	uc011eem.1	+	5	992	c.904T>C	c.(904-906)Tcc>Ccc	p.S302P	PLEKHG1_uc011eel.1_Missense_Mutation_p.S283P|PLEKHG1_uc003qny.1_Missense_Mutation_p.S243P|PLEKHG1_uc003qnz.2_Missense_Mutation_p.S243P	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	243					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GCCTCTGGGGTCCTATCTCTT	0.498000														63			34		0	0	0.004289	0	0
WNT8A	7478	broad.mit.edu	37	5	137423581	137423581	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:137423581G>A	uc011cyk.1	+	2	618	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	WNT8A_uc011cyj.1_Missense_Mutation_p.E128K|WNT8A_uc003lcd.1_Missense_Mutation_p.E110K			Q9H1J5	WNT8A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 8A (WNT8A), mRNA.	110					Wnt receptor signaling pathway, calcium modulating pathway|brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGGTGACTTCGAAAACTGTGG	0.483000														105			47		0	0	0.003214	0	0
HIST1H1E	3008	broad.mit.edu	37	6	26156975	26156975	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:26156975G>A	uc003ngq.3	+	0	417	c.357G>A	c.(355-357)aaG>aaA	p.K119K	HIST1H2BD_uc003ngr.3_5'Flank|HIST1H2BD_uc003ngs.3_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	Homo sapiens histone cluster 1, H1e (HIST1H1E), mRNA.	119					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CCAAGCCTAAGGCTAAAAAGG	0.647000														25			10		0	0	0.008291	0	0
WNT5A	7474	broad.mit.edu	37	3	55508524	55508524	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:55508524C>T	uc003dhn.3	-	3	843	c.525G>A	c.(523-525)cgG>cgA	p.R175R	WNT5A_uc003dhm.3_Silent_p.R160R|WNT5A_uc010hmw.3_Silent_p.R160R|WNT5A_uc010hmx.3_Silent_p.R86R	NM_003392	NP_003383	P41221	WNT5A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5A (WNT5A), transcript variant 1, mRNA.	175					Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of BMP signaling pathway|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell chemotaxis|positive regulation of angiogenesis|positive regulation of cGMP metabolic process|positive regulation of cartilage development|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		AGAGCCAGTCCCGCGGCAGGT	0.726000														5			4		0	0	0.000602	0	0
CRLF1	9244	broad.mit.edu	37	19	18710608	18710608	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:18710608G>A	uc010ebt.2	-	1	358	c.164C>T	c.(163-165)tCc>tTc	p.S55F		NM_004750	NP_004741	O75462	CRLF1_HUMAN	Homo sapiens cytokine receptor-like factor 1 (CRLF1), mRNA.	55	Ig-like C2-type.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GGCCAGCAGGGAGGAGCCGAT	0.677000														13			10		0	0	0.006214	0	0
BDKRB2	624	broad.mit.edu	37	14	96703494	96703494	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:96703494C>T	uc010avm.1	+	1	246	c.50C>T	c.(49-51)tCc>tTc	p.S17F	BDKRB2_uc010avl.2_Missense_Mutation_p.P77S|BDKRB2_uc010twu.1_5'UTR|BDKRB2_uc001yfg.2_Missense_Mutation_p.S17F	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	17					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		CGTGAGGACTCCGTGCCCACC	0.532000														62			39		0	0	0.009718	0	0
AGTR2	186	broad.mit.edu	37	X	115304175	115304175	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:115304175G>A	uc022cdd.1	+	0	642	c.642G>A	c.(640-642)atG>atA	p.M214I	AGTR2_uc004eqh.4_Missense_Mutation_p.M214I	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	214					G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TTGCCTTAATGAAAAATATCC	0.373000														11			30		0	0	0.007291	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18691147	18691147	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:18691147G>A	uc001rdt.3	+	23	3374	c.3258G>A	c.(3256-3258)ggG>ggA	p.G1086G	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.G1127G|PIK3C2G_uc010sic.2_Silent_p.G905G	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1086	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CAGAGGGTGGGAAAAACCCAC	0.398000														57			22		0	0	0.002299	0	0
XKR5	389610	broad.mit.edu	37	8	6682705	6682706	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:6682705_6682706AG>GA	uc022aqv.1	-	2	559_560	c.408_409CT>TC	c.(406-411)gacttc>gaTCtc	p.F137L	XKR5_uc003wqq.3_5'UTR	NM_207411	NP_997294	Q6UX68	XKR5_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 5 (XKR5), mRNA.	137						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		ATATCTGTGAAGTCTGAGGCTA	0.559000														42			18		0	0	0.004672	0	0
DUSP22	56940	broad.mit.edu	37	6	348244	348244	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:348244C>T	uc003msx.3	+	5	844	c.405C>T	c.(403-405)ctC>ctT	p.L135L	DUSP22_uc011dhn.1_Silent_p.L135L|DUSP22_uc003msy.1_Silent_p.L92L	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA.	135					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		AGAGACAGCTCCAGGAGTTTG	0.572000														80			18		0	0	0.007413	0	0
COX6C	1345	broad.mit.edu	37	8	100904221	100904221	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:100904221C>T	uc003yiy.2	-	1	436	c.29G>A	c.(28-30)cGg>cAg	p.R10Q		NM_004374	NP_004365	P09669	COX6C_HUMAN	Homo sapiens cytochrome c oxidase subunit VIc (COX6C), nuclear gene encoding mitochondrial protein, mRNA.	10					respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity		HMGA2/COX6C(2)	liver(1)|lung(2)	3			all cancers(13;8.32e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GCCACGCATCCGAGGTTTTGG	0.433000			T	HMGA2	uterine leiomyoma									102			45		0	0	0.008740	0	0
TNR	7143	broad.mit.edu	37	1	175299289	175299289	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:175299289G>A	uc001gkp.1	-	18	3795	c.3714C>T	c.(3712-3714)ttC>ttT	p.F1238F	TNR_uc009wwu.1_Silent_p.F1238F	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	1238	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CGTAGGAGGCGAAGGCGGCCT	0.577000														31			16		0	0	0.004007	0	0
RUNX1T1	862	broad.mit.edu	37	8	92983071	92983071	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:92983071C>G	uc022axs.1	-	10	1718	c.1531G>C	c.(1531-1533)Gcc>Ccc	p.A511P	RUNX1T1_uc003yfc.2_Missense_Mutation_p.A425P|RUNX1T1_uc010mam.3_Missense_Mutation_p.A425P|RUNX1T1_uc003yfe.2_Missense_Mutation_p.A415P|RUNX1T1_uc003yfd.3_Missense_Mutation_p.A452P|RUNX1T1_uc022axo.1_Missense_Mutation_p.A452P|RUNX1T1_uc010mao.3_Missense_Mutation_p.A425P|RUNX1T1_uc011lgi.2_Missense_Mutation_p.A463P|RUNX1T1_uc022axp.1_Missense_Mutation_p.A452P|RUNX1T1_uc022axq.1_Missense_Mutation_p.A452P|RUNX1T1_uc022axr.1_Missense_Mutation_p.A452P|RUNX1T1_uc022axt.1_Missense_Mutation_p.A452P|RUNX1T1_uc022axu.1_Missense_Mutation_p.A432P|RUNX1T1_uc022axv.1_Missense_Mutation_p.A452P|RUNX1T1_uc010man.2_Missense_Mutation_p.A77P|RUNX1T1_uc003yfb.2_Missense_Mutation_p.A415P	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	452					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCATTGACGGCCTCCTCTGTG	0.507000														27			7		0	0	0.006214	0	0
MED13L	23389	broad.mit.edu	37	12	116429468	116429468	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:116429468G>A	uc001tvw.3	-	16	3346	c.3291C>T	c.(3289-3291)ccC>ccT	p.P1097P		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	1097					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GCATGGTGGCGGGCTCCACAG	0.522000														19			14		0	0	0.001855	0	0
SKAP1	8631	broad.mit.edu	37	17	46474085	46474085	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:46474085G>A	uc002ini.1	-	1	221	c.109C>T	c.(109-111)Cac>Tac	p.H37Y	SKAP1_uc002inj.1_Missense_Mutation_p.H37Y|SKAP1_uc010dbd.1_5'UTR|SKAP1_uc010dbe.1_Missense_Mutation_p.H37Y	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	Homo sapiens src kinase associated phosphoprotein 1 (SKAP1), transcript variant 1, mRNA.	37					T cell receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|plasma membrane	SH2 domain binding|antigen binding|protein kinase binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						TGGTCTCTGTGATCCCTTGCA	0.378000														127			109		0	0	0.003610	0	0
PLA2R1	22925	broad.mit.edu	37	2	160843670	160843670	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:160843670G>A	uc002ube.2	-	11	2246	c.2034C>T	c.(2032-2034)ttC>ttT	p.F678F	PLA2R1_uc010zcp.2_Silent_p.F678F|PLA2R1_uc002ubf.3_Silent_p.F678F	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	678	C-type lectin 4.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTATCACCTTGAAGCAACTGG	0.438000														57			28		0	0	0.008361	0	0
GPD2	2820	broad.mit.edu	37	2	157425915	157425915	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:157425915C>T	uc002tzf.4	+	10	1701	c.1341C>T	c.(1339-1341)acC>acT	p.T447T	GPD2_uc010zch.2_Silent_p.T220T|GPD2_uc002tzd.4_Silent_p.T447T|GPD2_uc002tze.1_Non-coding_Transcript	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 2 (mitochondrial) (GPD2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	447					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						CAGAAGATACCATAAATGCTG	0.388000														24			13		0	0	0.002450	0	0
SLC7A9	11136	broad.mit.edu	37	19	33324075	33324075	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:33324075C>T	uc002ntv.4	-	11	1496	c.1379G>A	c.(1378-1380)gGa>gAa	p.G460E	SLC7A9_uc002ntt.4_Non-coding_Transcript|SLC7A9_uc002ntu.4_Missense_Mutation_p.G460E|SLC7A9_uc021usa.1_Missense_Mutation_p.G460E|SLC7A9_uc002ntw.4_Missense_Mutation_p.G251E	NM_001126335	NP_055085	P82251	BAT1_HUMAN	Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA.	460					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CTGAGCCCATCCAAACTTGTA	0.507000														74			30		0	0	0.008361	0	0
MAP1LC3B2	643246	broad.mit.edu	37	12	117013751	117013751	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:117013751C>T	uc009zwk.1	+	1	158	c.4C>T	c.(4-6)Ccg>Tcg	p.P2S	MAP1LC3B2_uc021rej.1_Missense_Mutation_p.P2S	NM_001085481	NP_001078950	A6NCE7	MP3B2_HUMAN	Homo sapiens microtubule-associated protein 1 light chain 3 beta 2 (MAP1LC3B2), mRNA.	2					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule				breast(1)|large_intestine(2)|lung(3)	6						CCACACCATGCCGTCGGAGAA	0.627000														27			20		0	0	0.008871	0	0
ATG2B	55102	broad.mit.edu	37	14	96790257	96790257	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:96790257G>A	uc001yfi.3	-	15	2881	c.2516C>T	c.(2515-2517)tCg>tTg	p.S839L		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	839										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GTCATCTGACGATGTTGTATC	0.343000														39			17		0	0	0.010504	0	0
SCN11A	11280	broad.mit.edu	37	3	38888526	38888526	+	Missense_Mutation	SNP	G	A	A	rs143537709		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:38888526G>A	uc021wvy.1	-	25	5234	c.5035C>T	c.(5035-5037)Cgc>Tgc	p.R1679C		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1679					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1679C(2)|p.R1679H(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAGTGGAGGCGATCTTCACTC	0.463000														57			23		0	0	0.001882	0	0
BMP10	27302	broad.mit.edu	37	2	69093461	69093461	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:69093461C>T	uc002sez.1	-	1	736	c.577G>A	c.(577-579)Gga>Aga	p.G193R		NM_014482	NP_055297	O95393	BMP10_HUMAN	Homo sapiens bone morphogenetic protein 10 (BMP10), mRNA.	193					BMP signaling pathway|Notch signaling pathway|activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	Z disc|cell surface|extracellular space	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CTGTTGGTTCCATATATCTCC	0.483000														61			15		0	0	0.003163	0	0
LPAR4	2846	broad.mit.edu	37	X	78010978	78010978	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:78010978C>T	uc022bzj.1	+	0	612	c.612C>T	c.(610-612)atC>atT	p.I204I	LPAR4_uc010nme.3_Silent_p.I204I	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	204						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TATCCAAGATCACAATATTTA	0.408000														10			19		0	0	0.008871	0	0
NBEA	26960	broad.mit.edu	37	13	35733271	35733271	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:35733271C>T	uc021rid.1	+	21	3497	c.2963C>T	c.(2962-2964)tCa>tTa	p.S988L	NBEA_uc021ric.1_Missense_Mutation_p.S988L|NBEA_uc010abi.3_5'Flank	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	988						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TCTGGTCTTTCATCACAGACA	0.423000														33			27		0	0	0.002836	0	0
POLR2F	5435	broad.mit.edu	37	22	38355370	38355370	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:38355370C>T	uc003aul.3	+	2	229	c.108C>T	c.(106-108)gtC>gtT	p.V36V	POLR2F_uc010gxi.3_Nonsense_Mutation_p.R30*|AK098727_uc003aum.3_Non-coding_Transcript	NM_021974	NP_068809	P61218	RPAB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide F (POLR2F), mRNA.	36					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					AGGAGAATGTCGAGATCCTCC	0.547000														169			92		0	0	0.003610	0	0
SYNE2	23224	broad.mit.edu	37	14	64690033	64690033	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:64690033G>A	uc001xgl.3	+	112	20547	c.20317G>A	c.(20317-20319)Gag>Aag	p.E6773K	SYNE2_uc001xgm.3_Missense_Mutation_p.E6750K|SYNE2_uc010apy.3_Missense_Mutation_p.E3135K|SYNE2_uc001xgn.3_Missense_Mutation_p.E1712K|SYNE2_uc021rui.1_Missense_Mutation_p.E1711K|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Missense_Mutation_p.E720K|SYNE2_uc001xgq.3_Missense_Mutation_p.E1129K|SYNE2_uc001xgr.3_Missense_Mutation_p.E533K|SYNE2_uc010tsi.2_Missense_Mutation_p.E407K|SYNE2_uc001xgs.3_Missense_Mutation_p.E421K|SYNE2_uc001xgt.3_Missense_Mutation_p.E295K	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	6750					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCATGTTATTGAGAAGAAACT	0.418000														29			11		0	0	0.001368	0	0
CD177	57126	broad.mit.edu	37	19	43866377	43866377	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:43866377G>A	uc002owi.3	+	9	1258	c.1216G>A	c.(1216-1218)Gga>Aga	p.G406R	CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	407					blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				TCAGCATGAGGGAGGTGGGGC	0.612000														41			18		0	0	0.010504	0	0
INPPL1	3636	broad.mit.edu	37	11	71945395	71945395	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:71945395C>T	uc001osf.3	+	19	2430	c.2283C>T	c.(2281-2283)agC>agT	p.S761S	INPPL1_uc001osg.3_Silent_p.S519S	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	761					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGACAGCCAGCCGCACCAAGT	0.567000														46			11		0	0	0.001368	0	0
HPS1	3257	broad.mit.edu	37	10	100183371	100183371	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:100183371G>A	uc021pwv.1	-	15	1833	c.1587C>T	c.(1585-1587)atC>atT	p.I529I	HPS1_uc010qpg.2_Silent_p.I149I|HPS1_uc009xwb.3_Non-coding_Transcript	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 1 (HPS1), transcript variant 1, mRNA.	529					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		ACACCATGGTGATGTTCCTCC	0.617000									Hermansky-Pudlak syndrome					90			91		0	0	0.003610	0	0
CADM3	57863	broad.mit.edu	37	1	159166838	159166838	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:159166838C>T	uc001ftl.2	+	6	1119	c.940C>T	c.(940-942)Ctc>Ttc	p.L314F	CADM3_uc009wsy.1_Missense_Mutation_p.L268F|CADM3_uc001ftk.2_Missense_Mutation_p.L348F|LOC100131825_uc001ftm.2_Non-coding_Transcript	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	314	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.Q314P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CTACTACACCCTCAATGTTAA	0.493000														38			4		0	0	0.001168	0	0
MSI1	4440	broad.mit.edu	37	12	120784047	120784047	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:120784047G>A	uc001tye.1	-	12	1002	c.938C>T	c.(937-939)cCc>cTc	p.P313L		NM_002442	NP_002433	O43347	MSI1H_HUMAN	Homo sapiens musashi homolog 1 (Drosophila) (MSI1), mRNA.	313					nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CATGGGGCCGGGGCTGGTGGT	0.701000														10			3		0	0	0.004672	0	0
RBM23	55147	broad.mit.edu	37	14	23380554	23380554	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:23380554G>A	uc001whg.3	-	1	248	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	RBM23_uc001whh.3_Missense_Mutation_p.P17S|RBM23_uc001whi.3_Missense_Mutation_p.P17S|RBM23_uc010tne.2_5'UTR|RBM23_uc001whj.3_Intron|RBM23_uc001whk.1_Missense_Mutation_p.P17S	NM_001077351	NP_001070819	Q86U06	RBM23_HUMAN	Homo sapiens RNA binding motif protein 23 (RBM23), transcript variant 1, mRNA.	17					mRNA processing	nucleus	RNA binding|nucleotide binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		TTTTTATAGGGAGCTTCCAGC	0.368000														131			52		0	0	0.003610	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18721637	18721637	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:18721637C>T	uc003zne.4	+	14	2132	c.1980C>T	c.(1978-1980)tcC>tcT	p.S660S		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	660	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCCTGAAGTCCTGCAATTTGG	0.607000														27			22		0	0	0.001882	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635250	122635250	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:122635250C>T	uc003vkl.1	-	0	505	c.439G>A	c.(439-441)Ggg>Agg	p.G147R		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	Homo sapiens taste receptor, type 2, member 16 (TAS2R16), mRNA.	147					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATGTAATTCCCAATAGCTGAA	0.398000														65			19		0	0	0.006122	0	0
RIMS3	9783	broad.mit.edu	37	1	41092339	41092339	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:41092339G>A	uc001cfu.1	-	7	1242	c.777C>T	c.(775-777)atC>atT	p.I259I	RIMS3_uc001cfv.1_Silent_p.I259I	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 3 (RIMS3), mRNA.	259					neurotransmitter transport	cell junction|synapse				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			CGTCCAGCATGATCTGGGCCA	0.627000														25			15		0	0	0.007413	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616716	77616716	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:77616716C>T	uc003yau.2	+	1	780	c.393C>T	c.(391-393)atC>atT	p.I131I	ZFHX4_uc003yat.1_Silent_p.I131I|ZFHX4_uc003yaw.1_Silent_p.I131I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	131						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I131I(4)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGGGGAGATCGTTTACCAGC	0.493000										HNSCC(33;0.089)				46			32		0	0	0.008361	0	0
KIAA1429	25962	broad.mit.edu	37	8	95550487	95550487	+	Splice_Site	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:95550487C>T	uc003ygo.2	-	3	337	c.266_splice	c.e3+1	p.S89_splice	KIAA1429_uc003ygp.3_Splice_Site_p.S89_splice	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	89					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CAGGTACATACCTTCCCAACC	0.378000														80			27		0	0	0.002096	0	0
SLC38A10	124565	broad.mit.edu	37	17	79220107	79220107	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:79220107G>A	uc002jzz.1	-	15	2984	c.2609C>T	c.(2608-2610)cCa>cTa	p.P870L	SLC38A10_uc002jzy.1_Missense_Mutation_p.P788L|SLC38A10_uc021uey.1_5'UTR	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	870					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCGCTCCTCTGGGCCCCCGGC	0.667000														61			41		0	0	0.002852	0	0
RYR2	6262	broad.mit.edu	37	1	237947684	237947684	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:237947684G>A	uc001hyl.1	+	89	12792	c.12672G>A	c.(12670-12672)gaG>gaA	p.E4224E	RYR2_uc010pya.2_Silent_p.E639E	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4224					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.P4224P(1)|p.P4224L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCGAGAAGGAGAGGCCGGAAG	0.542000														23			10		0	0	0.006214	0	0
DCUN1D1	54165	broad.mit.edu	37	3	182683508	182683508	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:182683508G>A	uc003fld.1	-	1	86	c.37C>T	c.(37-39)Cgt>Tgt	p.R13C		NM_020640	NP_065691	Q96GG9	DCNL1_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae) (DCUN1D1), mRNA.	13	UBA-like.					ubiquitin ligase complex	protein binding	p.R13C(2)|p.R13H(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ATAAACTGACGAACTTTATCC	0.308000														51			23		0	0	0.002299	0	0
RLF	6018	broad.mit.edu	37	1	40705671	40705671	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:40705671C>T	uc001cfc.4	+	7	5328	c.5297C>T	c.(5296-5298)cCt>cTt	p.P1766L	RLF_uc001cfd.4_Missense_Mutation_p.P1457L	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	1766					DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	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;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ACTTACAAACCTATGGGATTT	0.363000														35			21		0	0	0.010504	0	0
SON	6651	broad.mit.edu	37	21	34927501	34927501	+	Silent	SNP	T	C	C	rs139304331		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:34927501T>C	uc002yse.1	+	2	6013	c.5964T>C	c.(5962-5964)ccT>ccC	p.P1988P	SON_uc002ysb.1_Silent_p.P1988P|SON_uc002ysc.3_Silent_p.P1988P|SON_uc002ysd.3_Silent_p.P979P|SON_uc002ysf.1_Intron|SON_uc002ysg.3_Silent_p.P979P	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	1988	2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.|7 X 7 AA repeats of P-S-R-R-S-R-[TS].				RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						gccgcacccctagccgtcgga	0.697000														34			20		0	0	0.002299	0	0
RGS12	6002	broad.mit.edu	37	4	3319336	3319336	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:3319336C>T	uc003ggw.3	+	1	2343	c.1439C>T	c.(1438-1440)cCc>cTc	p.P480L	RGS12_uc003ggu.2_Missense_Mutation_p.P480L|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Missense_Mutation_p.P480L|RGS12_uc003ggx.1_Missense_Mutation_p.P480L	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	480						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTCCGGACCCCGAAGGGAGC	0.682000														43			18		0	0	0.006122	0	0
E2F3	1871	broad.mit.edu	37	6	20490506	20490506	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:20490506C>T	uc003nda.2	+	6	1570	c.1243C>T	c.(1243-1245)Cct>Tct	p.P415S	E2F3_uc021ymj.1_Missense_Mutation_p.P284S	NM_001949	NP_001940	O00716	E2F3_HUMAN	Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA.	415	Transactivation (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			GGACCAAATTCCTTCCAACCT	0.522000														313			168		0	0	0.003610	0	0
C11orf41	25758	broad.mit.edu	37	11	33628245	33628245	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:33628245C>T	uc021qfs.1	+	12	4171	c.4047C>T	c.(4045-4047)gcC>gcT	p.A1349A		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	1349						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						GCAAGGTGGCCGCTGAACCCT	0.542000														32			13		0	0	0.003163	0	0
RDH12	145226	broad.mit.edu	37	14	68191872	68191872	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:68191872G>A	uc001xjz.4	+	4	568	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K		NM_152443	NP_689656	Q96NR8	RDH12_HUMAN	Homo sapiens retinol dehydrogenase 12 (all-trans/9-cis/11-cis) (RDH12), mRNA.	82					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	TGCTGCCAGTGAAATCCGAGT	0.512000														126			45		0	0	0.003610	0	0
HTR1A	3350	broad.mit.edu	37	5	63256778	63256778	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:63256778C>T	uc011cqt.2	-	0	769	c.769G>A	c.(769-771)Gag>Aag	p.E257K		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	257					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.E257G(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CTCCCCGACTCTCCATTCACA	0.652000														67			26		0	0	0.003330	0	0
AGBL4	84871	broad.mit.edu	37	1	49332876	49332876	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:49332876C>T	uc010omx.1	-	5	815	c.657G>A	c.(655-657)acG>acA	p.T219T	AGBL4_uc001cru.2_Silent_p.T207T|AGBL4_uc010omw.1_5'UTR|AGBL4_uc010omy.1_Silent_p.T60T|AGBL4_uc001crv.1_Silent_p.T60T	NM_032785	NP_116174	Q5VU57	CBPC6_HUMAN	Homo sapiens ATP/GTP binding protein-like 4 (AGBL4), mRNA.	207					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		GGCTGGTTATCGTCAGGAGGT	0.488000														30			9		0	0	0.008291	0	0
NLRP14	338323	broad.mit.edu	37	11	7065201	7065201	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:7065201C>T	uc001mfb.1	+	3	2267	c.1944C>T	c.(1942-1944)ctC>ctT	p.L648L		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	648					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AAACAAGCCTCCCAACTAACA	0.473000														58			23		0	0	0.003954	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643778	37643778	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:37643778G>A	uc002ofo.1	-	4	1254	c.1023C>T	c.(1021-1023)ctC>ctT	p.L341L	ZNF585A_uc002ofm.1_Silent_p.L286L|ZNF585A_uc002ofn.1_Silent_p.L286L	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATGTGTAACGAGGTTGGAAT	0.398000														98			35		0	0	0.003271	0	0
GPR98	84059	broad.mit.edu	37	5	89979680	89979680	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:89979680T>C	uc003kju.3	+	27	6038	c.5942T>C	c.(5941-5943)tTt>tCt	p.F1981S	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1981					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATATTCATTTTTTCTGAGAAA	0.403000														19			12		0	0	0.000978	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735856	55735856	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:55735856C>T	uc010rit.2	-	0	84	c.84G>A	c.(82-84)atG>atA	p.M28I		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					ACATCAGGATCATCAAATACA	0.333000														40			27		0	0	0.004656	0	0
LPIN1	23175	broad.mit.edu	37	2	11964794	11964794	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:11964794C>T	uc010yjm.2	+	21	2858	c.2805C>T	c.(2803-2805)ttC>ttT	p.F935F	LPIN1_uc010yjn.2_Silent_p.F850F|LPIN1_uc002rbt.3_Silent_p.F850F|LPIN1_uc010yjo.2_Silent_p.F351F	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	850					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		ACCACGTTTTCCCGTTGCTGA	0.502000														39			38		0	0	0.006230	0	0
CASC1	55259	broad.mit.edu	37	12	25267768	25267768	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:25267768G>A	uc001rgk.3	-	12	1515	c.1433C>T	c.(1432-1434)tCc>tTc	p.S478F	CASC1_uc001rgj.3_Missense_Mutation_p.S432F|CASC1_uc001rgm.4_Missense_Mutation_p.S536F|CASC1_uc001rgl.3_Missense_Mutation_p.S472F|CASC1_uc010sje.2_Missense_Mutation_p.S413F|CASC1_uc010sjf.2_Missense_Mutation_p.S360F|CASC1_uc010sjg.1_3'UTR	NM_018272	NP_060742	Q6TDU7	CASC1_HUMAN	Homo sapiens cancer susceptibility candidate 1 (CASC1), transcript variant 1, mRNA.	472										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TGGTTTGTAGGATACATTGCT	0.363000														45			12		0	0	0.004007	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192929	132192929	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:132192929G>A	uc003vra.4	-	1	753	c.524C>T	c.(523-525)tCc>tTc	p.S175F	PLXNA4_uc003vrc.2_Missense_Mutation_p.S175F|PLXNA4_uc003vrb.3_Missense_Mutation_p.S175F	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	175	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GTTGCTGTAGGAGACGATCAC	0.532000														77			27		0	0	0.005443	0	0
CYP2A7	1549	broad.mit.edu	37	19	41387627	41387627	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:41387627G>A	uc002opm.3	-	1	752	c.210C>T	c.(208-210)acC>acT	p.T70T	CYP2A7_uc002opo.3_Silent_p.T70T|CYP2A7_uc002opn.3_Intron	NM_000764	NP_000755	P20853	CP2A7_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 7 (CYP2A7), transcript variant 1, mRNA.	70						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCAAGTGAATGGTGAACACGG	0.642000														29			12		0	0	0.001368	0	0
C6	729	broad.mit.edu	37	5	41143057	41143058	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:41143057_41143058CC>TT	uc003jmk.2	-	17	2884_2885	c.2674_2675GG>AA	c.(2674-2676)gga>AAa	p.G892K	C6_uc003jml.1_Missense_Mutation_p.G892K	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	892	C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GAGTTGGTTTCCACCCTTGAAG	0.441000														44			26		0	0	0.004672	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42361047	42361047	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:42361047C>T	uc001zox.3	-	19	2418	c.2323G>A	c.(2323-2325)Gag>Aag	p.E775K		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	775	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		AAGTCTTCCTCCTTGTAGGTC	0.657000														16			8		0	0	0.006214	0	0
POLA1	5422	broad.mit.edu	37	X	24759606	24759606	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:24759606C>T	uc004dbl.3	+	20	2328	c.2313C>T	c.(2311-2313)atC>atT	p.I771I	SCARNA23_uc004dbo.1_5'Flank	NM_016937	NP_058633	P09884	DPOLA_HUMAN	Homo sapiens polymerase (DNA directed), alpha 1, catalytic subunit (POLA1), mRNA.	771					DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell proliferation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|regulation of transcription involved in G1/S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	TCACTAACATCGCTGGGAACA	0.383000														15			20		0	0	0.008871	0	0
DNAH3	55567	broad.mit.edu	37	16	20944721	20944721	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:20944721C>T	uc010vbe.2	-	61	12106	c.12106G>A	c.(12106-12108)Gaa>Aaa	p.E4036K	DNAH3_uc010vbd.2_Missense_Mutation_p.E1471K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	4036					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGGAGAGATTCCCCAATCTGC	0.498000														46			35		0	0	0.004878	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401009	11401009	+	Silent	SNP	G	A	A	rs139094851		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:11401009G>A	uc003gmq.3	-	1	944	c.621C>T	c.(619-621)ttC>ttT	p.F207F	HS3ST1_uc021xmg.1_Silent_p.F207F	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	207						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	p.F207F(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GGCGCAGCGGGAAAAAGCGCA	0.597000														19			15		0	0	0.003163	0	0
ZNF646	9726	broad.mit.edu	37	16	31088662	31088662	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:31088662G>A	uc002eap.3	+	1	1306	c.1017G>A	c.(1015-1017)gaG>gaA	p.E339E	ZNF646_uc021tgu.1_Silent_p.E339E	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ACACAGATGAGAGCAGCCAGG	0.632000														7			7		0	0	0.001984	0	0
TAAR8	83551	broad.mit.edu	37	6	132873961	132873961	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:132873961C>T	uc011ecj.2	+	0	130	c.130C>T	c.(130-132)Ctg>Ttg	p.L44L		NM_053278	NP_444508	Q969N4	TAAR8_HUMAN	Homo sapiens trace amine associated receptor 8 (TAAR8), mRNA.	44						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TGGGTCTTTGCTGGCTGTATT	0.448000														119			53		0	0	0.003610	0	0
NPY1R	4886	broad.mit.edu	37	4	164247183	164247183	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:164247183A>T	uc003iqm.2	-	1	989	c.524T>A	c.(523-525)aTc>aAc	p.I175N	NPY1R_uc021xtv.1_Missense_Mutation_p.I175N|NPY1R_uc011cjj.2_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	175					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TACTTGGTAGATCAGGAAAGG	0.423000														21			17		0	0	0.004007	0	0
LPA	4018	broad.mit.edu	37	6	161016452	161016452	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:161016452C>T	uc003qtl.3	-	21	3523	c.3403G>A	c.(3403-3405)Gaa>Aaa	p.E1135K		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3643	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACACTTGATTCTGTCACCAGG	0.522000														104			39		0	0	0.004878	0	0
KANK4	163782	broad.mit.edu	37	1	62740257	62740257	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:62740257C>T	uc001dah.4	-	2	896	c.519G>A	c.(517-519)agG>agA	p.R173R	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	173										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CCTCAGAAGCCCTGCTGTGCA	0.642000														27			12		0	0	0.001368	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764433	109764433	+	RNA	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:109764433G>A	uc004eos.1	+	0		c.894G>A								Homo sapiens teratocarcinoma-derived growth factor 1 pseudogene 3 (TDGF1P3), non-coding RNA.																		CTTTGAACTGGGATTAGTTGC	0.507000														6			20		0	0	0.001882	0	0
RSPH4A	345895	broad.mit.edu	37	6	116944108	116944108	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:116944108G>A	uc003pxe.2	+	1	1009	c.864G>A	c.(862-864)aaG>aaA	p.K288K	RSPH4A_uc010kee.2_Silent_p.K288K	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	Homo sapiens radial spoke head 4 homolog A (Chlamydomonas) (RSPH4A), transcript variant 1, mRNA.	288					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AAAAGCAAAAGGCTCTTTTTC	0.328000									Kartagener syndrome					134			54		0	0	0.003610	0	0
WASH6P	653440	broad.mit.edu	37	X	155252770	155252770	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:155252770G>A	uc004fnw.1	+	5	1473	c.814G>A	c.(814-816)Gac>Aac	p.D272N	WASH6P_uc022cip.1_Missense_Mutation_p.D58N	NM_182905	NP_878908			Homo sapiens WAS protein family homolog 1 (WASH1), mRNA.																		CATTGCCAACGACCTCATGTA	0.607000														11			9		0	0	0.004482	0	0
CATSPERG	57828	broad.mit.edu	37	19	38861407	38861407	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:38861407C>T	uc002oih.4	+	28	3542	c.3455C>T	c.(3454-3456)gCc>gTc	p.A1152V	CATSPERG_uc002oig.4_Missense_Mutation_p.A1112V|CATSPERG_uc002oif.4_Missense_Mutation_p.A792V|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	1152					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CCCAAGGAAGCCGTGGAGAGA	0.557000														65			29		0	0	0.009535	0	0
CNR1	1268	broad.mit.edu	37	6	88854756	88854756	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:88854756C>T	uc010kbz.3	-	1	368	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	CNR1_uc011dzr.2_Missense_Mutation_p.E80K|CNR1_uc011dzs.2_Missense_Mutation_p.E80K|CNR1_uc003pmq.4_Missense_Mutation_p.E80K|CNR1_uc011dzt.2_Missense_Mutation_p.E80K|CNR1_uc010kca.3_Missense_Mutation_p.E47K|CNR1_uc021zco.1_Missense_Mutation_p.E80K	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	80					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TTGTAAAATTCTGTAATGTTC	0.478000														26			18		0	0	0.010504	0	0
ABCB5	340273	broad.mit.edu	37	7	20685612	20685612	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:20685612G>A	uc010kuh.3	+	8	1069	c.832G>A	c.(832-834)Gat>Aat	p.D278N	ABCB5_uc003suw.4_5'Flank|ABCB5_uc003suv.4_5'Flank|ABCB5_uc011jyi.1_5'Flank	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	463	ABC transmembrane type-1.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGATGCAAAGGATTTTGGCAT	0.353000														48			22		0	0	0.010504	0	0
STAT3	6774	broad.mit.edu	37	17	40476848	40476848	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:40476848G>A	uc002hzl.1	-	16	1721	c.1481C>T	c.(1480-1482)aCc>aTc	p.T494I	STAT3_uc002hzk.1_Missense_Mutation_p.T494I|STAT3_uc002hzm.1_Missense_Mutation_p.T494I|STAT3_uc010wgh.1_Missense_Mutation_p.T396I|STAT3_uc002hzn.1_Missense_Mutation_p.T494I	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	494					JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TGGGGGCTTGGTAAAAAAGTT	0.488000									Hyperimmunoglobulin E Recurrent Infection Syndrome					35			29		0	0	0.009535	0	0
CYP4F2	8529	broad.mit.edu	37	19	15990703	15990703	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:15990703C>T	uc002nbs.1	-	9	1170	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N	CYP4F2_uc010xot.1_Missense_Mutation_p.D225N	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	374					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.D373E(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGGCCAGGTCGTCCCTAAGG	0.557000														93			33		0	0	0.005524	0	0
ERBB2	2064	broad.mit.edu	37	17	37873615	37873615	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:37873615C>T	uc002hso.3	+	14	2018	c.1780C>T	c.(1780-1782)Ccc>Tcc	p.P594S	ERBB2_uc010cwa.3_Missense_Mutation_p.P579S|ERBB2_uc002hsm.3_Missense_Mutation_p.P564S|ERBB2_uc002hsp.3_Missense_Mutation_p.P397S|ERBB2_uc010cwb.3_Missense_Mutation_p.P594S|ERBB2_uc010wek.2_Missense_Mutation_p.P318S|ERBB2_uc002hsl.3_Missense_Mutation_p.P564S	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	594					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TAAGGACCCTCCCTTCTGCGT	0.632000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)				32			5		0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179584810	179584810	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179584810G>A	uc021vsy.1	-	77	20052	c.19827C>T	c.(19825-19827)ctC>ctT	p.L6609L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.L3270L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7536	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)			TCCCCAGCTGGAGGGTTGCAA	0.418000														57			22		0	0	0.001882	0	0
PLCL2	23228	broad.mit.edu	37	3	17053022	17053022	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:17053022C>T	uc011awc.2	+	2	2256	c.2160C>T	c.(2158-2160)ctC>ctT	p.L720L	PLCL2_uc011awd.2_Silent_p.L602L	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	728	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GCTATGTCCTCCGGCCAGCCA	0.488000														42			19		0	0	0.010504	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517200	158517200	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:158517200C>T	uc010pil.2	-	0	696	c.696G>A	c.(694-696)agG>agA	p.R232R		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA.	232					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)					CAGAAGGGATCCTGAGGATGG	0.527000														59			14		0	0	0.002450	0	0
GPC5	2262	broad.mit.edu	37	13	92345554	92345554	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:92345554G>A	uc010tif.2	+	2	805	c.439G>A	c.(439-441)Gat>Aat	p.D147N		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	147						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			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)				GTTCTTCACTGATGTGGGGCT	0.408000														74			20		0	0	0.010504	0	0
TAOK2	9344	broad.mit.edu	37	16	29996834	29996834	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:29996834G>A	uc010bzm.2	+	12	1779	c.1744G>A	c.(1744-1746)Gag>Aag	p.E582K	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Missense_Mutation_p.E575K|TAOK2_uc021tgf.1_Missense_Mutation_p.E575K|TAOK2_uc002dva.2_Missense_Mutation_p.E575K|TAOK2_uc002dvc.2_Missense_Mutation_p.E575K|TAOK2_uc002dvd.2_Missense_Mutation_p.E402K	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	575					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCAGAAGAAGGAGCTGGCTGC	0.647000														15			5		0	0	0.000602	0	0
RNF152	220441	broad.mit.edu	37	18	59483483	59483483	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:59483483C>T	uc002lih.1	-	1	626	c.214G>A	c.(214-216)Gac>Aac	p.D72N	RNF152_uc021ula.1_Missense_Mutation_p.D72N	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	Homo sapiens ring finger protein 152 (RNF152), mRNA.	72					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				ACCTCCGGGTCGTCCGGGAGC	0.637000														25			5		0	0	0.000602	0	0
SYNRG	11276	broad.mit.edu	37	17	35928907	35928907	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:35928907G>A	uc002hoa.3	-	10	1550	c.1467C>T	c.(1465-1467)tcC>tcT	p.S489S	SYNRG_uc010wde.2_Silent_p.S411S|SYNRG_uc010wdf.2_Silent_p.S411S|SYNRG_uc002hoc.3_Silent_p.S410S|SYNRG_uc002hoe.3_Silent_p.S411S|SYNRG_uc002hod.3_Silent_p.S411S|SYNRG_uc010wdg.2_Silent_p.S328S|SYNRG_uc002hob.3_Silent_p.S489S|SYNRG_uc002hof.3_Silent_p.S201S|SYNRG_uc010cvd.1_Silent_p.S289S|SYNRG_uc002hog.1_Silent_p.S623S	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA.	489					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTCCATGCTGGGAGTTACTTG	0.368000														63			12		0	0	0.000978	0	0
CCDC15	80071	broad.mit.edu	37	11	124857470	124857470	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:124857470C>T	uc001qbm.4	+	7	1607	c.1348C>T	c.(1348-1350)Cta>Tta	p.L450L		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	Homo sapiens coiled-coil domain containing 15 (CCDC15), mRNA.	450				L -> P (in Ref. 3; BAB14504).		centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CCAGGACTTCCTACCCAGAGA	0.408000														64			29		0	0	0.006320	0	0
IKZF1	10320	broad.mit.edu	37	7	50450384	50450384	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:50450384G>A	uc003tow.4	+	4	723	c.568G>A	c.(568-570)Ggc>Agc	p.G190S	IKZF1_uc022acq.1_Intron|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Intron|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Missense_Mutation_p.G103S|IKZF1_uc022acu.1_Missense_Mutation_p.G103S|IKZF1_uc003tox.4_Missense_Mutation_p.G190S|IKZF1_uc022acv.1_Missense_Mutation_p.G103S|IKZF1_uc022acw.1_Missense_Mutation_p.G103S|IKZF1_uc022acx.1_Missense_Mutation_p.G190S|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Intron|IKZF1_uc011kck.2_Missense_Mutation_p.G103S|IKZF1_uc003toy.4_Missense_Mutation_p.G190S|IKZF1_uc003toz.4_Missense_Mutation_p.G160S|IKZF1_uc010kyx.3_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	190	Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity).				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CGCCCTCACTGGCCACCTGAG	0.657000			"""D,T"""	BCL6	"""ALL, DLBCL"""									11			4		0	0	0.001168	0	0
SMYD3	64754	broad.mit.edu	37	1	246027153	246027153	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:246027153C>T	uc001ibl.3	-	8	974	c.849G>A	c.(847-849)tgG>tgA	p.W283*	SMYD3_uc001ibk.3_Nonsense_Mutation_p.W224*|SMYD3_uc001ibj.3_Nonsense_Mutation_p.W94*	NM_001167740	NP_073580	Q9H7B4	SMYD3_HUMAN	Homo sapiens SET and MYND domain containing 3 (SMYD3), transcript variant 1, mRNA.	283						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		GAACTTCCTTCCATACTTGCT	0.423000														46			7		0	0	0.003080	0	0
CSMD3	114788	broad.mit.edu	37	8	113871469	113871469	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:113871469C>G	uc003ynu.3	-	10	1819	c.1660G>C	c.(1660-1662)Gga>Cga	p.G554R	CSMD3_uc003ynt.3_Missense_Mutation_p.G514R|CSMD3_uc011lhx.2_Missense_Mutation_p.G450R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	554	CUB 3.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCACTTGGTCCTTGAAGATTA	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				39			16		0	0	0.003163	0	0
NBPF10	100132406	broad.mit.edu	37	1	144619403	144619403	+	Missense_Mutation	SNP	A	G	G	rs4067646		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:144619403A>G	uc009wig.1	+	5	738	c.544A>G	c.(544-546)Aaa>Gaa	p.K182E	NBPF10_uc010oxo.1_Missense_Mutation_p.K184E|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Missense_Mutation_p.K115E|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	184										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAAAGTGCAGAAATCATCTGC	0.413000														193			7		0	0	0.004482	0	0
KIAA1383	54627	broad.mit.edu	37	1	232943543	232943543	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:232943543C>T	uc001hvh.2	+	0	2906	c.2774C>T	c.(2773-2775)aCt>aTt	p.T925I		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	Homo sapiens KIAA1383 (KIAA1383), mRNA.	783										breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)	20		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				ATTTCAAAGACTCAGGATAAA	0.363000														39			18		0	0	0.007413	0	0
PLCE1	51196	broad.mit.edu	37	10	96081674	96081675	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:96081674_96081675AC>TT	uc001kjk.3	+	29	6993_6994	c.6359_6360AC>TT	c.(6358-6360)aac>aTT	p.N2120I	PLCE1_uc010qnx.2_Missense_Mutation_p.N2104I|PLCE1_uc001kjm.3_Missense_Mutation_p.N1812I|PLCE1_uc001kjp.3_Missense_Mutation_p.N478I	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	2120					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GAAGAGAAAAACATTGTTCAAG	0.356000														10			9		0	0	0.004672	0	0
abParts	0	broad.mit.edu	37	14	106899283	106899283	+	RNA	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:106899283G>A	uc021ser.1	-	374		c.12345C>T								Parts of antibodies, mostly variable regions.																		GAGAGTCTCAGGGACCCCCCA	0.587000														75			28		0	0	0.007291	0	0
SH2D3C	10044	broad.mit.edu	37	9	130513528	130513528	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:130513528C>T	uc004bsc.3	-	3	749	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	SH2D3C_uc010mxo.3_Missense_Mutation_p.E43K|SH2D3C_uc004bry.3_Missense_Mutation_p.E45K|SH2D3C_uc004brz.4_5'UTR|SH2D3C_uc011mak.2_5'UTR|SH2D3C_uc004bsb.3_Missense_Mutation_p.E135K|SH2D3C_uc004bsa.3_Missense_Mutation_p.E46K	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	203					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCCTCCAATTCCTTGTGGAGT	0.542000														46			32		0	0	0.009535	0	0
SPANXC	64663	broad.mit.edu	37	X	140335800	140335800	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:140335800C>T	uc004fbk.3	-	1	200	c.144G>A	c.(142-144)tcG>tcA	p.S48S	SPANXC_uc004fbl.3_Non-coding_Transcript	NM_022661	NP_073152	Q9NY87	SPNXC_HUMAN	Homo sapiens SPANX family, member C (SPANXC), mRNA.	48						cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					CTAGTATGGTCGAGGACTCAG	0.512000														58			65		0	0	0.003610	0	0
MYH1	4619	broad.mit.edu	37	17	10398572	10398572	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:10398572C>T	uc002gmo.3	-	35	5326	c.5232G>A	c.(5230-5232)gaG>gaA	p.E1744E	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1744						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.G1743E(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						TGTCTTCCATCTCTCCCTGGA	0.443000														70			54		0	0	0.003610	0	0
MYOM3	127294	broad.mit.edu	37	1	24432553	24432553	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:24432553G>A	uc001bin.4	-	4	580	c.417C>T	c.(415-417)gtC>gtT	p.V139V	MYOM3_uc001bio.3_Silent_p.V139V|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	139										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGGCCTCCTGGACCTTCTCCT	0.637000														21			10		0	0	0.000978	0	0
NEB	4703	broad.mit.edu	37	2	152420119	152420119	+	Splice_Site	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:152420119C>T	uc021vrb.1	-	90	13619	c.13590_splice	c.e90+1	p.A4530_splice	NEB_uc002txr.3_Splice_Site_p.A996_splice|NEB_uc002txu.3_Splice_Site_p.A6231_splice|NEB_uc021vrc.1_Splice_Site_p.A6231_splice|NEB_uc010fnx.3_Splice_Site_p.A4518_splice|NEB_uc021vrd.1_Splice_Site_p.A4530_splice	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4530					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATTTACTTACCGCACTCCTC	0.468000														231			12		0	0	0.001855	0	0
DNAH7	56171	broad.mit.edu	37	2	196774764	196774764	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:196774764C>T	uc002utj.4	-	24	4192	c.4091G>A	c.(4090-4092)gGa>gAa	p.G1364E		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1364	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.G1364G(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAAGAATTTTCCCAAAGCCAA	0.358000														38			23		0	0	0.003330	0	0
BAHD1	22893	broad.mit.edu	37	15	40751535	40751535	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:40751535C>T	uc001zlu.2	+	1	943	c.872C>T	c.(871-873)cCa>cTa	p.P291L	BAHD1_uc001zlt.2_Missense_Mutation_p.P291L|BAHD1_uc010bbp.1_Missense_Mutation_p.P291L|BAHD1_uc001zlv.2_Missense_Mutation_p.P291L	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	291	Pro-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	DNA binding|chromatin binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCTTGTGGGCCATCCGTCCAG	0.667000														45			10		0	0	0.006214	0	0
DPP4	1803	broad.mit.edu	37	2	162875760	162875760	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:162875760C>T	uc002ubz.3	-	14	1832	c.1271G>A	c.(1270-1272)gGa>gAa	p.G424E	DPP4_uc010fpb.3_Missense_Mutation_p.G100E	NM_001935	NP_001926	P27487	DPP4_HUMAN	Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA.	424					T cell activation|T cell costimulation|cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	TCCTGGCATTCCTTTATATTC	0.318000														58			16		0	0	0.004007	0	0
MAGI1	9223	broad.mit.edu	37	3	65342697	65342697	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:65342697C>T	uc003dmn.3	-	22	4271	c.3745G>A	c.(3745-3747)Gat>Aat	p.D1249N	MAGI1_uc003dmm.3_3'UTR	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	1278					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TTGTGAAGATCGGGTGGGTAA	0.612000														71			46		0	0	0.003610	0	0
OR52M1	119772	broad.mit.edu	37	11	4566547	4566547	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:4566547G>C	uc010qyf.2	+	0	127	c.127G>C	c.(127-129)Ggg>Cgg	p.G43R		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCTGTGGTGGGGAATGTGAC	0.562000														45			21		0	0	0.001882	0	0
GPR116	221395	broad.mit.edu	37	6	46847732	46847732	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:46847732C>T	uc003oyo.3	-	8	1148	c.859G>A	c.(859-861)Gac>Aac	p.D287N	GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Missense_Mutation_p.D287N|GPR116_uc010jzi.1_5'UTR|GPR116_uc003oyr.2_Missense_Mutation_p.D287N	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	287	Ig-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CTGACTGTGTCCCCTTCAAAG	0.413000														44			14		0	0	0.004007	0	0
CFI	3426	broad.mit.edu	37	4	110667517	110667517	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:110667517G>A	uc011cft.2	-	11	1522	c.1314C>T	c.(1312-1314)atC>atT	p.I438I	CFI_uc003hzq.3_Silent_p.I227I|CFI_uc003hzr.4_Silent_p.I430I	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	430	Peptidase S1.				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)		CAATCAAAGCGATGTCATTTT	0.408000														37			9		0	0	0.006214	0	0
COL11A1	1301	broad.mit.edu	37	1	103483408	103483408	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:103483408G>A	uc001dum.3	-	10	1735	c.1417C>T	c.(1417-1419)Ccc>Tcc	p.P473S	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.P461S|COL11A1_uc001dun.3_Missense_Mutation_p.P422S|COL11A1_uc009weh.3_Missense_Mutation_p.P345S	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	461	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGTCCAGTGGGGCCTTGTAGA	0.383000														42			33		0	0	0.005524	0	0
SLC38A1	81539	broad.mit.edu	37	12	46598182	46598182	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:46598182G>A	uc009zkj.1	-	10	1409	c.724C>T	c.(724-726)Caa>Taa	p.Q242*	SLC38A1_uc001rpb.3_Nonsense_Mutation_p.Q242*|SLC38A1_uc001rpc.3_Nonsense_Mutation_p.Q242*|SLC38A1_uc001rpd.3_Nonsense_Mutation_p.Q242*|SLC38A1_uc001rpe.3_Nonsense_Mutation_p.Q242*|SLC38A1_uc010slh.2_Nonsense_Mutation_p.Q215*|SLC38A1_uc001rpa.3_Nonsense_Mutation_p.Q242*	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	242					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CAGGGAATTTGAAATTTCTTG	0.323000														102			40		0	0	0.006230	0	0
SH2D5	400745	broad.mit.edu	37	1	21049398	21049398	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:21049398G>A	uc009vpy.1	-	8	1421	c.919C>T	c.(919-921)Ctg>Ttg	p.L307L	SH2D5_uc001bdt.1_Silent_p.L223L|SH2D5_uc001bdu.1_Non-coding_Transcript	NM_001103161	NP_001096630	Q6ZV89	SH2D5_HUMAN	Homo sapiens SH2 domain containing 5 (SH2D5), transcript variant 1, mRNA.	223	SH2.									lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AACAGGGCCAGGGCACAGGGC	0.662000														14			5		0	0	0.001984	0	0
CNGB1	1258	broad.mit.edu	37	16	57935322	57935322	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:57935322C>T	uc002emt.2	-	28	2975	c.2910G>A	c.(2908-2910)atG>atA	p.M970I	CNGB1_uc010cdh.2_Missense_Mutation_p.M964I	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	970					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TGTCAAAGATCATCTGCCGGT	0.572000														34			34		0	0	0.003271	0	0
LIPK	643414	broad.mit.edu	37	10	90497476	90497476	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:90497476C>T	uc010qmv.2	+	5	754	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C		NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN	Homo sapiens lipase, family member K (LIPK), mRNA.	252					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		AAAGCTATTCCGTCGTATTTG	0.373000														94			54		0	0	0.003610	0	0
E4F1	1877	broad.mit.edu	37	16	2284185	2284185	+	Silent	SNP	C	T	T	rs113270919		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:2284185C>T	uc002cpm.3	+	9	1437	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	E4F1_uc010bsi.3_Silent_p.F463F|E4F1_uc010bsj.3_Intron|DNASE1L2_uc002cpn.3_5'Flank|DNASE1L2_uc002cpo.3_5'Flank|DNASE1L2_uc002cpp.3_5'Flank|DNASE1L2_uc002cpq.3_5'Flank	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	Homo sapiens E4F transcription factor 1 (E4F1), mRNA.	463	Interaction with BMI1.|Mediates interaction with CDKN2A.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						CGAGGCCGTTCGCCTGCGCGC	0.706000														13			11		0	0	0.000978	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024225	55024225	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:55024225C>T	uc002lgn.3	+	2	741	c.384C>T	c.(382-384)caC>caT	p.H128H		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	128					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		AACTGATGCACTATGATTATT	0.318000														59			8		0	0	0.006214	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57872369	57872369	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:57872369C>T	uc001sod.3	-	5	894	c.701G>A	c.(700-702)aGa>aAa	p.R234K	ARHGAP9_uc001snz.3_5'Flank|ARHGAP9_uc001soa.3_5'Flank|ARHGAP9_uc001sob.3_Missense_Mutation_p.R163K|ARHGAP9_uc001soc.3_Missense_Mutation_p.R163K|ARHGAP9_uc001soe.1_Missense_Mutation_p.R242K|ARHGAP9_uc010sro.1_Missense_Mutation_p.R163K	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	163	WW.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GGAGAGGGATCTTCCGCTTGG	0.577000														79			38		0	0	0.006230	0	0
ERG	2078	broad.mit.edu	37	21	39774508	39774508	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:39774508G>A	uc010gnw.3	-	6	960	c.665C>T	c.(664-666)tCt>tTt	p.S222F	ERG_uc021wjd.1_Missense_Mutation_p.S222F|ERG_uc002yxa.3_Missense_Mutation_p.S215F|ERG_uc011aek.2_Missense_Mutation_p.S123F|ERG_uc010gnv.3_Missense_Mutation_p.S123F|ERG_uc010gnx.3_Missense_Mutation_p.S222F|ERG_uc011ael.2_Missense_Mutation_p.S222F|ERG_uc002yxb.3_Missense_Mutation_p.S222F|ERG_uc011aem.1_Intron|ERG_uc002yxc.4_Missense_Mutation_p.S222F|ERG_uc010gny.1_Intron	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	222					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				TAACCGTGGAGAGTTTTGTAA	0.438000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""									38			14		0	0	0.004990	0	0
RASGRF2	5924	broad.mit.edu	37	5	80363981	80363981	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:80363981G>A	uc003kha.2	+	2	576	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	RASGRF2_uc011ctn.2_Non-coding_Transcript|RASGRF2_uc003khb.1_5'Flank	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	176					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding	p.E176K(2)|p.I175T(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CACAGAAATCGAAAGGCTTAA	0.383000														52			16		0	0	0.007413	0	0
APLP1	333	broad.mit.edu	37	19	36364555	36364555	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:36364555G>A	uc002oce.3	+	7	1134	c.996G>A	c.(994-996)tgG>tgA	p.W332*	APLP1_uc010xsz.2_Nonsense_Mutation_p.W293*|APLP1_uc002ocf.3_Nonsense_Mutation_p.W332*|APLP1_uc002ocg.3_Nonsense_Mutation_p.W235*|APLP1_uc010xta.2_Nonsense_Mutation_p.W326*	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	332	Heparin-binding (By similarity).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCGTGAATGGGCCATGGCAG	0.562000														36			14		0	0	0.004990	0	0
KCNF1	3754	broad.mit.edu	37	2	11053729	11053729	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:11053729T>G	uc002rax.3	+	0	1667	c.1177T>G	c.(1177-1179)Tgt>Ggt	p.C393G		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	393						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CAGCTTCTTGTGTGGTGTCAT	0.597000														34			9		0	0	0.004482	0	0
MT1A	4489	broad.mit.edu	37	16	56673228	56673228	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:56673228C>T	uc002ejq.3	+	1	154	c.81C>T	c.(79-81)acC>acT	p.T27T	MT1A_uc002eji.3_Intron	NM_005946	NP_005937	P04731	MT1A_HUMAN	Homo sapiens metallothionein 1A (MT1A), mRNA.	27	Beta.		T -> N (in dbSNP:rs11640851).			cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)	3						GCAAATGCACCTCCTGCAAGA	0.527000														19			13		0	0	0.004990	0	0
USP1	7398	broad.mit.edu	37	1	62910551	62910551	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:62910551G>A	uc001daj.2	+	5	1028	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	USP1_uc001dak.2_Missense_Mutation_p.E234K|USP1_uc001dal.2_Missense_Mutation_p.E234K	NM_001017415	NP_003359	O94782	UBP1_HUMAN	Homo sapiens ubiquitin specific peptidase 1 (USP1), transcript variant 2, mRNA.	234					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		TACTAAGGTAGAAGAAATACC	0.353000														55			34		0	0	0.004289	0	0
PROKR2	128674	broad.mit.edu	37	20	5282926	5282926	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:5282926G>A	uc010zqw.2	-	1	923	c.915C>T	c.(913-915)ttC>ttT	p.F305F	PROKR2_uc010zqx.2_Silent_p.F305F|PROKR2_uc010zqy.2_Silent_p.F305F	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	305						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TTTCCTTCACGAACACAGTGG	0.537000										HNSCC(71;0.22)				56			30		0	0	0.008361	0	0
OR7C2	26658	broad.mit.edu	37	19	15053166	15053167	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:15053166_15053167AC>TT	uc010xoc.2	+	0	866_867	c.866_867AC>TT	c.(865-867)tac>tTT	p.Y289F		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CCCTTCATCTACAGCCTGAGGA	0.540000														73			26		0	0	0.004672	0	0
KIFC2	90990	broad.mit.edu	37	8	145697783	145697783	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:145697783G>A	uc003zcz.3	+	14	1712	c.1647G>A	c.(1645-1647)gtG>gtA	p.V549V	KIFC2_uc003zda.3_5'Flank	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	Homo sapiens kinesin family member C2 (KIFC2), mRNA.	549	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCCTGGCCGTGAGGCAGGGCC	0.657000														29			11		0	0	0.001368	0	0
ZBBX	79740	broad.mit.edu	37	3	166960362	166960362	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:166960362A>T	uc011bpc.2	-	20	2661	c.2324T>A	c.(2323-2325)aTa>aAa	p.I775K	ZBBX_uc003feq.3_Missense_Mutation_p.I707K|ZBBX_uc003fep.3_Missense_Mutation_p.I736K	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	736						intracellular	zinc ion binding	p.S774F(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AATCTGACTTATATTCAGTGA	0.368000														36			15		0	0	0.004007	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55284790	55284790	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:55284790C>T	uc010erz.1	+	2	114	c.76C>T	c.(76-78)Cac>Tac	p.H26Y	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_5'Flank|KIR2DL1_uc002qhb.1_Missense_Mutation_p.H26Y	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	26					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)		CCTAGGAGTCCACAGAAAACC	0.502000														94			6		0	0	0.008871	0	0
FYCO1	79443	broad.mit.edu	37	3	46008470	46008470	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:46008470G>A	uc011bal.1	-	6	2468	c.2356C>T	c.(2356-2358)Caa>Taa	p.Q786*	FYCO1_uc003cpb.4_Nonsense_Mutation_p.Q786*	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	786					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TGCAGCCGTTGGACCTCCCCC	0.642000														42			23		0	0	0.003954	0	0
ProSAPiP1	9762	broad.mit.edu	37	20	3147713	3147713	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:3147713G>A	uc002wia.1	-	0	1495	c.97C>T	c.(97-99)Ccc>Tcc	p.P33S	ProSAPiP1_uc002wib.1_Missense_Mutation_p.P33S	NM_014731	NP_055546	O60299	PRIP1_HUMAN	Homo sapiens ProSAPiP1 protein (ProSAPiP1), mRNA.	33						cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCCAGGCGGGGGTCCGGGGGT	0.711000														11			4		0	0	0.001168	0	0
PLD5	200150	broad.mit.edu	37	1	242253296	242253296	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:242253296C>T	uc001hzn.2	-	10	1698	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	PLD5_uc021pll.1_Missense_Mutation_p.E399K|PLD5_uc001hzl.4_Missense_Mutation_p.E429K|PLD5_uc001hzm.4_Missense_Mutation_p.E283K|PLD5_uc001hzo.2_Missense_Mutation_p.E399K	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	491						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CAGTCCCTTTCAAACACATCT	0.458000														79			56		0	0	0.003610	0	0
HEATR5B	54497	broad.mit.edu	37	2	37230775	37230775	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:37230775G>A	uc002rpp.1	-	30	5056	c.4960C>T	c.(4960-4962)Cca>Tca	p.P1654S	HEATR5B_uc010ezy.1_Missense_Mutation_p.P238S	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	1654							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ACAGATGATGGATTCCAGGTC	0.373000														29			11		0	0	0.008291	0	0
CD1C	911	broad.mit.edu	37	1	158262655	158262655	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:158262655C>T	uc001fru.3	+	3	1172	c.880C>T	c.(880-882)Ctc>Ttc	p.L294F	CD1C_uc021pbl.1_Non-coding_Transcript	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	294	Ig-like.				T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GGACATCATCCTCTACTGGGG	0.532000														26			6		0	0	0.001984	0	0
C2orf66	401027	broad.mit.edu	37	2	197672301	197672301	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:197672301G>A	uc002utv.3	-	1	1109	c.220C>T	c.(220-222)Ctt>Ttt	p.L74F		NM_213608	NP_998773	Q6UXQ4	CB066_HUMAN	Homo sapiens chromosome 2 open reading frame 66 (C2orf66), mRNA.	74						extracellular region				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						AATGTTCCAAGATCAAGACCT	0.383000														111			53		0	0	0.003610	0	0
CDCA5	113130	broad.mit.edu	37	11	64846871	64846871	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:64846871G>A	uc001ocp.2	-	4	797	c.632C>T	c.(631-633)cCa>cTa	p.P211L		NM_080668	NP_542399	Q96FF9	CDCA5_HUMAN	Homo sapiens cell division cycle associated 5 (CDCA5), mRNA.	211					G1/S transition of mitotic cell cycle|cell division|double-strand break repair|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TTTCTCGGGTGGTGGGGAGAT	0.572000														49			15		0	0	0.004990	0	0
SALL1	6299	broad.mit.edu	37	16	51175596	51175596	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:51175596G>A	uc021tif.1	-	1	568	c.246C>T	c.(244-246)ctC>ctT	p.L82L	SALL1_uc021tid.1_Silent_p.L82L|SALL1_uc021tie.1_Silent_p.L179L|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	179					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCAGGTCCCCGAGTTGAGGTA	0.617000														26			19		0	0	0.010504	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73064048	73064048	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:73064048C>T	uc001otu.3	+	2	3465	c.3444C>T	c.(3442-3444)ctC>ctT	p.L1148L		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	1148	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GAGCCCTGCTCGTCCAGTCGG	0.657000														28			23		0	0	0.002780	0	0
TLL1	7092	broad.mit.edu	37	4	167020676	167020676	+	Silent	SNP	C	T	T	rs115401178	by1000genomes	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:167020676C>T	uc003irh.2	+	19	3551	c.2904C>T	c.(2902-2904)tcC>tcT	p.S968S	TLL1_uc011cjn.2_Silent_p.S991S|TLL1_uc011cjo.2_Silent_p.S792S	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	968	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TCTGTGGATCCGGGGTAAATA	0.423000														59			20		0	0	0.010504	0	0
KIF21B	23046	broad.mit.edu	37	1	200973910	200973910	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:200973910G>A	uc001gvs.2	-	5	1201	c.884C>T	c.(883-885)tCc>tTc	p.S295F	KIF21B_uc009wzl.2_Missense_Mutation_p.S295F|KIF21B_uc001gvr.2_Missense_Mutation_p.S295F|KIF21B_uc010ppn.2_Missense_Mutation_p.S295F|KIF21B_uc001gvt.1_Missense_Mutation_p.S78F	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	295	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ACAGTTGATGGAGATGCCCTC	0.607000														26			18		0	0	0.002299	0	0
SHPRH	257218	broad.mit.edu	37	6	146266711	146266711	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:146266711G>A	uc003qlf.3	-	7	1783	c.1384C>T	c.(1384-1386)Ctt>Ttt	p.L462F	SHPRH_uc003qle.3_Missense_Mutation_p.L462F|SHPRH_uc003qlg.1_Missense_Mutation_p.L18F|SHPRH_uc003qlj.1_Missense_Mutation_p.L351F	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	462	H15.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TAGATGGAAAGGATGGACACT	0.338000														32			14		0	0	0.001855	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100821477	100821477	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:100821477C>T	uc002bvv.1	-	3	825	c.746G>A	c.(745-747)gGg>gAg	p.G249E	ADAMTS17_uc002bvx.1_Missense_Mutation_p.G6E	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	249	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGCCTCGGCCCCGTGGTACTG	0.652000														93			26		0	0	0.005443	0	0
FAM75C2	645961	broad.mit.edu	37	9	90747548	90747548	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:90747548C>T	uc011lti.2	-	3	433	c.404G>A	c.(403-405)aGa>aAa	p.R135K		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	135																	ATCAGGTGTTCTTTTGCCCAC	0.592000														36			28		0	0	0.002096	0	0
CBLC	23624	broad.mit.edu	37	19	45295716	45295716	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:45295716T>C	uc002ozs.3	+	6	1145	c.1082T>C	c.(1081-1083)gTg>gCg	p.V361A	CBLC_uc010ejt.3_Missense_Mutation_p.V315A	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	361					cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.D360N(1)		breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				AACAAGGATGTGAAGATTGAG	0.607000			M		AML									100			46		0	0	0.003610	0	0
SLC30A10	55532	broad.mit.edu	37	1	220091654	220091654	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:220091654C>T	uc001hlw.3	-	2	1112	c.901G>A	c.(901-903)Gag>Aag	p.E301K	RNU5F-1_uc021pjd.1_Intron|SLC30A10_uc001hlu.1_Non-coding_Transcript|SLC30A10_uc001hlv.3_Missense_Mutation_p.E56K|SLC30A10_uc001hlx.3_Missense_Mutation_p.E76K	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	Homo sapiens solute carrier family 30, member 10 (SLC30A10), mRNA.	301					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		GCAGCGGTCTCCTTGATAAGC	0.468000														103			26		0	0	0.004656	0	0
DNAH5	1767	broad.mit.edu	37	5	13876922	13876922	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:13876922G>A	uc003jfd.2	-	21	3309	c.3267C>T	c.(3265-3267)acC>acT	p.T1089T		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1089	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTATCTCCAAGGTATCTAAAA	0.328000									Kartagener syndrome					53			18		0	0	0.006122	0	0
SCN2A	6326	broad.mit.edu	37	2	166172039	166172039	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:166172039G>A	uc002udc.3	+	10	1732	c.1442G>A	c.(1441-1443)gGa>gAa	p.G481E	SCN2A_uc002udd.3_Missense_Mutation_p.G481E|SCN2A_uc002ude.3_Missense_Mutation_p.G481E	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	481					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GGTGGGATAGGAGTTTTTTCA	0.423000														72			29		0	0	0.009535	0	0
GTSF1	121355	broad.mit.edu	37	12	54865020	54865020	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:54865020A>G	uc001sgb.3	-	1	99	c.13T>C	c.(13-15)Tac>Cac	p.Y5H		NM_144594	NP_653195	Q8WW33	GTSF1_HUMAN	Homo sapiens gametocyte specific factor 1 (GTSF1), mRNA.	5							metal ion binding	p.T4T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				TACATACTGTAAGTTTCTTCC	0.338000														25			10		0	0	0.008291	0	0
STMN4	81551	broad.mit.edu	37	8	27101227	27101227	+	Splice_Site	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:27101227C>T	uc011lak.2	-	2	127	c.13_splice	c.e2+1	p.A5_splice	STMN4_uc003xfj.3_Splice_Site_p.A5_splice|STMN4_uc011lai.2_Splice_Site_p.A5_splice|STMN4_uc011laj.2_Intron|STMN4_uc003xfk.3_Splice_Site_p.A5_splice|STMN4_uc010luo.3_Splice_Site_p.A5_splice	NM_030795	NP_110422	Q9H169	STMN4_HUMAN	Homo sapiens stathmin-like 4 (STMN4), mRNA.	5					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		TTTGTACCTACCAGCAAGGGT	0.522000														54			17		0	0	0.006122	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111530295	111530295	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:111530295G>A	uc003kpv.1	-	16	1746	c.1472C>T	c.(1471-1473)tCt>tTt	p.S491F	EPB41L4A_uc003kpp.1_Missense_Mutation_p.S118F	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	491						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TTCTCTATTAGAATTTTCTGA	0.373000														26			5		0	0	0.001168	0	0
ZNF225	7768	broad.mit.edu	37	19	44622362	44622362	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:44622362G>A	uc002oyj.1	+	2	280	c.37G>A	c.(37-39)Gtg>Atg	p.V13M	ZNF225_uc010ejf.1_Missense_Mutation_p.V13M	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	Homo sapiens zinc finger protein 225 (ZNF225), mRNA.	13	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				CTTCAAGGACGTGGCTGTGGT	0.542000														79			30		0	0	0.002096	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904929	73904929	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:73904929G>A	uc011dyh.2	+	14	2995	c.2648G>A	c.(2647-2649)tGg>tAg	p.W883*	KCNQ5_uc011dyi.2_Nonsense_Mutation_p.W874*|KCNQ5_uc010kat.3_Nonsense_Mutation_p.W855*|KCNQ5_uc003pgk.3_Nonsense_Mutation_p.W864*|KCNQ5_uc011dyj.2_Nonsense_Mutation_p.W754*|KCNQ5_uc011dyk.2_Nonsense_Mutation_p.W614*	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	864					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TACCCCAAATGGAGGGAATCC	0.502000														50			23		0	0	0.002780	0	0
RAG1	5896	broad.mit.edu	37	11	36595229	36595229	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:36595229G>A	uc021qgb.1	+	0	375	c.375G>A	c.(373-375)agG>agA	p.R125R	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Silent_p.R125R	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	125	Interaction with importin alpha-1.				T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AGCACAACAGGAGATATCCAG	0.488000									Familial Hemophagocytic Lymphohistiocytosis					86			49		0	0	0.003610	0	0
NEURL	9148	broad.mit.edu	37	10	105331498	105331498	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:105331498T>C	uc001kxh.3	+	2	978	c.568T>C	c.(568-570)Ttc>Ctc	p.F190L	NEURL_uc021pxn.1_Missense_Mutation_p.F173L	NM_004210	NP_004201	O76050	NEU1A_HUMAN	Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA.	190	NHR 1.				nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TGTTATGCTGTTCTTCAGCGG	0.642000														34			26		0	0	0.008361	0	0
CACNA1S	779	broad.mit.edu	37	1	201054112	201054112	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:201054112C>T	uc001gvv.3	-	8	1425	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	400					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCTGCAATTTCATACAGGCTC	0.547000														64			14		0	0	0.003163	0	0
CERS3	204219	broad.mit.edu	37	15	101024870	101024870	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:101024870C>T	uc002bwa.3	-	6	896	c.325G>A	c.(325-327)Gat>Aat	p.D109N	CERS3_uc002bvz.3_Missense_Mutation_p.D98N|CERS3_uc002bwb.3_Missense_Mutation_p.D98N	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	Homo sapiens ceramide synthase 3 (CERS3), mRNA.	98						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CCATAAATATCAGTCTGAAAA	0.468000														24			30		0	0	0.002836	0	0
ZNF513	130557	broad.mit.edu	37	2	27603104	27603104	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:27603104C>T	uc002rkk.3	-	1	285	c.67G>A	c.(67-69)Gac>Aac	p.D23N	ZNF513_uc002rkj.3_5'UTR	NM_144631	NP_001188388	Q8N8E2	ZN513_HUMAN	Homo sapiens zinc finger protein 513 (ZNF513), transcript variant 1, mRNA.	23					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGAGGGAGTCTTCAGTATCC	0.577000														82			34		0	0	0.009718	0	0
PHC3	80012	broad.mit.edu	37	3	169835174	169835174	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:169835174G>A	uc003fgl.2	-	9	2067	c.2033C>T	c.(2032-2034)cCa>cTa	p.P678L	PHC3_uc010hws.1_Missense_Mutation_p.P666L|PHC3_uc011bpq.1_Missense_Mutation_p.P625L	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	666					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			AAGTAACAATGGAGGTGGTGG	0.433000														34			16		0	0	0.003163	0	0
SGK223	157285	broad.mit.edu	37	8	8235327	8235327	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:8235327G>A	uc003wsh.4	-	1	592	c.592C>T	c.(592-594)Caa>Taa	p.Q198*		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	198							ATP binding|non-membrane spanning protein tyrosine kinase activity										GGCCGGTCTTGGTAAGGAAAT	0.617000														79			36		0	0	0.005524	0	0
TRIM54	57159	broad.mit.edu	37	2	27521505	27521505	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:27521505C>T	uc002rjo.3	+	1	542	c.239C>T	c.(238-240)tCg>tTg	p.S80L	TRIM54_uc002rjn.3_Missense_Mutation_p.S80L	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	Homo sapiens tripartite motif containing 54 (TRIM54), transcript variant 2, mRNA.	80					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)					CGCTGCCCATCGTGCAGGCAT	0.572000														37			11		0	0	0.000978	0	0
OR10A4	283297	broad.mit.edu	37	11	6898760	6898760	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:6898760G>A	uc010rat.2	+	0	905	c.882G>A	c.(880-882)agG>agA	p.R294R		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 4 (OR10A4), mRNA.	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACAGCTCAAGGAATAAAGAAG	0.493000														77			32		0	0	0.003755	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146741041	146741041	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:146741041G>A	uc003weu.2	+	3	961	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	149	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.H148H(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGTCCGGCACGAATTACAGCA	0.423000										HNSCC(39;0.1)				94			24		0	0	0.005443	0	0
COL4A4	1286	broad.mit.edu	37	2	227896882	227896882	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:227896882C>T	uc021vxr.1	-	37	3789	c.3688G>A	c.(3688-3690)Ggt>Agt	p.G1230S	COL4A4_uc021vxs.1_Missense_Mutation_p.G1230S	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1230	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTGGGGGACCTTTCTTTCCA	0.522000														81			39		0	0	0.003610	0	0
TRPC5	7224	broad.mit.edu	37	X	111155953	111155953	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:111155953C>T	uc004epl.1	-	2	1385	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	TRPC5_uc004epm.1_Missense_Mutation_p.E156K	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	156					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.E156K(4)|p.Y155*(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTGATGATTTCGTAGTTGTTG	0.512000														18			53		0	0	0.003610	0	0
GNL1	2794	broad.mit.edu	37	6	30521151	30521151	+	Missense_Mutation	SNP	G	A	A	rs139361425	by1000genomes	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:30521151G>A	uc003nqh.3	-	5	2175	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C	GNL1_uc011dmi.2_Missense_Mutation_p.R124C|GNL1_uc011dmj.2_Missense_Mutation_p.R260C|GNL1_uc011dmk.2_Intron	NM_005275	NP_005266	P36915	GNL1_HUMAN	Homo sapiens guanine nucleotide binding protein-like 1 (GNL1), mRNA.	262					T cell mediated immunity|response to DNA damage stimulus|signal transduction	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TGTGGGGTGCGGGGGTCCCGA	0.567000														116			51		0	0	0.003610	0	0
GLIPR1L2	144321	broad.mit.edu	37	12	75804358	75804358	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:75804358G>A	uc001sxr.1	+	1	387	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	GLIPR1L2_uc001sxp.1_Missense_Mutation_p.E127K|GLIPR1L2_uc001sxq.1_Missense_Mutation_p.E20K	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN	Homo sapiens GLI pathogenesis-related 1 like 2 (GLIPR1L2), mRNA.	127						integral to membrane				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						CCCTGAAAATGAATTTACTGC	0.328000														18			22		0	0	0.006320	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382633	41382633	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:41382633G>A	uc003jmm.1	-	1	209	c.107C>T	c.(106-108)tCt>tTt	p.S36F		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	36	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.S36Y(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGAATCATGAGACCCTAGGAG	0.463000														40			20		0	0	0.008871	0	0
SLC5A4	6527	broad.mit.edu	37	22	32628921	32628921	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:32628921A>C	uc003ami.3	-	8	988	c.986T>G	c.(985-987)gTg>gGg	p.V329G		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.	329					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCCCGGCATCACCATGAGGAA	0.478000														47			9		0	0	0.004482	0	0
ATP2A2	488	broad.mit.edu	37	12	110784064	110784064	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:110784064C>T	uc001tqk.4	+	19	3481	c.2918C>T	c.(2917-2919)tCc>tTc	p.S973F	ATP2A2_uc001tql.4_Missense_Mutation_p.S973F|ATP2A2_uc021rdt.1_Missense_Mutation_p.S821F|ATP2A2_uc001tqn.4_Missense_Mutation_p.S50F|ATP2A2_uc009zvn.3_Non-coding_Transcript	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	973					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CTGAAAATCTCCTTGCCCGTG	0.562000														32			22		0	0	0.003954	0	0
FAM181A	90050	broad.mit.edu	37	14	94395482	94395482	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:94395482C>T	uc001ybz.2	+	2	1362	c.1037C>T	c.(1036-1038)cCc>cTc	p.P346L	FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_Missense_Mutation_p.P284L|FAM181A_uc021saz.1_Missense_Mutation_p.P284L|FAM181A_uc010aus.2_Missense_Mutation_p.P284L|FAM181A_uc001yca.2_Missense_Mutation_p.P284L	NM_138344	NP_001194003	Q8N9Y4	F181A_HUMAN	Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA.	346										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GTGCCCCCACCCATCTTCAAT	0.662000														46			17		0	0	0.004990	0	0
AADACL4	343066	broad.mit.edu	37	1	12704613	12704613	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:12704613C>T	uc001auf.3	+	0	48	c.48C>T	c.(46-48)ttC>ttT	p.F16F		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	16						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CCATCTTTTTCCTGGGGGTCT	0.532000														110			47		0	0	0.003610	0	0
CATSPER2	117155	broad.mit.edu	37	15	43931848	43931848	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:43931848G>A	uc001zsh.3	-	5	925	c.710C>T	c.(709-711)gCc>gTc	p.A237V	CATSPER2_uc010bdm.3_Non-coding_Transcript|CATSPER2_uc001zsi.3_Missense_Mutation_p.A237V|CATSPER2_uc001zsj.3_Missense_Mutation_p.A237V|CATSPER2_uc001zsk.3_3'UTR	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	Homo sapiens cation channel, sperm associated 2 (CATSPER2), transcript variant 2, mRNA.	237					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CACCTTGAGGGCCCTGACCAG	0.478000														111			61		0	0	0.003610	0	0
NLRP8	126205	broad.mit.edu	37	19	56485109	56485109	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:56485109G>A	uc002qmh.3	+	6	2697	c.2626G>A	c.(2626-2628)Gaa>Aaa	p.E876K	NLRP8_uc010etg.3_Missense_Mutation_p.E857K	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	876						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAGCTTGGCAGAAAACGCCTT	0.502000														119			50		0	0	0.003610	0	0
CNKSR3	154043	broad.mit.edu	37	6	154567864	154567864	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:154567864G>A	uc021zhc.1	-	14	1995	c.1490C>T	c.(1489-1491)tCg>tTg	p.S497L	OPRM1_uc003qpt.1_Missense_Mutation_p.R401Q|CNKSR3_uc003qpw.3_Missense_Mutation_p.S36L|CNKSR3_uc003qpx.3_Missense_Mutation_p.S35L|CNKSR3_uc010kjh.3_Missense_Mutation_p.S36L|CNKSR3_uc021zhd.1_Missense_Mutation_p.S80L|CNKSR3_uc021zhe.1_Intron	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	0	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		ATCTTTACACGATATCCTCCT	0.403000														32			26		0	0	0.003330	0	0
CDC14C	168448	broad.mit.edu	37	7	48964496	48964496	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:48964496G>A	uc010kyv.1	+	0	340	c.228G>A	c.(226-228)aaG>aaA	p.K76K						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		AGATAAATAAGAAATTAAAGT	0.353000														42			15		0	0	0.010504	0	0
NPY	4852	broad.mit.edu	37	7	24329192	24329192	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:24329192G>A	uc003sww.2	+	2	351	c.263G>A	c.(262-264)aGa>aAa	p.R88K		NM_000905	NP_000896	P01303	NPY_HUMAN	Homo sapiens neuropeptide Y (NPY), mRNA.	88					G-protein signaling, coupled to cyclic nucleotide second messenger|adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	G-protein coupled receptor activity|calcium channel regulator activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						AATGTTCCCAGAACTCGGTAT	0.488000														46			14		0	0	0.004007	0	0
DDC	1644	broad.mit.edu	37	7	50605573	50605573	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:50605573C>T	uc003tpg.4	-	3	621	c.420G>A	c.(418-420)ggG>ggA	p.G140G	DDC_uc022ade.1_Intron|DDC_uc003tpf.4_Silent_p.G140G|DDC_uc022adb.1_Silent_p.G102G|DDC_uc022adc.1_Silent_p.G140G|DDC_uc022add.1_Silent_p.G140G|DDC_uc022adf.1_Silent_p.G140G|LOC100129427_uc022adg.1_Intron	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	140	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TCACTCCTCCCCCTTCTCCAG	0.552000														55			18		0	0	0.007413	0	0
DVL1	1855	broad.mit.edu	37	1	1273686	1273686	+	Silent	SNP	G	A	A	rs149343423	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:1273686G>A	uc001aer.4	-	12	1442	c.1395C>T	c.(1393-1395)tcC>tcT	p.S465S	DVL1_uc009vka.3_Silent_p.S148S|DVL1_uc002quu.3_Silent_p.S207S|DVL1_uc001aeu.1_Silent_p.S224S	NM_004421	NP_004412	O14640	DVL1_HUMAN	Homo sapiens dishevelled, dsh homolog 1 (Drosophila) (DVL1), mRNA.	490	DEP.				Wnt receptor signaling pathway, planar cell polarity pathway|canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AGCACTGCTCGGAGAAGGTGA	0.672000														22			15		0	0	0.007413	0	0
CELA3B	23436	broad.mit.edu	37	1	22333383	22333383	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:22333383C>T	uc001bfl.3	+	4	394	c.375C>T	c.(373-375)gcC>gcT	p.A125A		NM_005747	NP_005738	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3A (CELA3A), mRNA.	125	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						ATGACATCGCCCTCATCAAGC	0.622000														63			24		0	0	0.005443	0	0
GRM3	2913	broad.mit.edu	37	7	86415780	86415780	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:86415780G>A	uc003uid.3	+	2	1771	c.672G>A	c.(670-672)gaG>gaA	p.E224E	GRM3_uc010lef.3_Silent_p.E222E|GRM3_uc010leg.3_Silent_p.E96E|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	224					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ATTACGGGGAGACAGGGATCG	0.607000														19			38		0	0	0.005524	0	0
PIK3R2	5296	broad.mit.edu	37	19	18274135	18274135	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:18274135G>T	uc002nia.1	+	10	1865	c.1353G>T	c.(1351-1353)caG>caT	p.Q451H	PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	NM_005027	NP_005018	O00459	P85B_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.	451					T cell costimulation|T cell receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						TCTATCACCAGCAGTACCAGG	0.567000														37			18		1.02788e-11	1.17774e-11	0.004990	1	0
CACNB1	782	broad.mit.edu	37	17	37331907	37331907	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:37331907G>A	uc002hrm.2	-	13	1544	c.1336C>T	c.(1336-1338)Ccc>Tcc	p.P446S	CACNB1_uc002hrl.1_Missense_Mutation_p.P218S	NM_000723	NP_000714	Q02641	CACB1_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 1 subunit (CACNB1), transcript variant 1, mRNA.	446					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	GCAAGGTAGGGTCCCTGGTTA	0.602000														49			11		0	0	0.000978	0	0
SLC38A1	81539	broad.mit.edu	37	12	46598345	46598345	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:46598345G>A	uc009zkj.1	-	9	1360	c.675C>T	c.(673-675)tcC>tcT	p.S225S	SLC38A1_uc001rpb.3_Silent_p.S225S|SLC38A1_uc001rpc.3_Silent_p.S225S|SLC38A1_uc001rpd.3_Silent_p.S225S|SLC38A1_uc001rpe.3_Silent_p.S225S|SLC38A1_uc010slh.2_Silent_p.S198S|SLC38A1_uc001rpa.3_Silent_p.S225S	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	225					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TACAGCTCAAGGAAAATCCAC	0.299000														112			55		0	0	0.003610	0	0
CELA2B	51032	broad.mit.edu	37	1	15808812	15808812	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:15808812G>A	uc001awl.3	+	3	305	c.280G>A	c.(280-282)Gag>Aag	p.E94K		NM_015849	NP_056933	P08218	CEL2B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 2B (CELA2B), mRNA.	94	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						CTACGTTGCAGAGTCCGGCTC	0.592000														56			28		0	0	0.005443	0	0
CACNA1C	775	broad.mit.edu	37	12	2595388	2595388	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:2595388G>A	uc009zdu.1	+	5	1189	c.876G>A	c.(874-876)ggG>ggA	p.G292G	CACNA1C_uc001qkc.2_Silent_p.G292G|CACNA1C_uc001qjz.2_Silent_p.G292G|CACNA1C_uc001qkd.2_Silent_p.G292G|CACNA1C_uc001qke.2_Silent_p.G292G|CACNA1C_uc001qkf.2_Silent_p.G292G|CACNA1C_uc009zdw.1_Silent_p.G292G|CACNA1C_uc001qkg.2_Silent_p.G292G|CACNA1C_uc001qkh.2_Silent_p.G292G|CACNA1C_uc001qkl.2_Silent_p.G292G|CACNA1C_uc001qkj.2_Silent_p.G292G|CACNA1C_uc001qkk.2_Silent_p.G292G|CACNA1C_uc001qkn.2_Silent_p.G292G|CACNA1C_uc001qkm.2_Silent_p.G292G|CACNA1C_uc001qko.2_Silent_p.G292G|CACNA1C_uc001qkp.2_Silent_p.G292G|CACNA1C_uc001qkq.2_Silent_p.G292G|CACNA1C_uc001qku.2_Silent_p.G292G|CACNA1C_uc001qkr.2_Silent_p.G292G|CACNA1C_uc001qks.2_Silent_p.G292G|CACNA1C_uc001qkt.2_Silent_p.G292G|CACNA1C_uc009zdv.1_Silent_p.G292G|CACNA1C_uc001qkb.2_Silent_p.G292G|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Silent_p.G28G	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	292					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)	TCTTCATGGGGAAGATGCACA	0.577000														48			20		0	0	0.010504	0	0
MYOZ1	58529	broad.mit.edu	37	10	75399722	75399722	+	Silent	SNP	C	T	T	rs113054407	by1000genomes	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:75399722C>T	uc001jur.3	-	1	419	c.54G>A	c.(52-54)ctG>ctA	p.L18L		NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN	Homo sapiens myozenin 1 (MYOZ1), mRNA.	18					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					GTTCCATGATCAGCTTGCTGG	0.502000														35			28		0	0	0.006320	0	0
NCKAP5	344148	broad.mit.edu	37	2	133751808	133751808	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:133751808C>T	uc002ttp.3	-	6	720	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	NCKAP5_uc002ttq.3_Missense_Mutation_p.E116K|NCKAP5_uc002tts.1_Missense_Mutation_p.E91K	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	116							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ACTGTTTCTTCCATCCTGAGA	0.343000														8			6		0	0	0.001168	0	0
LIFR	3977	broad.mit.edu	37	5	38481743	38481743	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:38481743C>T	uc010ive.1	-	19	3580	c.3248G>A	c.(3247-3249)gGa>gAa	p.G1083E	LIFR_uc003jli.2_Missense_Mutation_p.G1083E	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	1083					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GGACCACCCTCCTCCATTAGA	0.408000			T	PLAG1	salivary adenoma									80			46		0	0	0.003610	0	0
NAT10	55226	broad.mit.edu	37	11	34158550	34158550	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:34158550C>T	uc001mvk.3	+	20	2432	c.2188C>T	c.(2188-2190)Cct>Tct	p.P730S	NAT10_uc010ren.2_Missense_Mutation_p.P658S	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA.	730	N-acetyltransferase.|Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TGGATTTGTTCCTGTTTATCT	0.512000														37			12		0	0	0.002450	0	0
ITGB3BP	23421	broad.mit.edu	37	1	63920114	63920114	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:63920114G>A	uc001dbb.2	-	6	621	c.481C>T	c.(481-483)Ctc>Ttc	p.L161F	ITGB3BP_uc001dbc.2_Non-coding_Transcript|ITGB3BP_uc001dba.2_Missense_Mutation_p.L122F|ITGB3BP_uc009wak.1_Missense_Mutation_p.L144F	NM_001206739	NP_001193668	Q13352	CENPR_HUMAN	Homo sapiens integrin beta 3 binding protein (beta3-endonexin) (ITGB3BP), transcript variant 1, mRNA.	122					CenH3-containing nucleosome assembly at centromere|apoptosis|cell adhesion|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						ATTCCAATGAGATTTTCAAGC	0.338000														27			10		0	0	0.001855	0	0
MDM1	56890	broad.mit.edu	37	12	68696423	68696423	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:68696423C>G	uc001stz.2	-	11	2085	c.1949G>C	c.(1948-1950)aGa>aCa	p.R650T	MDM1_uc009zqv.1_Missense_Mutation_p.R370T|MDM1_uc010stc.1_Missense_Mutation_p.R615T	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Homo sapiens Mdm1 nuclear protein homolog (mouse) (MDM1), transcript variant 1, mRNA.	650						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CTCTGGATCTCTAAGAGAGCC	0.383000														615			16		0	0	0.006122	0	0
RASSF6	166824	broad.mit.edu	37	4	74442203	74442203	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:74442203G>A	uc003hhd.1	-	9	1081	c.958C>T	c.(958-960)Cac>Tac	p.H320Y	RASSF6_uc003hhc.1_Missense_Mutation_p.H288Y|RASSF6_uc010iik.1_Missense_Mutation_p.H254Y|RASSF6_uc010iil.1_Missense_Mutation_p.H276Y	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.	320	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)			AGAGAAAAGTGAAAGTTAATG	0.348000														9			6		0	0	0.001168	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765850	77765850	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:77765850G>A	uc003yau.2	+	9	7080	c.6693G>A	c.(6691-6693)acG>acA	p.T2231T	ZFHX4_uc003yaw.1_Silent_p.T2186T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2186						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T2215T(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTTCTAGAACGAGATTTACTG	0.383000										HNSCC(33;0.089)				35			21		0	0	0.008871	0	0
DNMBP	23268	broad.mit.edu	37	10	101715817	101715817	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:101715817G>A	uc001kqj.2	-	3	1506	c.1414C>T	c.(1414-1416)Cag>Tag	p.Q472*	DNMBP-AS1_uc001kqk.1_Intron	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	472					intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ACTGGCTTCTGAAGAGTTTTT	0.488000														56			43		0	0	0.002522	0	0
OR2M7	391196	broad.mit.edu	37	1	248487007	248487007	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:248487007G>A	uc010pzk.2	-	0	864	c.864C>T	c.(862-864)ctC>ctT	p.L288L		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCTATAAATGAGAGGATTCA	0.423000														48			12		0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179542396	179542396	+	Nonsense_Mutation	SNP	C	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179542396C>A	uc021vsy.1	-	142	30736	c.30511G>T	c.(30511-30513)Gaa>Taa	p.E10171*	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.E6832*|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11098	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGACTTCTTCTTCAGGTACA	0.443000														49			25		5.45024e-15	6.25676e-15	0.003330	1	0
SPTA1	6708	broad.mit.edu	37	1	158592842	158592842	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:158592842C>G	uc001fst.1	-	42	6250	c.6051G>C	c.(6049-6051)tgG>tgC	p.W2017C		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2017					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R2016H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCAACTGTTCCCAGCGCTTCA	0.478000														173			114		0	0	0.003610	0	0
CA3	761	broad.mit.edu	37	8	86352060	86352060	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:86352060G>A	uc003ydj.3	+	1	237	c.154G>A	c.(154-156)Gat>Aat	p.D52N	CA13_uc003ydf.1_Non-coding_Transcript|CA3_uc011lfv.2_Non-coding_Transcript	NM_005181	NP_005172	P07451	CAH3_HUMAN	Homo sapiens carbonic anhydrase III, muscle specific (CA3), mRNA.	52					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	p.Y51Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGTGTCTTATGATGGTGGCTC	0.463000														46			16		0	0	0.004007	0	0
KL	9365	broad.mit.edu	37	13	33635593	33635593	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:33635593G>A	uc001uus.3	+	3	2385	c.2377G>A	c.(2377-2379)Gaa>Aaa	p.E793K	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	793	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	p.D792D(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CACTGAAGATGAAAAAAAGCT	0.398000														33			18		0	0	0.004990	0	0
GPX5	2880	broad.mit.edu	37	6	28501754	28501755	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:28501754_28501755CC>TT	uc003nll.2	+	4	478_479	c.476_477CC>TT	c.(475-477)ccc>cTT	p.P159L	GPX5_uc003nlm.2_3'UTR|GPX5_uc003nln.2_Non-coding_Transcript	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	159					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity	p.H158N(1)		endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TGTCCTCATCCCTCTGAGATTT	0.455000														137			63		0	0	0.004672	0	0
TACR3	6870	broad.mit.edu	37	4	104511147	104511147	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:104511147G>A	uc003hxe.1	-	4	1231	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	364						integral to plasma membrane	tachykinin receptor activity	p.R364Q(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AAGCCAGCTCGAAATCTGAGG	0.428000														16			7		0	0	0.001984	0	0
KIF2B	84643	broad.mit.edu	37	17	51900977	51900977	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:51900977C>T	uc002iua.2	+	0	739	c.583C>T	c.(583-585)Cgc>Tgc	p.R195C	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	195					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.R195H(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGAAGAGTATCGCAGGCACCT	0.577000														46			14		0	0	0.002450	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069795	114069795	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:114069795G>A	uc003ebi.3	-	3	1310	c.1130C>T	c.(1129-1131)tCg>tTg	p.S377L	ZBTB20_uc003ebj.3_Missense_Mutation_p.S304L|ZBTB20_uc010hqp.3_Missense_Mutation_p.S304L|ZBTB20_uc003ebk.3_Missense_Mutation_p.S304L|ZBTB20_uc003ebl.3_Missense_Mutation_p.S304L|ZBTB20_uc003ebm.3_Missense_Mutation_p.S304L|ZBTB20_uc003ebn.3_Missense_Mutation_p.S304L|ZBTB20-AS1_uc003ebo.2_5'Flank	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCTGACGCCCGAGTCGAAGCT	0.647000														36			12		0	0	0.001368	0	0
MADD	8567	broad.mit.edu	37	11	47306552	47306552	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:47306552C>T	uc001ner.1	+	12	2409	c.2218C>T	c.(2218-2220)Cct>Tct	p.P740S	MADD_uc001neq.2_Missense_Mutation_p.P740S|MADD_uc001nev.1_Missense_Mutation_p.P740S|MADD_uc001nes.1_Missense_Mutation_p.P740S|MADD_uc001net.1_Missense_Mutation_p.P740S|MADD_uc009yln.1_Missense_Mutation_p.P740S|MADD_uc001neu.1_Missense_Mutation_p.P740S|MADD_uc001nez.2_Missense_Mutation_p.P740S|MADD_uc001new.2_Missense_Mutation_p.P740S|MADD_uc001nex.2_Missense_Mutation_p.P740S	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	740					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity	p.P740S(2)|p.P740F(2)|p.P740L(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CAAGCCCCTCCCTTCCGTGCC	0.537000														65			33		0	0	0.002096	0	0
ANKAR	150709	broad.mit.edu	37	2	190593090	190593090	+	Missense_Mutation	SNP	G	A	A	rs139078107	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:190593090G>A	uc002uqw.2	+	13	3063	c.2975G>A	c.(2974-2976)gGa>gAa	p.G992E	ANKAR_uc002uqu.3_Non-coding_Transcript|ANKAR_uc002uqx.2_Non-coding_Transcript|ANKAR_uc002uqy.2_Missense_Mutation_p.G88E	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	992						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GAACAAATTGGATACAGCTTT	0.323000														25			18		0	0	0.001882	0	0
LTF	4057	broad.mit.edu	37	3	46485071	46485071	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:46485071C>T	uc003cpq.3	-	12	1757	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	LTF_uc003fzr.3_Missense_Mutation_p.E462K|LTF_uc010hjh.3_Missense_Mutation_p.E504K|LTF_uc003cpr.3_Missense_Mutation_p.E493K	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	506	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	CTGAAATATTCATCTGGAGAG	0.502000														114			40		0	0	0.003214	0	0
NLRP9	338321	broad.mit.edu	37	19	56244087	56244087	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:56244087G>A	uc002qly.3	-	1	1138	c.1110C>T	c.(1108-1110)tcC>tcT	p.S370S		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	370	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTGTTAAAAAGGATGCATATA	0.438000														77			28		0	0	0.005443	0	0
PEMT	10400	broad.mit.edu	37	17	17425608	17425608	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:17425608G>A	uc002grl.3	-	2	360	c.306C>T	c.(304-306)ttC>ttT	p.F102F	PEMT_uc002grj.3_Silent_p.F65F|PEMT_uc002grk.3_Silent_p.F65F|PEMT_uc010vwx.2_Silent_p.F102F	NM_148172	NP_680478	Q9UBM1	PEMT_HUMAN	Homo sapiens phosphatidylethanolamine N-methyltransferase (PEMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	65					cell proliferation|phosphatidylcholine biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	phosphatidylethanolamine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		GCGAGCGCAGGAAGTTCAGGA	0.622000														26			5		0	0	0.001168	0	0
DSEL	92126	broad.mit.edu	37	18	65180052	65180052	+	Silent	SNP	G	A	A	rs149858062		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:65180052G>A	uc002lke.1	-	1	3048	c.1824C>T	c.(1822-1824)gtC>gtT	p.V608V	DSEL_uc021ulg.1_Silent_p.V608V	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	598						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AGAAGGCACTGACAGAATTTA	0.348000														16			16		0	0	0.004990	0	0
RPL39	6170	broad.mit.edu	37	X	118923942	118923942	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:118923942G>A	uc004erx.1	-	1	103	c.36C>T	c.(34-36)ttC>ttT	p.F12F	SNORA69_uc004ery.1_5'Flank	NM_001000	NP_000991	P62891	RL39_HUMAN	Homo sapiens ribosomal protein L39 (RPL39), mRNA.	12					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome	p.R11R(1)		endometrium(1)|large_intestine(2)	3						TCTTGGCCAGGAATCGCTTAA	0.398000														30			4		0	0	0.000602	0	0
FAM150B	285016	broad.mit.edu	37	2	283168	283168	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:283168T>G	uc002qwi.4	-	4	749	c.396A>C	c.(394-396)aaA>aaC	p.K132N	FAM150B_uc010ewf.1_Missense_Mutation_p.K132N	NM_001002919	NP_001002919	Q6UX46	F150B_HUMAN	Homo sapiens family with sequence similarity 150, member B (FAM150B), mRNA.	132						extracellular region				breast(1)|kidney(2)	3	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.00091)|Epithelial(75;0.00656)|OV - Ovarian serous cystadenocarcinoma(76;0.00954)|GBM - Glioblastoma multiforme(21;0.128)		TGGCGCATCTTTTATAGTCTA	0.408000														27			6		0	0	0.003080	0	0
ELF5	2001	broad.mit.edu	37	11	34502374	34502374	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:34502374C>T	uc001mvo.1	-	5	876	c.646G>A	c.(646-648)Gga>Aga	p.G216R	ELF5_uc021qft.1_Missense_Mutation_p.G138R|ELF5_uc001mvp.2_Missense_Mutation_p.G206R|ELF5_uc009ykd.2_Missense_Mutation_p.G111R	NM_198381	NP_001413	Q9UKW6	ELF5_HUMAN	Homo sapiens E74-like factor 5 (ets domain transcription factor) (ELF5), transcript variant 1, mRNA.	216					cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				TTCCTTTGTCCCCACATCTTT	0.408000														51			14		0	0	0.004007	0	0
DCLK1	9201	broad.mit.edu	37	13	36700119	36700119	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:36700119G>A	uc001uvf.3	-	1	439	c.156C>T	c.(154-156)tcC>tcT	p.S52S		NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	52					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CCTTCTTCTCGGAGCTGAGCG	0.582000														50			12		0	0	0.001368	0	0
FAM47A	158724	broad.mit.edu	37	X	34150261	34150261	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:34150261G>A	uc004ddg.3	-	0	187	c.135C>T	c.(133-135)acC>acT	p.T45T		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	45										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CCCAGTTCTGGGTGTCCATGG	0.577000														23			29		0	0	0.007291	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19412626	19412626	+	RNA	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:19412626C>T	uc010tcj.1	-	0		c.33484G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GATTCAATTTCAGCTTCCAGT	0.363000														39			8		0	0	0.008291	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202749	140202749	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140202749G>A	uc003lhl.2	+	0	1389	c.1389G>A	c.(1387-1389)gtG>gtA	p.V463V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Silent_p.V463V|PCDHAC2_uc003lhj.1_Silent_p.V463V	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	478	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGTGTTCGTGAAGGAGAACA	0.662000														71			26		0	0	0.003954	0	0
SCN5A	6331	broad.mit.edu	37	3	38671874	38671874	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:38671874G>A	uc021wvo.1	-	1	372	c.320C>T	c.(319-321)gCc>gTc	p.A107V	SCN5A_uc021wvk.1_Missense_Mutation_p.A107V|SCN5A_uc021wvl.1_Missense_Mutation_p.A107V|SCN5A_uc021wvm.1_Missense_Mutation_p.A107V|SCN5A_uc021wvn.1_Missense_Mutation_p.A107V|SCN5A_uc021wvp.1_Missense_Mutation_p.A107V|SCN5A_uc021wvq.1_Missense_Mutation_p.A107V|SCN5A_uc021wvr.1_Missense_Mutation_p.A107V|SCN5A_uc021wvs.1_Missense_Mutation_p.A107V|SCN5A_uc021wvt.1_Missense_Mutation_p.A107V|SCN5A_uc021wvu.1_Missense_Mutation_p.A107V|SCN5A_uc021wvv.1_Missense_Mutation_p.A107V	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	107					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGCGTTGGTGGCACTGAACCG	0.512000														89			30		0	0	0.002836	0	0
FAT1	2195	broad.mit.edu	37	4	187549860	187549860	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:187549860A>T	uc003izf.3	-	7	4569	c.4381T>A	c.(4381-4383)Tat>Aat	p.Y1461N		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	1461	Cadherin 13.				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						ACAACTTCATACTTTGATGTA	0.348000										HNSCC(5;0.00058)				31			13		0	0	0.002450	0	0
C6orf58	352999	broad.mit.edu	37	6	127899834	127899834	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:127899834G>A	uc003qbh.3	+	1	317	c.305G>A	c.(304-306)aGa>aAa	p.R102K		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA.	102						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		CCTCCAGGCAGATTAGCTGAT	0.418000														114			37		0	0	0.008740	0	0
FLG2	388698	broad.mit.edu	37	1	152329534	152329535	+	Missense_Mutation	DNP	CC	TT	TT	rs139597182	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:152329534_152329535CC>TT	uc001ezw.4	-	2	800_801	c.727_728GG>AA	c.(727-729)gga>AAa	p.G243K	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	243	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTCTCCAATCCACATGACAGA	0.470000														110			37		0	0	0.004672	0	0
GCKR	2646	broad.mit.edu	37	2	27719829	27719829	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:27719829G>A	uc002rky.3	+	0	124	c.58G>A	c.(58-60)Gag>Aag	p.E20K	FNDC4_uc002rkx.3_5'Flank|GCKR_uc010ezd.3_Missense_Mutation_p.E20K|GCKR_uc010ylu.2_5'UTR	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	20					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TGGCAAGTGGGAGGTGAGACC	0.527000														32			17		0	0	0.010504	0	0
FAM154A	158297	broad.mit.edu	37	9	18928172	18928172	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:18928172C>T	uc003zni.2	-	3	1653	c.1303G>A	c.(1303-1305)Gtg>Atg	p.V435M	FAM154A_uc010mip.2_Missense_Mutation_p.V243M	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	Homo sapiens family with sequence similarity 154, member A (FAM154A), mRNA.	435										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		AAAGCATCCACTTCCTCAAAG	0.507000														34			22		0	0	0.002780	0	0
ZPBP	11055	broad.mit.edu	37	7	49977183	49977183	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:49977183C>T	uc003tou.3	-	7	1067	c.997G>A	c.(997-999)Gga>Aga	p.G333R	ZPBP_uc010kyw.3_Missense_Mutation_p.G332R	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	333					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					CAATGAATTCCATCACGGGGG	0.353000														84			26		0	0	0.002836	0	0
NTSR1	4923	broad.mit.edu	37	20	61340633	61340633	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:61340633G>A	uc002ydf.3	+	0	445	c.74G>A	c.(73-75)gGa>gAa	p.G25E		NM_002531	NP_002522	P30989	NTR1_HUMAN	Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.	25						Golgi apparatus|endoplasmic reticulum|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCGCAGGCCGGACTGGAGGAG	0.751000														6			3		0	0	0.004672	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566737	45566737	+	Silent	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:45566737A>G	uc010dnv.3	-	2	1244	c.808T>C	c.(808-810)Ttg>Ctg	p.L270L	ZBTB7C_uc002ldb.3_Silent_p.L248L|ZBTB7C_uc010dnu.3_Silent_p.L257L|ZBTB7C_uc010dnw.3_Silent_p.L248L|ZBTB7C_uc010dnx.1_Silent_p.L248L|ZBTB7C_uc010dny.1_Silent_p.L248L|ZBTB7C_uc010dnz.1_Silent_p.L270L|ZBTB7C_uc010doi.1_Silent_p.L248L|ZBTB7C_uc010doj.1_Silent_p.L257L|ZBTB7C_uc010dok.1_Silent_p.L297L|ZBTB7C_uc010dol.1_Silent_p.L257L|ZBTB7C_uc010doa.1_Silent_p.L270L|ZBTB7C_uc010dob.1_Silent_p.L248L|ZBTB7C_uc010doc.1_Silent_p.L257L|ZBTB7C_uc010dod.1_Silent_p.L270L|ZBTB7C_uc010doe.1_Silent_p.L248L|ZBTB7C_uc010dof.1_Silent_p.L248L|ZBTB7C_uc010dog.1_Silent_p.L248L|ZBTB7C_uc010doh.1_Silent_p.L257L|ZBTB7C_uc010dom.1_Silent_p.L257L|ZBTB7C_uc010don.1_Silent_p.L256L|ZBTB7C_uc010dop.1_Silent_p.L248L|ZBTB7C_uc010doq.1_Silent_p.L257L|ZBTB7C_uc010dor.1_Silent_p.L270L|ZBTB7C_uc010dos.1_Silent_p.L248L|ZBTB7C_uc010dot.1_Silent_p.L248L|ZBTB7C_uc010doo.1_Silent_p.L248L|ZBTB7C_uc010dou.1_Silent_p.L257L	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	248						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AATGGAGACAAGGAGGGTCTC	0.612000														24			9		0	0	0.004482	0	0
EMB	133418	broad.mit.edu	37	5	49699028	49699028	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:49699028C>T	uc003jom.3	-	5	1110	c.861G>A	c.(859-861)aaG>aaA	p.K287K	EMB_uc010ivq.3_Silent_p.K81K|EMB_uc003jol.3_Silent_p.K218K|EMB_uc011cpy.2_Silent_p.K237K	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	287						integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				GCTTCTTTTTCTTTTGTGTGT	0.328000														27			9		0	0	0.008291	0	0
COL3A1	1281	broad.mit.edu	37	2	189867065	189867065	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:189867065C>T	uc002uqj.1	+	34	2550	c.2433C>T	c.(2431-2433)ttC>ttT	p.F811F		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	811	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			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)	CTGCTGGTTTCCCTGGTGCTC	0.438000														40			18		0	0	0.010504	0	0
ITSN1	6453	broad.mit.edu	37	21	35122567	35122567	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:35122567C>T	uc002yta.1	+	5	734	c.466C>T	c.(466-468)Ccc>Tcc	p.P156S	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Missense_Mutation_p.P40S|ITSN1_uc002ysy.3_Missense_Mutation_p.P156S|ITSN1_uc002ysx.3_Missense_Mutation_p.P119S|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Missense_Mutation_p.P156S|ITSN1_uc010gmg.3_Missense_Mutation_p.P119S|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Missense_Mutation_p.P156S|ITSN1_uc010gmi.3_Missense_Mutation_p.P119S|ITSN1_uc002ytb.1_Missense_Mutation_p.P156S|ITSN1_uc002ytc.1_Missense_Mutation_p.P156S|ITSN1_uc010gmk.3_Missense_Mutation_p.P119S|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Missense_Mutation_p.P156S|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_Missense_Mutation_p.P90S|ITSN1_uc021wip.1_Missense_Mutation_p.P50S	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	156					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCAGCTGTGCCCCCCCTGGC	0.522000														73			26		0	0	0.008361	0	0
GLI2	2736	broad.mit.edu	37	2	121745958	121745958	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:121745958C>T	uc010flp.3	+	12	2498	c.2468C>T	c.(2467-2469)tCc>tTc	p.S823F	GLI2_uc002tmq.1_Missense_Mutation_p.S495F|GLI2_uc002tmr.1_Missense_Mutation_p.S478F|GLI2_uc002tmt.4_Missense_Mutation_p.S495F|GLI2_uc002tmu.4_Missense_Mutation_p.S478F	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	823	Ser-rich.				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGCCGCCGCTCCTCCGGCATC	0.721000														5			3		0	0	0.004672	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140772779	140772779	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140772779C>T	uc003lkd.2	+	0	1297	c.399C>T	c.(397-399)ttC>ttT	p.F133F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Silent_p.F133F|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	133	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCAAAATTCCAGGTCGAAG	0.423000														59			23		0	0	0.002780	0	0
SYMPK	8189	broad.mit.edu	37	19	46319823	46319823	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:46319823G>A	uc002pdn.3	-	24	3516	c.3271C>T	c.(3271-3273)Cct>Tct	p.P1091S	RSPH6A_uc002pdm.3_5'Flank	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	1091					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ATGGAGTTAGGGATGTGAGCT	0.667000														37			11		0	0	0.001368	0	0
CNGA2	1260	broad.mit.edu	37	X	150909283	150909283	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:150909283T>C	uc004fey.1	+	4	616	c.392T>C	c.(391-393)tTt>tCt	p.F131S		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	131					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGAACTATTTGTCTTGGAC	0.532000														37			65		0	0	0.003610	0	0
AKAP3	10566	broad.mit.edu	37	12	4725009	4725009	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:4725009C>T	uc001qnb.4	-	4	2702	c.2458G>A	c.(2458-2460)Gtt>Att	p.V820I		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	820					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GACTGCAGAACCTCGCCCACA	0.567000														77			33		0	0	0.004289	0	0
TTN	7273	broad.mit.edu	37	2	179433173	179433173	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179433173C>T	uc021vsy.1	-	274	70207	c.69982G>A	c.(69982-69984)Gga>Aga	p.G23328R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G17023R|TTN_uc021vta.1_Missense_Mutation_p.G16956R|TTN_uc021vtb.1_Missense_Mutation_p.G16831R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24255	Fibronectin type-III 69.						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)			TTAACAGGTCCTTTTGGAGGA	0.408000														33			10		0	0	0.006214	0	0
ADCY4	196883	broad.mit.edu	37	14	24787879	24787879	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:24787879C>T	uc001wow.3	-	23	3481	c.3062G>A	c.(3061-3063)gGa>gAa	p.G1021E	ADCY4_uc010toh.2_Missense_Mutation_p.G707E|ADCY4_uc001wox.3_Missense_Mutation_p.G1021E|ADCY4_uc001woy.3_Missense_Mutation_p.G1021E	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	1021					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GCCAAGGACTCCTGTACTCTC	0.552000														42			33		0	0	0.003271	0	0
PDE6B	5158	broad.mit.edu	37	4	650789	650789	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:650789G>A	uc003gap.3	+	8	1287	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	PDE6B_uc003gao.4_Missense_Mutation_p.E412K|PDE6B_uc011buy.2_Missense_Mutation_p.E133K|BC020343_uc003gaq.1_5'Flank	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	412	GAF 2.				GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.E412D(1)		NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GCCCTTTGACGAACAGGACGA	0.597000														32			17		0	0	0.008871	0	0
DIO2	1734	broad.mit.edu	37	14	80669341	80669341	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:80669341C>T	uc021rxa.1	-	2	674	c.621G>A	c.(619-621)gcG>gcA	p.A207A	DIO2_uc001xut.3_3'UTR|DIO2_uc010asx.3_3'UTR|DIO2_uc021rxb.1_Silent_p.A171A|DIO2_uc010asy.3_Silent_p.A171A	NM_001007023		Q92813	IOD2_HUMAN	Homo sapiens deiodinase, iodothyronine, type II (DIO2), transcript variant 3, mRNA.	171					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CCCCCGGTATCGCCCAGCCAT	0.557000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		44			28		0	0	0.009535	0	0
KRTAP5-6	440023	broad.mit.edu	37	11	1718666	1718666	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:1718666G>A	uc001lua.3	+	0	242	c.191G>A	c.(190-192)gGg>gAg	p.G64E	MOB2_uc001ltq.2_Intron	NM_001012416	NP_001012416	Q6L8G9	KRA56_HUMAN	Homo sapiens keratin associated protein 5-6 (KRTAP5-6), mRNA.	64	6 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGCTCTTGTGGGGGCTCCAAA	0.642000														105			56		0	0	0.003610	0	0
IMPG1	3617	broad.mit.edu	37	6	76751728	76751728	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:76751728G>A	uc003pik.1	-	1	313	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	61					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.F61F(2)|p.F61L(2)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTGCCAAATCGAATATTCGTC	0.368000														96			39		0	0	0.004289	0	0
CNTN4	152330	broad.mit.edu	37	3	2928802	2928802	+	Silent	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:2928802A>G	uc003bpc.3	+	9	1173	c.834A>G	c.(832-834)ggA>ggG	p.G278G	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Silent_p.G278G|CNTN4_uc003bpd.1_Silent_p.G278G	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	278	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGTCAAATGGAATTCTTGAGA	0.408000														25			16		0	0	0.004990	0	0
CLGN	1047	broad.mit.edu	37	4	141327157	141327157	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:141327157G>A	uc011chi.2	-	5	576	c.358C>T	c.(358-360)Cat>Tat	p.H120Y	CLGN_uc003iii.3_Missense_Mutation_p.H120Y	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	120					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					GATATTGCATGATGCTTTGCT	0.338000														32			10		0	0	0.008291	0	0
ASXL2	55252	broad.mit.edu	37	2	25966191	25966191	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:25966191C>T	uc002rgs.2	-	11	3236	c.3015G>A	c.(3013-3015)gaG>gaA	p.E1005E	ASXL2_uc002rgt.1_Intron	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	1005					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTAACTTCCTCTCTGGTGC	0.507000														31			15		0	0	0.003163	0	0
PPID	5481	broad.mit.edu	37	4	159638288	159638288	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:159638288A>G	uc003iqc.3	-	3	510	c.398T>C	c.(397-399)tTt>tCt	p.F133S		NM_005038	NP_005029	Q08752	PPID_HUMAN	Homo sapiens peptidylprolyl isomerase D (PPID), mRNA.	133	PPIase cyclophilin-type.				protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		TGTTGTGATAAAAAACTGAGA	0.403000														34			17		0	0	0.004990	0	0
LRPPRC	10128	broad.mit.edu	37	2	44200775	44200775	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:44200775A>G	uc002rtr.2	-	10	1398	c.1340T>C	c.(1339-1341)gTt>gCt	p.V447A	LRPPRC_uc010yob.1_Missense_Mutation_p.V347A	NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	447					mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	RNA binding|beta-tubulin binding|microtubule binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CCGACGTCCAACTAGCAATGG	0.403000														313			148		0	0	0.003610	0	0
S100A9	6280	broad.mit.edu	37	1	153333238	153333238	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:153333238C>T	uc001fbq.3	+	2	312	c.269C>T	c.(268-270)tCc>tTc	p.S90F		NM_002965	NP_002956	P06702	S10A9_HUMAN	Homo sapiens S100 calcium binding protein A9 (S100A9), mRNA.	90					cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCTGGGCCTCCCACGAGAAG	0.582000														22			13		0	0	0.001855	0	0
FOXN4	121643	broad.mit.edu	37	12	109719441	109719441	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:109719441G>A	uc001toe.4	-	8	1170	c.1065C>T	c.(1063-1065)tcC>tcT	p.S355S	FOXN4_uc009zvg.3_Silent_p.S152S|FOXN4_uc001tof.4_Silent_p.S175S	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	Homo sapiens forkhead box N4 (FOXN4), mRNA.	355					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(5)|lung(9)|ovary(2)	16						CTGACTGCAGGGACAGGGTCA	0.687000														10			4		0	0	0.009096	0	0
GPR132	29933	broad.mit.edu	37	14	105518000	105518000	+	Silent	SNP	G	A	A	rs148183695		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:105518000G>A	uc001yqd.3	-	3	1373	c.474C>T	c.(472-474)acC>acT	p.T158T	GPR132_uc001yqc.3_5'UTR|GPR132_uc001yqe.3_Silent_p.T149T	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	Homo sapiens G protein-coupled receptor 132 (GPR132), mRNA.	158					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		TGAGGATGGCGGTCCTCCGGC	0.617000														37			18		0	0	0.007413	0	0
MPP7	143098	broad.mit.edu	37	10	28348640	28348640	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:28348640C>T	uc001iua.1	-	15	1641	c.1237G>A	c.(1237-1239)Gat>Aat	p.D413N	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.D413N|MPP7_uc009xla.2_Missense_Mutation_p.D413N|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	413	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCAACACCATCACTCTCCTGG	0.343000														43			13		0	0	0.001855	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519998	113519998	+	Silent	SNP	G	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:113519998G>T	uc010ljy.1	-	3	1180	c.1149C>A	c.(1147-1149)tcC>tcA	p.S383S		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	383					glycogen metabolic process	integral to membrane		p.S383S(4)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTCCCTTTACGGAGCTTTCTG	0.398000														161			51		4.0306e-16	4.63234e-16	0.003610	1	0
CTAGE6P	340307	broad.mit.edu	37	7	143453539	143453539	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:143453539C>T	uc003wdk.4	-	0	1305	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	FAM115C_uc011ktn.1_Intron|FAM115C_uc011kto.2_Intron|FAM115C_uc011ktp.2_Intron|FAM115C_uc011ktq.1_Intron|FAM115C_uc011ktr.1_Intron|FAM115C_uc011kts.1_Intron|FAM115C_uc003wdj.1_Intron	NM_178561	NP_848656	Q86UF2	CTGE6_HUMAN	Homo sapiens CTAGE family, member 6, pseudogene (CTAGE6P), mRNA.	405						integral to membrane											TAATTTTCCTCCACTGTTAAT	0.363000														145			40		0	0	0.006999	0	0
TRIML1	339976	broad.mit.edu	37	4	189063546	189063546	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:189063546G>A	uc003izm.1	+	2	760	c.645G>A	c.(643-645)gaG>gaA	p.E215E	TRIML1_uc003izn.1_5'Flank	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	215					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GGAACAATGAGATCAAACTGA	0.448000														31			22		0	0	0.002780	0	0
CYP4X1	260293	broad.mit.edu	37	1	47514275	47514275	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:47514275A>C	uc001cqt.3	+	9	1496	c.1246A>C	c.(1246-1248)Aac>Cac	p.N416H	CYP4X1_uc001cqr.3_Missense_Mutation_p.N415H|CYP4X1_uc001cqs.3_Missense_Mutation_p.N351H	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	416						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TCTTCACCACAACCCTGCTGT	0.433000														180			74		0	0	0.003610	0	0
FBN3	84467	broad.mit.edu	37	19	8175972	8175973	+	Missense_Mutation	DNP	CA	AG	AG			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:8175972_8175973CA>AG	uc002mjf.3	-	31	4196_4197	c.4179_4180TG>CT	c.(4177-4182)tttgac>ttCTac	p.D1394Y		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1394	EGF-like 21; 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						TCGGTGGGGTCAAAGCCCATCT	0.653000														26			8		0	0	0.004672	0	0
PDC	5132	broad.mit.edu	37	1	186415681	186415681	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:186415681T>A	uc001gsa.3	-	2	163	c.90A>T	c.(88-90)agA>agT	p.R30S	MIR548F1_uc021pgf.1_Intron|PDC_uc001grz.3_5'UTR	NM_002597	NP_072098	P20941	PHOS_HUMAN	Homo sapiens phosducin (PDC), transcript variant 1, mRNA.	30					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		ATTTAAACTTTCTCCAATCAT	0.333000														45			12		0	0	0.002450	0	0
TAF6	6878	broad.mit.edu	37	7	99708829	99708829	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:99708829T>C	uc003uth.3	-	8	1324	c.1187A>G	c.(1186-1188)cAg>cGg	p.Q396R	TAF6_uc003utg.3_Missense_Mutation_p.Q261R|TAF6_uc003utm.3_Missense_Mutation_p.Q339R|TAF6_uc003uti.3_Missense_Mutation_p.Q339R|TAF6_uc003utk.3_Missense_Mutation_p.Q339R|TAF6_uc011kji.2_Missense_Mutation_p.Q376R	NM_139315	NP_647476	P49848	TAF6_HUMAN	Homo sapiens TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa (TAF6), transcript variant 2, mRNA.	339					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTGCAGATCTGGGCCACCAG	0.542000														40			100		0	0	0.003610	0	0
DERL1	79139	broad.mit.edu	37	8	124033698	124033698	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:124033698G>A	uc003ypl.2	-	5	781	c.495C>T	c.(493-495)atC>atT	p.I165I	DERL1_uc003ypm.2_Silent_p.I165I|DERL1_uc011lif.1_Silent_p.I65I|DERL1_uc003ypn.2_Silent_p.I165I	NM_024295	NP_077271	Q9BUN8	DERL1_HUMAN	Homo sapiens Der1-like domain family, member 1 (DERL1), transcript variant 1, mRNA.	165					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AGCCTCCGATGATATAGTTGA	0.363000														68			28		0	0	0.009535	0	0
MB21D1	115004	broad.mit.edu	37	6	74155401	74155401	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:74155401A>T	uc003pgx.1	-	1	866	c.727T>A	c.(727-729)Tcc>Acc	p.S243T		NM_138441	NP_612450	Q8N884	M21D1_HUMAN	Homo sapiens Mab-21 domain containing 1 (MB21D1), mRNA.	243										central_nervous_system(1)|large_intestine(4)|lung(1)	6						CGAGTGTTGGAATATTCTTCT	0.308000														44			18		0	0	0.001882	0	0
MUC6	4588	broad.mit.edu	37	11	1016670	1016670	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:1016670C>T	uc001lsw.2	-	30	6182	c.6131G>A	c.(6130-6132)gGc>gAc	p.G2044D		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	2044	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGAACGGTGCCTGTTGGCGT	0.572000														583			38		0	0	0.005524	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883177	228883177	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:228883177C>T	uc002vpq.2	-	6	2440	c.2393G>A	c.(2392-2394)gGt>gAt	p.G798D	SPHKAP_uc002vpp.2_Missense_Mutation_p.G798D|SPHKAP_uc010zlx.1_Missense_Mutation_p.G798D	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	798						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCTCACTCCACCCTTGTCTTG	0.488000														120			37		0	0	0.009718	0	0
ATP10A	57194	broad.mit.edu	37	15	25966939	25966940	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:25966939_25966940GG>AA	uc010ayu.3	-	6	1333_1334	c.1227_1228CC>TT	c.(1225-1230)tgccga>tgTTga	p.R410*		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	410					ATP biosynthetic process|regulation of cell shape	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(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TTCAGAGCTCGGCACTGCAGCT	0.421000														78			22		0	0	0.004672	0	0
COL1A1	1277	broad.mit.edu	37	17	48266114	48266114	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:48266114G>A	uc002iqm.3	-	41	3214	c.3088C>T	c.(3088-3090)Cct>Tct	p.P1030S		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	1030	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TTGGCGCCAGGAGAACCGTCT	0.622000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							42			35		0	0	0.005524	0	0
C15orf2	23742	broad.mit.edu	37	15	24923425	24923425	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:24923425C>T	uc001ywo.3	+	0	2885	c.2411C>T	c.(2410-2412)tCc>tTc	p.S804F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	804					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCAGACACCTCCACTTTAGTG	0.532000														77			52		0	0	0.003610	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77465339	77465339	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:77465339C>T	uc002ffc.4	-	2	767	c.348G>A	c.(346-348)gcG>gcA	p.A116A	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	116					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S115L(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGCTCAAAATCGCCGAGGGCT	0.483000														54			68		0	0	0.003610	0	0
OR10A7	121364	broad.mit.edu	37	12	55615172	55615172	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:55615172C>T	uc010spf.2	+	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122H(1)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						GGCTTATGATCGCTTTGTGGC	0.448000														70			41		0	0	0.006230	0	0
AMBRA1	55626	broad.mit.edu	37	11	46567280	46567280	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:46567280G>A	uc001ncv.2	-	4	739	c.425C>T	c.(424-426)tCc>tTc	p.S142F	AMBRA1_uc010rgt.1_5'Flank|AMBRA1_uc009ylc.1_Missense_Mutation_p.S142F|AMBRA1_uc001ncu.1_Missense_Mutation_p.S142F|AMBRA1_uc010rgu.1_Missense_Mutation_p.S142F|AMBRA1_uc001ncw.2_Missense_Mutation_p.S142F|AMBRA1_uc001ncx.2_Missense_Mutation_p.S142F	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	142					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GAAAGCCAGGGAGGCAATGGC	0.527000														44			23		0	0	0.002780	0	0
CEP350	9857	broad.mit.edu	37	1	180031385	180031385	+	Nonsense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:180031385A>T	uc001gnt.3	+	25	5676	c.5293A>T	c.(5293-5295)Aag>Tag	p.K1765*	CEP350_uc009wxl.2_Nonsense_Mutation_p.K1764*	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	1765						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGAAGCCAATAAGGCAGCTCG	0.388000														13			4		0	0	0.000602	0	0
QTRTD1	79691	broad.mit.edu	37	3	113795694	113795694	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:113795694C>T	uc003eaz.3	+	5	773	c.687C>T	c.(685-687)ttC>ttT	p.F229F	QTRTD1_uc003eay.3_Silent_p.F217F|QTRTD1_uc011biq.2_Silent_p.F94F|QTRTD1_uc011bir.2_Silent_p.F111F|QTRTD1_uc003eba.3_Silent_p.F94F	NM_024638	NP_078914	Q9H974	QTRD1_HUMAN	Homo sapiens queuine tRNA-ribosyltransferase domain containing 1 (QTRTD1), mRNA.	217					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						TGGGTGGCTTCCTTCTGGATG	0.537000														55			30		0	0	0.002096	0	0
TMC3	342125	broad.mit.edu	37	15	81627135	81627135	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:81627135C>T	uc021ssk.1	-	20	2385	c.2385G>A	c.(2383-2385)ccG>ccA	p.P795P	TMC3_uc021ssj.1_3'UTR|TMC3_uc010blr.1_Non-coding_Transcript	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	795						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CCCCTGGCCTCGGGCTCTGGG	0.592000														90			19		0	0	0.008871	0	0
CPN2	1370	broad.mit.edu	37	3	194063251	194063251	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:194063251A>G	uc003fts.3	-	1	271	c.181T>C	c.(181-183)Ttc>Ctc	p.F61L	CPN2_uc021xix.1_Missense_Mutation_p.F61L	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	61					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		AATGTGGTGAACGAGGTCTCC	0.532000														74			25		0	0	0.007291	0	0
XYLT1	64131	broad.mit.edu	37	16	17221565	17221565	+	Silent	SNP	G	A	A	rs112238716		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:17221565G>A	uc002dfa.3	-	9	2266	c.2181C>T	c.(2179-2181)atC>atT	p.I727I		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	727					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTGGGCTTGCGATCTTGAAGA	0.493000														64			69		0	0	0.003610	0	0
S100Z	170591	broad.mit.edu	37	5	76173556	76173556	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:76173556G>A	uc003kep.1	+	3	529	c.199G>A	c.(199-201)Gac>Aac	p.D67N	S100Z_uc003keq.4_Missense_Mutation_p.D67N	NM_130772	NP_570128	Q8WXG8	S100Z_HUMAN	Homo sapiens S100 calcium binding protein Z (S100Z), mRNA.	67	EF-hand 2.						calcium ion binding			large_intestine(1)|ovary(1)	2		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)		TGCCAATAAGGACAACGAAGT	0.398000														323			163		0	0	0.003610	0	0
NFE2	4778	broad.mit.edu	37	12	54686780	54686780	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:54686780C>T	uc009znk.3	-	1	1010	c.500G>A	c.(499-501)cGg>cAg	p.R167Q	NFE2_uc001sfq.3_Missense_Mutation_p.R167Q|NFE2_uc001sfr.4_Missense_Mutation_p.R167Q|NFE2_uc009znl.3_Missense_Mutation_p.R167Q	NM_006163	NP_006154	Q16621	NFE2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2), 45kDa (NFE2), transcript variant 1, mRNA.	167	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	PML body|actin cytoskeleton|cytoplasm	WW domain binding|protein N-terminus binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GCTGCGCCGCCGACCAGCCTC	0.557000														97			33		0	0	0.003271	0	0
NAV1	89796	broad.mit.edu	37	1	201751934	201751934	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:201751934C>T	uc021phi.1	+	5	2641	c.2294C>T	c.(2293-2295)cCc>cTc	p.P765L	NAV1_uc001gwu.3_Missense_Mutation_p.P765L|NAV1_uc001gwv.1_Missense_Mutation_p.P273L|NAV1_uc001gww.2_Missense_Mutation_p.P374L|NAV1_uc001gwx.3_Missense_Mutation_p.P374L|NAV1_uc001gwy.1_Missense_Mutation_p.P146L	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	765					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GAAAGTACTCCCAAGAACCAA	0.557000														37			7		0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	9082363	9082363	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9082363G>A	uc002mkp.3	-	0	9656	c.9452C>T	c.(9451-9453)cCt>cTt	p.P3151L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3152	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P3151P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTCTTGGCAGGAACTGAAAT	0.443000														46			22		0	0	0.002780	0	0
PCLO	27445	broad.mit.edu	37	7	82578962	82578962	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:82578962G>A	uc003uhx.2	-	5	11231	c.10942C>T	c.(10942-10944)Cct>Tct	p.P3648S	PCLO_uc003uhv.2_Missense_Mutation_p.P3648S|PCLO_uc010lec.3_Missense_Mutation_p.P613S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3579					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.L3647I(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATATCATCAGGGAGGGGTTTT	0.468000														80			117		0	0	0.003610	0	0
STT3A	3703	broad.mit.edu	37	11	125478009	125478009	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:125478009C>T	uc001qcd.2	+	8	896	c.786C>T	c.(784-786)gtC>gtT	p.V262V	STT3A_uc009zbm.2_Silent_p.V262V|STT3A_uc001qce.2_Silent_p.V262V|STT3A_uc010sbg.1_Silent_p.V170V|STT3A_uc009zbn.2_Silent_p.V36V	NM_152713	NP_689926	P46977	STT3A_HUMAN	Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) (STT3A), mRNA.	262					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TACAGCCTGTCCTTTCATCAG	0.423000														123			54		0	0	0.003610	0	0
TELO2	9894	broad.mit.edu	37	16	1557342	1557342	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:1557342C>T	uc002cly.3	+	18	2553	c.2262C>T	c.(2260-2262)ttC>ttT	p.F754F		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA.	754						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TGCTGGAATTCGTGTGGGCCC	0.672000														17			9		0	0	0.006214	0	0
MIB2	142678	broad.mit.edu	37	1	1559297	1559297	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:1559297G>A	uc001agg.3	+	3	781	c.736G>A	c.(736-738)Gac>Aac	p.D246N	MIB2_uc001agh.3_Missense_Mutation_p.D232N|MIB2_uc001agi.3_Missense_Mutation_p.D246N|MIB2_uc001agj.3_Missense_Mutation_p.D30N|MIB2_uc001agk.3_Missense_Mutation_p.D246N|MIB2_uc001agl.2_Missense_Mutation_p.D145N|MIB2_uc001agm.3_Missense_Mutation_p.D131N|MIB2_uc010nyq.2_Missense_Mutation_p.D145N|MIB2_uc009vkh.3_Missense_Mutation_p.D30N|MIB2_uc001agn.3_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	189	MIB/HERC2 2.				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCACGCCTTCGACCGCTACGA	0.692000														22			9		0	0	0.008291	0	0
MRPL1	65008	broad.mit.edu	37	4	78804427	78804427	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:78804427G>A	uc003hku.2	+	2	373	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K		NM_020236	NP_064621	Q9BYD6	RM01_HUMAN	Homo sapiens mitochondrial ribosomal protein L1 (MRPL1), nuclear gene encoding mitochondrial protein, mRNA.	59							RNA binding	p.K58T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						AGGTGCTAAAGAAAAAACACC	0.279000														7			6		0	0	0.001168	0	0
ELFN2	114794	broad.mit.edu	37	22	37770941	37770941	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:37770941G>A	uc003asq.4	-	2	1420	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	ELFN2_uc021wph.1_Missense_Mutation_p.R212C	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	212	LRRCT.					cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CACTGCAGGCGGTCGTAGTTC	0.637000														25			8		0	0	0.003080	0	0
SLC9C2	284525	broad.mit.edu	37	1	173494046	173494046	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:173494046G>A	uc001giz.2	-	19	2809	c.2386C>T	c.(2386-2388)Cgt>Tgt	p.R796C	SLC9C2_uc009wwe.2_Missense_Mutation_p.R354C|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	796					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ACAACATCACGACCCTCATGC	0.348000														37			20		0	0	0.002299	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110464385	110464385	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:110464385C>T	uc003yne.3	+	41	6487	c.6383C>T	c.(6382-6384)gCt>gTt	p.A2128V		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2128	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)			ATCACCATAGCTGAAGCCAAA	0.398000										HNSCC(38;0.096)				33			11		0	0	0.000978	0	0
CYP4A11	1579	broad.mit.edu	37	1	47395934	47395934	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:47395934C>T	uc001cqp.4	-	11	1464	c.1413G>A	c.(1411-1413)acG>acA	p.T471T		NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	471					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GGGTCAGGGCCGTGGCCACCT	0.542000														74			34		0	0	0.004878	0	0
JARID2	3720	broad.mit.edu	37	6	15468907	15468907	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:15468907C>A	uc003nbj.3	+	4	872	c.628C>A	c.(628-630)Ccc>Acc	p.P210T	JARID2_uc011diu.1_Missense_Mutation_p.P74T|JARID2_uc011div.2_Missense_Mutation_p.P38T|JARID2_uc011diw.1_Missense_Mutation_p.P172T	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	210					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CCAGTCGACCCCCAGGAAAGG	0.478000														49			26		2.65835e-16	3.05639e-16	0.007291	1	0
B3GAT1	27087	broad.mit.edu	37	11	134257550	134257550	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:134257550G>A	uc001qhq.3	-	2	265	c.4C>T	c.(4-6)Ccg>Tcg	p.P2S	B3GAT1_uc001qhr.3_Missense_Mutation_p.P2S|B3GAT1_uc010scv.1_Missense_Mutation_p.P15S	NM_018644	NP_473366	Q9P2W7	B3GA1_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) (B3GAT1), transcript variant 1, mRNA.	2					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CGTCTCTTCGGCATCTCCAAG	0.642000														24			12		0	0	0.000978	0	0
ZNF707	286075	broad.mit.edu	37	8	144773287	144773287	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:144773287G>A	uc003yze.4	+	4	375	c.60G>A	c.(58-60)gaG>gaA	p.E20E	ZNF707_uc010mfh.3_Silent_p.E20E|ZNF707_uc010mfi.3_Silent_p.E20E|ZNF707_uc003yzf.4_Silent_p.E20E|ZNF707_uc003yzh.4_5'UTR|ZNF707_uc011lkq.1_Intron	NM_173831	NP_776192	Q96C28	ZN707_HUMAN	Homo sapiens zinc finger protein 707 (ZNF707), transcript variant 1, mRNA.	20	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCTCAAGGGAGGAGTGGGCGT	0.607000														28			4		0	0	0.009096	0	0
STRA8	346673	broad.mit.edu	37	7	134925449	134925449	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:134925449C>T	uc011kpx.2	+	1	239	c.239C>T	c.(238-240)tCt>tTt	p.S80F		NM_182489	NP_872295	Q7Z7C7	STRA8_HUMAN	Homo sapiens stimulated by retinoic acid gene 8 homolog (mouse) (STRA8), mRNA.	80					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						TACTCTCAGTCTGATCTCATA	0.602000														37			69		0	0	0.003610	0	0
POTEE	445582	broad.mit.edu	37	2	131985849	131985849	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:131985849C>T	uc002tsn.2	+	4	1002	c.950C>T	c.(949-951)tCa>tTa	p.S317L	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.	317							ATP binding										TGTTGTGGATCAGCAAGTATA	0.358000														67			26		0	0	0.002836	0	0
CFB	629	broad.mit.edu	37	6	31896606	31896606	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:31896606G>A	uc003nyf.3	+	2	618	c.354G>A	c.(352-354)gaG>gaA	p.E118E	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Silent_p.E118E|CFB_uc010jtk.3_Intron|CFB_uc011doq.2_Silent_p.E89E|CFB_uc011dor.2_Intron	NM_000063	NP_000054	P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 1, mRNA.	132	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TCGAGTGTGAGGATGGCTTCA	0.577000														295			130		0	0	0.003610	0	0
MRPL28	10573	broad.mit.edu	37	16	418546	418546	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:418546G>A	uc002cgs.2	-	3	609	c.531C>T	c.(529-531)caC>caT	p.H177H		NM_006428	NP_006419	Q13084	RM28_HUMAN	Homo sapiens mitochondrial ribosomal protein L28 (MRPL28), nuclear gene encoding mitochondrial protein, mRNA.	177					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				GGTCCTCGGGGTGCAGCTGGG	0.677000														31			19		0	0	0.008871	0	0
RPL22	6146	broad.mit.edu	37	1	6253107	6253107	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:6253107A>G	uc001amd.3	-	2	171	c.125T>C	c.(124-126)tTt>tCt	p.F42S	RPL22_uc001ame.3_Missense_Mutation_p.F42S	NM_000983	NP_000974	P35268	RL22_HUMAN	Homo sapiens ribosomal protein L22 (RPL22), mRNA.	42					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|heparin binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		TTCTTGCAAAAACTGCTCCTG	0.423000			T	RUNX1	"""AML, CML"""									52			17		0	0	0.006122	0	0
FAM91A1	157769	broad.mit.edu	37	8	124797890	124797890	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:124797890C>T	uc003yqv.3	+	10	932	c.871C>T	c.(871-873)Cga>Tga	p.R291*	FAM91A1_uc011lik.1_Nonsense_Mutation_p.R291*|FAM91A1_uc011lil.2_Nonsense_Mutation_p.R49*	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	Homo sapiens family with sequence similarity 91, member A1 (FAM91A1), mRNA.	291										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			AATGTATTGCCGATTGGGCTT	0.308000														51			19		0	0	0.003330	0	0
ADCY8	114	broad.mit.edu	37	8	131880139	131880139	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:131880139G>A	uc003ytd.4	-	8	2419	c.2163C>T	c.(2161-2163)atC>atT	p.I721I	ADCY8_uc010mds.3_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	721					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATAGAAGAACGATAAATGCAC	0.348000										HNSCC(32;0.087)				43			20		0	0	0.002299	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596353	24596353	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:24596353C>T	uc011djo.2	-	2	1049	c.549G>A	c.(547-549)acG>acA	p.T183T	KIAA0319_uc011djp.2_Silent_p.T138T|KIAA0319_uc003neh.1_Silent_p.T183T|KIAA0319_uc011djq.1_Silent_p.T174T|KIAA0319_uc011djr.1_Silent_p.T183T	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	183					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GGCCCCAGTCCGTGTACTCGG	0.617000														22			10		0	0	0.008291	0	0
TRIOBP	11078	broad.mit.edu	37	22	38130441	38130441	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:38130441C>T	uc003atr.3	+	8	4369	c.4098C>T	c.(4096-4098)acC>acT	p.T1366T	TRIOBP_uc003atu.3_Silent_p.T1194T	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1366					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CAGAACTGACCCGGCGGAGCC	0.647000														37			16		0	0	0.010504	0	0
APOB	338	broad.mit.edu	37	2	21234846	21234846	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:21234846C>T	uc002red.3	-	25	5022	c.4894G>A	c.(4894-4896)Ggc>Agc	p.G1632S		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1632					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGTCAGTGCCTAAGATGTCA	0.438000														394			218		0	0	0.003610	0	0
BSN	8927	broad.mit.edu	37	3	49694838	49694838	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:49694838G>A	uc003cxe.4	+	4	7963	c.7849G>A	c.(7849-7851)Gaa>Aaa	p.E2617K		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2617					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)		GACGGACGACGAAGACAGTGC	0.652000														26			23		0	0	0.003330	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160729002	160729002	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:160729002C>T	uc002ubb.4	-	12	2151	c.2077G>A	c.(2077-2079)Gaa>Aaa	p.E693K	LY75-CD302_uc010fos.3_Missense_Mutation_p.E693K|LY75-CD302_uc002ubc.4_Missense_Mutation_p.E693K|LY75-CD302_uc010fot.2_Missense_Mutation_p.E693K	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	693	C-type lectin 4.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										TCCTTTATTTCATCCACATGG	0.378000														76			34		0	0	0.003271	0	0
PROKR2	128674	broad.mit.edu	37	20	5294791	5294791	+	Silent	SNP	G	A	A	rs139296723		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:5294791G>A	uc010zqw.2	-	0	233	c.225C>T	c.(223-225)atC>atT	p.I75I	PROKR2_uc010zqx.2_Silent_p.I75I|PROKR2_uc010zqy.2_Silent_p.I75I|AX746654_uc002wly.1_5'Flank	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	75						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TGAGGGCAGCGATAAAGACAA	0.552000										HNSCC(71;0.22)				62			25		0	0	0.003954	0	0
RFPL3	10738	broad.mit.edu	37	22	32756276	32756276	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:32756276C>T	uc003amj.3	+	1	616	c.411C>T	c.(409-411)ttC>ttT	p.F137F	RFPL3_uc010gwn.3_Silent_p.F108F|RFPL3-AS1_uc003amk.3_Non-coding_Transcript|RFPL3-AS1_uc003aml.3_Non-coding_Transcript	NM_001098535	NP_006595	O75679	RFPL3_HUMAN	Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA.	137	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CCAACAACTTCCTCCTCATTT	0.517000														64			40		0	0	0.007835	0	0
C15orf2	23742	broad.mit.edu	37	15	24924009	24924009	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:24924009G>T	uc001ywo.3	+	0	3469	c.2995G>T	c.(2995-2997)Gga>Tga	p.G999*		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	999					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CTTACTGGTTGGAAATACTAT	0.527000														28			6		0.00116845	0.00132969	0.001168	1	0
THAP8	199745	broad.mit.edu	37	19	36530863	36530864	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:36530863_36530864GG>AA	uc002oda.1	-	1	803_804	c.258_259CC>TT	c.(256-261)tcccgg>tcTTgg	p.R87W	BC071809_uc002ocy.3_Intron|THAP8_uc010xtb.1_Missense_Mutation_p.R44W|THAP8_uc010xtc.1_Intron	NM_152658	NP_689871	Q8NA92	THAP8_HUMAN	Homo sapiens THAP domain containing 8 (THAP8), mRNA.	87							DNA binding|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGTGGTCCCCGGGAGAAGATGG	0.629000														48			16		0	0	0.004672	0	0
ANO3	63982	broad.mit.edu	37	11	26655777	26655777	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:26655777G>A	uc001mqt.4	+	18	2045	c.1900G>A	c.(1900-1902)Gaa>Aaa	p.E634K	ANO3_uc010rdr.2_Missense_Mutation_p.E618K|ANO3_uc010rds.2_Missense_Mutation_p.E473K|ANO3_uc010rdt.2_Missense_Mutation_p.E488K	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	634						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATCAGAGTGGGAAAACAGCTT	0.413000														33			6		0	0	0.003080	0	0
TNXB	7148	broad.mit.edu	37	6	32065010	32065010	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:32065010C>T	uc003nzl.2	-	2	822	c.620G>A	c.(619-621)gGc>gAc	p.G207D		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	207	EGF-like 2.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCAGTGTAGCCGGGAAAGCA	0.667000														97			50		0	0	0.003610	0	0
SGIP1	84251	broad.mit.edu	37	1	67147836	67147836	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:67147836C>T	uc001dcr.3	+	14	1316	c.1099C>T	c.(1099-1101)Cct>Tct	p.P367S	SGIP1_uc010opd.2_Intron|SGIP1_uc001dcs.3_Intron|SGIP1_uc001dct.3_Intron|SGIP1_uc009wat.3_Missense_Mutation_p.P134S	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	367	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TCCTGGGCCTCCTCGCAATGT	0.567000														152			56		0	0	0.003610	0	0
MST1P2	11209	broad.mit.edu	37	1	16976747	16976747	+	RNA	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:16976747A>G	uc010och.2	+	13		c.2468A>G			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CCTTGACGCCATATGCTTTGG	0.473000														82			4		0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	9054339	9054339	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9054339C>T	uc002mkp.3	-	3	31487	c.31283G>A	c.(31282-31284)gGc>gAc	p.G10428D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10430	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						TTCCATAATGCCATCAGTTCC	0.463000														18			8		0	0	0.004482	0	0
NME8	51314	broad.mit.edu	37	7	37936528	37936528	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:37936528G>A	uc003tfn.3	+	16	1973	c.1601G>A	c.(1600-1602)cGa>cAa	p.R534Q		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	534	NDK 3.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GAATGGAGACGATTGATGGGC	0.458000														74			30		0	0	0.008361	0	0
PRDM9	56979	broad.mit.edu	37	5	23526506	23526506	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:23526506C>T	uc003jgo.3	+	10	1491	c.1309C>T	c.(1309-1311)Cag>Tag	p.Q437*		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	437					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGATCAGAATCAGGAGCAGCA	0.468000										HNSCC(3;0.000094)				60			17		0	0	0.004990	0	0
AKD1	221264	broad.mit.edu	37	6	109867252	109867252	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:109867252A>C	uc003ptn.2	-	25	3120	c.3043T>G	c.(3043-3045)Tta>Gta	p.L1015V	AKD1_uc011eat.1_Missense_Mutation_p.L94V	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	1015					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						AAAATGTTTAATTTTTCTGCC	0.428000														157			5		0	0	0.001984	0	0
COL4A1	1282	broad.mit.edu	37	13	110831369	110831369	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:110831369G>A	uc001vqw.4	-	30	2481	c.2359C>T	c.(2359-2361)Cct>Tct	p.P787S		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	787	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGCAATCCAGGAGGTCCCGGT	0.622000														16			4		0	0	0.000602	0	0
GRM1	2911	broad.mit.edu	37	6	146673564	146673564	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:146673564C>T	uc010khw.1	+	4	1835	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	GRM1_uc010khv.1_Silent_p.I455I|GRM1_uc003qll.2_Silent_p.I455I|GRM1_uc011edz.1_Silent_p.I455I|GRM1_uc011eea.1_Silent_p.I455I	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	455					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ACTTCCTCATCAAGTCCTCAT	0.522000														101			68		0	0	0.003610	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139893013	139893013	+	Silent	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:139893013A>T	uc003lfs.2	+	23	4420	c.4266A>T	c.(4264-4266)gcA>gcT	p.A1422A	ANKHD1-EIF4EBP3_uc003lfq.2_Silent_p.A1441A|ANKHD1-EIF4EBP3_uc003lfr.3_Silent_p.A1422A|ANKHD1-EIF4EBP3_uc003lft.1_Silent_p.A633A|ANKHD1-EIF4EBP3_uc003lfu.1_Silent_p.A902A|ANKHD1-EIF4EBP3_uc003lfv.1_Silent_p.A499A|ANKHD1-EIF4EBP3_uc011czh.1_Silent_p.A161A|ANKHD1-EIF4EBP3_uc003lfw.3_Silent_p.A60A	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1422						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAAGCTGCAGAAGCAAATA	0.348000														29			14		0	0	0.003163	0	0
LLGL1	3996	broad.mit.edu	37	17	18138301	18138301	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:18138301G>A	uc002gsp.3	+	8	1115	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA.	352					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CACACGGCCCGAGGATGGTGC	0.612000														14			8		0	0	0.004482	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174541	150174541	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:150174541G>A	uc003whj.3	+	4	2001	c.1671G>A	c.(1669-1671)acG>acA	p.T557T		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	557						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding	p.T557R(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CAGACTTTACGAAATACGCGA	0.493000														33			96		0	0	0.003610	0	0
ZNF451	26036	broad.mit.edu	37	6	57012021	57012021	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:57012021C>T	uc003pdm.1	+	9	1362	c.1138C>T	c.(1138-1140)Cat>Tat	p.H380Y	ZNF451_uc003pdl.3_Missense_Mutation_p.H380Y|ZNF451_uc003pdn.1_Missense_Mutation_p.H380Y|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.H380Y	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CACCCAAAATCATAAGCAGAA	0.423000														44			13		0	0	0.004007	0	0
ADAM32	203102	broad.mit.edu	37	8	39112000	39112000	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:39112000C>T	uc003xmt.4	+	17	2215	c.1970C>T	c.(1969-1971)tCc>tTc	p.S657F	ADAM32_uc011lch.2_Missense_Mutation_p.S558F|ADAM32_uc003xmu.4_Missense_Mutation_p.S551F|ADAM32_uc003xmv.3_Missense_Mutation_p.S81F	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	657					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CAAATACGTTCCAAAGGATTT	0.343000														7			7		0	0	0.001984	0	0
KRT4	3851	broad.mit.edu	37	12	53207961	53207961	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:53207961G>A	uc001saz.3	-	0	104	c.104C>T	c.(103-105)gCc>gTc	p.A35V		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	0						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GGTTGCAGGGGCATAAAGGGA	0.557000														24			12		0	0	0.000978	0	0
RTTN	25914	broad.mit.edu	37	18	67692058	67692058	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:67692058G>A	uc002lkp.2	-	43	5918	c.5850C>T	c.(5848-5850)gtC>gtT	p.V1950V	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Silent_p.V1038V|RTTN_uc010dqp.2_Silent_p.V202V	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	1950							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GCAAGACAGGGACAAGGTGAG	0.378000														30			18		0	0	0.007413	0	0
CEP70	80321	broad.mit.edu	37	3	138224239	138224239	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:138224239T>A	uc003esl.3	-	12	1317	c.1119A>T	c.(1117-1119)aaA>aaT	p.K373N	CEP70_uc011bmk.2_Missense_Mutation_p.K353N|CEP70_uc011bml.2_Missense_Mutation_p.K355N|CEP70_uc011bmm.2_Missense_Mutation_p.K221N|CEP70_uc003esm.3_Missense_Mutation_p.K373N	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	Homo sapiens centrosomal protein 70kDa (CEP70), mRNA.	373					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						GGACTCCCCCTTTGGTCTGTT	0.333000														315			141		0	0	0.003610	0	0
GHDC	84514	broad.mit.edu	37	17	40343101	40343101	+	Silent	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:40343101A>T	uc002hzd.3	-	4	1501	c.1017T>A	c.(1015-1017)ctT>ctA	p.L339L	GHDC_uc002hzg.2_Silent_p.L339L|GHDC_uc010wgg.2_Silent_p.L300L|GHDC_uc002hze.4_Silent_p.L339L|GHDC_uc002hzf.4_Silent_p.L339L	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	Homo sapiens GH3 domain containing (GHDC), transcript variant 1, mRNA.	339						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CCTCGGCCAAAAGGAGGGTGG	0.662000														57			12		0	0	0.000978	0	0
USP29	57663	broad.mit.edu	37	19	57640389	57640389	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:57640389G>A	uc002qny.3	+	3	702	c.346G>A	c.(346-348)Gat>Aat	p.D116N	USP29_uc021vci.1_Missense_Mutation_p.D116N	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	116					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATCTGATGATGATTGGAGTGT	0.353000														38			13		0	0	0.002450	0	0
RALGAPB	57148	broad.mit.edu	37	20	37199425	37199425	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:37199425C>T	uc002xiw.3	+	27	4334	c.4077C>T	c.(4075-4077)ctC>ctT	p.L1359L	RALGAPB_uc002xix.3_Silent_p.L1356L|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.3_Silent_p.L1138L	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	1359	Rap-GAP.				activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACTTTCCCCTCTCAGAGCTGA	0.373000														41			17		0	0	0.007413	0	0
EXTL3	2137	broad.mit.edu	37	8	28574084	28574084	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:28574084C>T	uc003xgz.1	+	2	1101	c.508C>T	c.(508-510)Ccc>Tcc	p.P170S		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	170						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CGGCCTCCCTCCCCCGAAGGC	0.607000														36			18		0	0	0.008871	0	0
C4BPA	722	broad.mit.edu	37	1	207297618	207297618	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:207297618C>T	uc001hfo.3	+	5	807	c.613C>T	c.(613-615)Ccc>Tcc	p.P205S		NM_000715	NP_000706	P04003	C4BPA_HUMAN	Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.	205	Sushi 3.				complement activation, classical pathway|innate immune response	extracellular region	protein binding	p.D204D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CAGCTGTGACCCCCGCTTCTC	0.493000														42			8		0	0	0.006214	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66989093	66989093	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:66989093G>A	uc003xvs.1	+	3	609	c.318G>A	c.(316-318)tcG>tcA	p.S106S	DNAJC5B_uc003xvt.1_Non-coding_Transcript	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 beta (DNAJC5B), mRNA.	106					protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			TCATGCTGTCGAGCTGGTGGG	0.428000														61			29		0	0	0.008361	0	0
CRYBB1	1414	broad.mit.edu	37	22	26997875	26997875	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:26997875G>A	uc003acy.1	-	4	613	c.543C>T	c.(541-543)gaC>gaT	p.D181D		NM_001887	NP_001878	P53674	CRBB1_HUMAN	Homo sapiens crystallin, beta B1 (CRYBB1), mRNA.	181	Beta/gamma crystallin 'Greek key' 3.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						TGCCCACGCGGTCACTGAAGC	0.597000														44			24		0	0	0.003330	0	0
GABRA4	2557	broad.mit.edu	37	4	46930291	46930291	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:46930291A>G	uc003gxg.3	-	8	2599	c.1616T>C	c.(1615-1617)gTt>gCt	p.V539A	GABRA4_uc021xnz.1_Missense_Mutation_p.V520A|GABRA4_uc021xoa.1_Missense_Mutation_p.V469A	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	539					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TAAATAAACAACCCAATAAAC	0.368000														57			14		0	0	0.003163	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159064	18159064	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:18159064C>T	uc021qek.1	+	0	315	c.315C>T	c.(313-315)ccC>ccT	p.P105P	MRGPRX3_uc001mnu.3_Silent_p.P105P	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA.	105						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGACCTTTCCCTACTTTATAG	0.547000														88			29		0	0	0.007291	0	0
GRK7	131890	broad.mit.edu	37	3	141497718	141497718	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:141497718G>A	uc011bnd.2	+	0	676	c.592G>A	c.(592-594)Ggg>Agg	p.G198R		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	198	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CAGAGTGCTGGGGAAAGGTGG	0.473000														72			29		0	0	0.003271	0	0
CLCN4	1183	broad.mit.edu	37	X	10176261	10176261	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:10176261C>T	uc004csy.4	+	8	1450	c.1020C>T	c.(1018-1020)gtC>gtT	p.V340V	CLCN4_uc011mid.2_Silent_p.V246V	NM_001830	NP_001821	P51793	CLCN4_HUMAN	Homo sapiens chloride channel 4 (CLCN4), mRNA.	340						early endosome membrane|integral to membrane|late endosome membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity	p.G339A(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGCTTGGGGTCTTCGGGGGCT	0.577000														39			62		0	0	0.003610	0	0
LAMA3	3909	broad.mit.edu	37	18	21479405	21479405	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:21479405G>A	uc002kuq.3	+	46	6076	c.5990G>A	c.(5989-5991)aGg>aAg	p.R1997K	LAMA3_uc002kur.3_Intron|LAMA3_uc002kus.4_Missense_Mutation_p.R388K|LAMA3_uc002kut.4_Intron	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1997	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTGATAAAAGGGAGTCGCAG	0.483000														18			11		0	0	0.001368	0	0
PRKACB	5567	broad.mit.edu	37	1	84662426	84662426	+	Splice_Site	SNP	G	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:84662426G>T	uc001djl.3	+	6	780	c.687_splice	c.e6+1	p.Q229_splice	PRKACB_uc001djj.3_Splice_Site_p.Q182_splice|PRKACB_uc001djn.3_Splice_Site_p.Q186_splice|PRKACB_uc010oru.2_Splice_Site_p.Q170_splice|PRKACB_uc010ort.2_Splice_Site_p.Q189_splice|PRKACB_uc001djp.3_Splice_Site_p.Q188_splice|PRKACB_uc001djq.3_Splice_Site_p.Q152_splice|PRKACB_uc010orv.2_Splice_Site_p.Q169_splice|PRKACB_uc001dji.3_Splice_Site_p.Q182_splice|PRKACB_uc009wcf.2_Splice_Site_p.Q188_splice	NM_182948	NP_891993	P22694	KAPCB_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, beta (PRKACB), transcript variant 1, mRNA.	182	Protein kinase.				G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		CTATATCCAGGTATGACTTTA	0.353000														23			17		1.67942e-08	1.91988e-08	0.006122	1	0
CSMD2	114784	broad.mit.edu	37	1	33985490	33985490	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:33985490C>T	uc001bxm.1	-	68	10835	c.10658G>A	c.(10657-10659)aGc>aAc	p.S3553N	CSMD2_uc001bxn.1_Missense_Mutation_p.S3409N	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3409						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCCACTGAGCTGCTGTTGGA	0.562000														33			9		0	0	0.006214	0	0
PAPPA	5069	broad.mit.edu	37	9	118997908	118997908	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:118997908C>T	uc004bjn.3	+	6	3105	c.2724C>T	c.(2722-2724)ttC>ttT	p.F908F	PAPPA_uc011lxp.1_Silent_p.F603F|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	908					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATAGGAAATTCGTAGACATGT	0.517000														52			26		0	0	0.008361	0	0
SPAG8	26206	broad.mit.edu	37	9	35811980	35811981	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:35811980_35811981GG>AA	uc003zye.3	-	1	177_178	c.62_63CC>TT	c.(61-63)ccc>cTT	p.P21L	SPAG8_uc003zyg.3_Missense_Mutation_p.P21L	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	Homo sapiens sperm associated antigen 8 (SPAG8), transcript variant 2, mRNA.	21						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			CTTCGGAGCTGGGCTGTATGTC	0.574000														27			21		0	0	0.004672	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103440442	103440442	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:103440442G>A	uc001ymi.1	-	11	1784	c.1552C>T	c.(1552-1554)Cgc>Tgc	p.R518C		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	518					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CGCTCTTGGCGAAGCGCCACT	0.557000														28			15		0	0	0.004990	0	0
ZBP1	81030	broad.mit.edu	37	20	56191419	56191419	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:56191419T>C	uc002xyo.3	-	1	421	c.140A>G	c.(139-141)cAa>cGa	p.Q47R	ZBP1_uc010gjm.3_Missense_Mutation_p.Q47R|ZBP1_uc002xyp.3_Intron|ZBP1_uc010zzn.2_Missense_Mutation_p.Q47R	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA.	47						cytoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GTAGAGGACTTGGTTGAGCTC	0.567000														95			65		0	0	0.003610	0	0
NBAS	51594	broad.mit.edu	37	2	15555702	15555702	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:15555702G>A	uc002rcc.1	-	24	2931	c.2905C>T	c.(2905-2907)Ccc>Tcc	p.P969S	NBAS_uc010exl.1_Intron|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	969										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ATCTTCAGGGGAAATTTTAAG	0.358000														79			29		0	0	0.002445	0	0
DNAH17	8632	broad.mit.edu	37	17	76498998	76498999	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:76498998_76498999CC>TT	uc010dhp.2	-	31	5176_5177	c.5051_5052GG>AA	c.(5050-5052)agg>aAA	p.R1684K	AK127460_uc002jvt.1_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCCACTGCTCCCTCGGCTTCTC	0.629000														28			4		0	0	0.004672	0	0
SLC17A2	10246	broad.mit.edu	37	6	25917048	25917048	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:25917048G>A	uc011dkb.2	-	6	878	c.795C>T	c.(793-795)ccC>ccT	p.P265P	SLC17A2_uc011dkc.2_Silent_p.P265P|SLC17A2_uc003nfl.3_Silent_p.P265P			O00624	NPT3_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.	265					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						TCGCCTTTATGGGGACAGCTC	0.488000														34			17		0	0	0.004990	0	0
RPS27	6232	broad.mit.edu	37	1	153963239	153963239	+	Splice_Site	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:153963239C>T	uc001fdv.3	+	1	1	c.-33_splice	c.e1-1			NM_001030	NP_001021	P42677	RS27_HUMAN	Homo sapiens ribosomal protein S27 (RPS27), mRNA.						cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTTTCGCTCCTTTCCGGCGG	0.537000														34			24		0	0	0.004656	0	0
TTN	7273	broad.mit.edu	37	2	179589042	179589042	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179589042G>A	uc021vsy.1	-	68	17553	c.17328C>T	c.(17326-17328)ttC>ttT	p.F5776F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F2437F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6703	Ig-like 38.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGAACCTGGAAAGTGTATG	0.398000														37			23		0	0	0.002299	0	0
COL4A4	1286	broad.mit.edu	37	2	227915856	227915857	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:227915856_227915857CC>TT	uc021vxr.1	-	31	3087_3088	c.2986_2987GG>AA	c.(2986-2988)ggg>AAg	p.G996K	COL4A4_uc021vxs.1_Missense_Mutation_p.G996K	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	996	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCCTTGCATCCCGGGAGTTCCT	0.520000														62			39		0	0	0.004672	0	0
TTC39A	22996	broad.mit.edu	37	1	51753901	51753901	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:51753901C>T	uc001csl.3	-	17	1875	c.1770G>A	c.(1768-1770)caG>caA	p.Q590Q	TTC39A_uc001csk.3_Silent_p.Q555Q|TTC39A_uc010ond.2_Silent_p.Q527Q|TTC39A_uc010one.2_Silent_p.Q554Q|TTC39A_uc010onf.2_Silent_p.Q558Q|TTC39A_uc001csj.3_Silent_p.Q191Q	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	Homo sapiens tetratricopeptide repeat domain 39A (TTC39A), transcript variant 2, mRNA.	590							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						GTGTGGCTGCCTGGATTCGAA	0.512000														49			18		0	0	0.008871	0	0
ADARB1	104	broad.mit.edu	37	21	46596307	46596307	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:46596307C>T	uc002zgy.2	+	3	1126	c.691C>T	c.(691-693)Ccg>Tcg	p.P231S	ADARB1_uc002zgs.2_Non-coding_Transcript|ADARB1_uc002zgw.2_Missense_Mutation_p.P231S|ADARB1_uc002zgv.2_Non-coding_Transcript|ADARB1_uc002zgt.2_Missense_Mutation_p.P231S|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgr.2_Missense_Mutation_p.P231S|ADARB1_uc002zgq.2_Non-coding_Transcript|ADARB1_uc002zgu.2_Non-coding_Transcript|ADARB1_uc011afo.1_Missense_Mutation_p.P280S	NM_015833	NP_056648	P78563	RED1_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B1 (ADARB1), transcript variant 2, mRNA.	231	DRBM 2.				RNA processing|adenosine to inosine editing|mRNA modification|mRNA processing	nucleoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|mRNA binding|metal ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		ATTCCCACCCCCGAGTGGGAA	0.597000														45			23		0	0	0.003330	0	0
ME2	4200	broad.mit.edu	37	18	48434450	48434450	+	Silent	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:48434450A>G	uc002ley.3	+	2	385	c.126A>G	c.(124-126)ttA>ttG	p.L42L	ME2_uc010dpd.3_Silent_p.L42L	NM_002396	NP_002387	P23368	MAOM_HUMAN	Homo sapiens malic enzyme 2, NAD(+)-dependent, mitochondrial (ME2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	42					malate metabolic process	mitochondrial matrix	NAD binding|electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	CATTTACTTTACAAGAACGAC	0.323000														43			7		0	0	0.003080	0	0
NAT2	10	broad.mit.edu	37	8	18257721	18257721	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:18257721C>T	uc022asl.1	+	0	208	c.208C>T	c.(208-210)Cag>Tag	p.Q70*	NAT2_uc003wyw.1_Nonsense_Mutation_p.Q70*	NM_000015	NP_000006	P11245	ARY2_HUMAN	Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA.	70					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		GTGGTGTCTCCAGGTCAATCA	0.453000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					97			34		0	0	0.004289	0	0
CAPN1	823	broad.mit.edu	37	11	64972273	64972273	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:64972273C>T	uc009yqd.2	+	10	1482	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C	CAPN1_uc001odf.2_Missense_Mutation_p.R429C|CAPN1_uc001odg.2_Missense_Mutation_p.R429C|CAPN1_uc010roa.2_Missense_Mutation_p.R170C	NM_001198868	NP_001185797	P07384	CAN1_HUMAN	Homo sapiens calpain 1, (mu/I) large subunit (CAPN1), transcript variant 1, mRNA.	429	Domain III.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		GAAGCACCGTCGCCGCGAGCG	0.632000											OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		44			8		0	0	0.003080	0	0
LOC100509575	100509575	broad.mit.edu	37	X	47969935	47969935	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:47969935C>T	uc011mlv.2	+	2	210	c.138C>T	c.(136-138)atC>atT	p.I46I	LOC100509575_uc022bvt.1_Non-coding_Transcript	NM_001205103	NP_001192032	B7Z813	B7Z813_HUMAN	Homo sapiens putative protein SSX6-like (LOC100509575), mRNA.	46					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding										CGGAGAAAATCAGCTGTGTGC	0.408000														10			19		0	0	0.001882	0	0
NRP1	8829	broad.mit.edu	37	10	33475384	33475384	+	Missense_Mutation	SNP	C	T	T	rs139081795		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:33475384C>T	uc001iwx.4	-	13	2618	c.2095G>A	c.(2095-2097)Gaa>Aaa	p.E699K	NRP1_uc001iwv.4_Missense_Mutation_p.E699K|NRP1_uc001iwy.4_Missense_Mutation_p.E692K|NRP1_uc009xlz.3_Missense_Mutation_p.E693K|NRP1_uc001iww.4_Missense_Mutation_p.E511K	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	699	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TTCTGATTTTCGTCAGCTTGG	0.493000														53			21		0	0	0.003330	0	0
DNAH10	196385	broad.mit.edu	37	12	124315133	124315133	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:124315133G>A	uc001uft.4	+	24	4103	c.4078G>A	c.(4078-4080)Gaa>Aaa	p.E1360K		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1360	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGTCTTTTTTGAAATGACCGA	0.373000														61			26		0	0	0.007291	0	0
CDC23	8697	broad.mit.edu	37	5	137533900	137533900	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:137533900A>C	uc003lcl.3	-	8	1031	c.1000T>G	c.(1000-1002)Tgc>Ggc	p.C334G		NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	Homo sapiens cell division cycle 23 homolog (S. cerevisiae) (CDC23), mRNA.	334					G1 phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATTACACAGCACGTTTCTACA	0.313000														61			22		0	0	0.010504	0	0
OR6C1	390321	broad.mit.edu	37	12	55714790	55714790	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:55714790G>A	uc010spi.2	+	0	407	c.407G>A	c.(406-408)cGa>cAa	p.R136Q		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						ATCATGAATCGAAGAGTCTGC	0.433000														18			9		0	0	0.006214	0	0
IGSF9B	22997	broad.mit.edu	37	11	133800931	133800931	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:133800931G>A	uc001qgx.4	-	10	1698	c.1467C>T	c.(1465-1467)gtC>gtT	p.V489V	IGSF9B_uc001qgy.1_Silent_p.V331V	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	489	Ig-like 5.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CGTTGGTGGCGACACATTCCC	0.662000														32			6		0	0	0.001168	0	0
SACS	26278	broad.mit.edu	37	13	23907707	23907707	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:23907707G>A	uc001uon.2	-	9	10897	c.10308C>T	c.(10306-10308)atC>atT	p.I3436I	SACS_uc001uoo.2_Silent_p.I3289I|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3436					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAGCTGAAGGGATACTTTTTG	0.358000														61			38		0	0	0.005524	0	0
XIRP2	129446	broad.mit.edu	37	2	168099418	168099418	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:168099418C>T	uc002udx.3	+	8	1605	c.1516C>T	c.(1516-1518)Cat>Tat	p.H506Y	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.H331Y|XIRP2_uc010fpq.3_Missense_Mutation_p.H284Y|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	331					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAAACACATCCATCCTGAGTT	0.368000														25			12		0	0	0.000978	0	0
RBBP4	5928	broad.mit.edu	37	1	33138435	33138435	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:33138435G>A	uc001bvr.3	+	10	1304	c.1145G>A	c.(1144-1146)tGg>tAg	p.W382*	RBBP4_uc001bvs.3_Nonsense_Mutation_p.W381*|RBBP4_uc010ohj.2_Nonsense_Mutation_p.W130*|RBBP4_uc010ohk.2_Nonsense_Mutation_p.W347*	NM_005610	NP_001128728	Q09028	RBBP4_HUMAN	Homo sapiens retinoblastoma binding protein 4 (RBBP4), transcript variant 1, mRNA.	382					CenH3-containing nucleosome assembly at centromere|DNA replication|cell cycle|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NURF complex|NuRD complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				GATTTCTCCTGGAATCCCAAT	0.383000														34			15		0	0	0.008871	0	0
ART3	419	broad.mit.edu	37	4	77033592	77033592	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:77033592G>A	uc003hjo.3	+	11	1224	c.1090G>A	c.(1090-1092)Ggc>Agc	p.G364S	ART3_uc003hjk.3_Missense_Mutation_p.G342S|ART3_uc003hjn.3_Missense_Mutation_p.G353S|ART3_uc003hjp.3_Non-coding_Transcript|ART3_uc010ijb.3_Non-coding_Transcript|ART3_uc003hjq.3_Non-coding_Transcript|ART3_uc003hjr.3_Missense_Mutation_p.G345S|ART3_uc010ijc.3_Missense_Mutation_p.G323S|ART3_uc010ijd.3_Missense_Mutation_p.G323S	NM_001130016	NP_001123488	Q13508	NAR3_HUMAN	Homo sapiens ADP-ribosyltransferase 3 (ART3), transcript variant 1, mRNA.	364					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	p.I364I(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGCATCCTCGGGCAAACTGCT	0.413000														70			15		0	0	0.002450	0	0
DENND1C	79958	broad.mit.edu	37	19	6475321	6475321	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:6475321G>A	uc002mfe.3	-	13	1109	c.1017C>T	c.(1015-1017)ctC>ctT	p.L339L	DENND1C_uc002mfb.3_5'UTR|DENND1C_uc002mfc.3_5'UTR|DENND1C_uc002mfd.3_5'UTR|DENND1C_uc010xje.2_Silent_p.L295L	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	339	dDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						ACCCCCCGAAGAGCAGGGCCT	0.652000														17			8		0	0	0.003080	0	0
DNPEP	23549	broad.mit.edu	37	2	220239733	220239733	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:220239733G>A	uc002vle.2	-	13	1397	c.1251C>T	c.(1249-1251)gtC>gtT	p.V417V	DNPEP_uc002vli.2_Silent_p.V364V|DNPEP_uc010zlg.2_Silent_p.V425V	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	Homo sapiens aspartyl aminopeptidase (DNPEP), mRNA.	407					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	p.V417F(1)|p.M416I(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	TGTCATTCCGGACCATGAGAT	0.572000														40			17		0	0	0.006122	0	0
UBR4	23352	broad.mit.edu	37	1	19479878	19479878	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:19479878G>A	uc001bbi.3	-	45	6753	c.6749C>T	c.(6748-6750)tCc>tTc	p.S2250F	UBR4_uc001bbk.1_5'Flank|UBR4_uc001bbl.1_Missense_Mutation_p.S187F|UBR4_uc001bbm.1_Missense_Mutation_p.S1462F	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	2250					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGCCAGTAGGAGGTGTTCTC	0.537000														77			37		0	0	0.004878	0	0
TMEM130	222865	broad.mit.edu	37	7	98457957	98457957	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:98457957G>A	uc003upo.3	-	2	585	c.396C>T	c.(394-396)ttC>ttT	p.F132F	TMEM130_uc011kiq.2_Silent_p.F113F|TMEM130_uc011kir.2_Silent_p.F132F|TMEM130_uc003upn.3_Silent_p.F30F	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA.	132						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCCCCACGAGGAACTCTGGGA	0.557000														40			16		0	0	0.004007	0	0
ENTHD1	150350	broad.mit.edu	37	22	40139855	40139855	+	Silent	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:40139855A>G	uc003ayg.3	-	6	1904	c.1653T>C	c.(1651-1653)ctT>ctC	p.L551L		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	551										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CCTCCCTTAAAAGAACACTAA	0.423000														35			11		0	0	0.000978	0	0
ZNF333	84449	broad.mit.edu	37	19	14826950	14826950	+	Silent	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:14826950T>C	uc002mzn.3	+	8	761	c.627T>C	c.(625-627)gcT>gcC	p.A209A	ZNF333_uc002mzk.4_Silent_p.A100A|ZNF333_uc010dzr.1_Non-coding_Transcript	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	Homo sapiens zinc finger protein 333 (ZNF333), mRNA.	209	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						CAGATGTGGCTGTGGTGTTCA	0.557000														87			51		0	0	0.003610	0	0
RAD54L2	23132	broad.mit.edu	37	3	51697086	51697086	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:51697086C>T	uc011bdt.2	+	21	4179	c.4054C>T	c.(4054-4056)Ccc>Tcc	p.P1352S	RAD54L2_uc003dbh.3_Missense_Mutation_p.P941S|RAD54L2_uc011bdu.2_Missense_Mutation_p.P1046S|RAD54L2_uc003dbj.3_Missense_Mutation_p.P678S	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	1352						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GCCAGCAGGCCCCGTCAGTTC	0.577000														75			29		0	0	0.008361	0	0
GBX1	2636	broad.mit.edu	37	7	150846056	150846056	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:150846056C>T	uc011kvg.2	-	1	944	c.712G>A	c.(712-714)Gga>Aga	p.G238R		NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	Homo sapiens gastrulation brain homeobox 1 (GBX1), mRNA.	238						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCAGGCTTCCCTTTAGCTTC	0.642000														185			48		0	0	0.003610	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361463	70361463	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:70361463T>C	uc003hek.4	-	0	164	c.117A>G	c.(115-117)atA>atG	p.I39M	UGT2B4_uc011cap.2_Intron|UGT2B4_uc003hel.4_Missense_Mutation_p.I39M	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	39					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						GGATTGTCTTTATATTCATCC	0.468000														85			63		0	0	0.003610	0	0
VPS72	6944	broad.mit.edu	37	1	151150580	151150580	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:151150580G>A	uc001exe.1	-	4	647	c.604C>T	c.(604-606)Cat>Tat	p.H202Y	TMOD4_uc001exd.3_5'Flank|TMOD4_uc001exc.4_5'Flank|TMOD4_uc010pct.2_5'Flank|VPS72_uc001exf.1_Missense_Mutation_p.H202Y	NM_005997	NP_005988	Q15906	VPS72_HUMAN	Homo sapiens vacuolar protein sorting 72 homolog (S. cerevisiae) (VPS72), mRNA.	202					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGCTTCTTATGAACCTGCTTC	0.493000														50			10		0	0	0.006214	0	0
LGALS12	85329	broad.mit.edu	37	11	63283073	63283073	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:63283073C>T	uc001nxc.2	+	7	1096	c.755C>T	c.(754-756)cCt>cTt	p.P252L	LGALS12_uc001nxa.2_Missense_Mutation_p.P251L|LGALS12_uc001nxb.2_Missense_Mutation_p.P242L|LGALS12_uc001nxd.2_Missense_Mutation_p.P190L|LGALS12_uc001nxe.2_Missense_Mutation_p.P181L|LGALS12_uc009yot.2_Missense_Mutation_p.P211L	NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.	251	Galectin 2.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GCCCATGCTCCTGTGACACTC	0.597000														45			12		0	0	0.001368	0	0
SLC25A20	788	broad.mit.edu	37	3	48921519	48921519	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:48921519G>A	uc003cva.4	-	2	436	c.237C>T	c.(235-237)atC>atT	p.I79I	SLC25A20_uc011bbw.2_Silent_p.I29I	NM_000387	NP_000378	O43772	MCAT_HUMAN	Homo sapiens solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 (SLC25A20), nuclear gene encoding mitochondrial protein, mRNA.	79					carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	TGACCCCGATGATAGGGGCAG	0.488000														50			31		0	0	0.008361	0	0
SLC18A1	6570	broad.mit.edu	37	8	20028949	20028949	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:20028949G>A	uc011kyq.2	-	7	1252	c.781C>T	c.(781-783)Ctc>Ttc	p.L261F	SLC18A1_uc003wzm.3_Missense_Mutation_p.L261F|SLC18A1_uc011kyr.2_Missense_Mutation_p.L261F|SLC18A1_uc003wzn.3_Missense_Mutation_p.L261F|SLC18A1_uc010ltf.3_Non-coding_Transcript	NM_001135691	NP_003044	P54219	VMAT1_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1), transcript variant 1, mRNA.	261					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		GCCAGGATGAGGAAGGGTGCA	0.532000														101			21		0	0	0.003330	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175171	207175171	+	Silent	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:207175171A>G	uc002vbp.2	+	4	6169	c.5919A>G	c.(5917-5919)tcA>tcG	p.S1973S		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1973							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GTAAGTGTTCACGTTTACAGG	0.368000														34			16		0	0	0.004007	0	0
LRRN2	10446	broad.mit.edu	37	1	204588975	204588975	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:204588975T>G	uc021phy.1	-	0	146	c.146A>C	c.(145-147)gAg>gCg	p.E49A	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.E49A|LRRN2_uc001hbf.1_Missense_Mutation_p.E49A|LRRN2_uc009xbf.1_Missense_Mutation_p.E49A|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	49	LRRNT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AGTGGTAGCCTCGCGGTAGGA	0.657000														25			7		0	0	0.001984	0	0
SLC26A8	116369	broad.mit.edu	37	6	35943165	35943165	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:35943165C>T	uc003olm.3	-	9	1385	c.1274G>A	c.(1273-1275)gGa>gAa	p.G425E	SLC26A8_uc003oll.3_Missense_Mutation_p.G320E|SLC26A8_uc003oln.3_Missense_Mutation_p.G425E	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	425					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TTGTCTTCCTCCAGATTTATC	0.338000														17			7		0	0	0.003080	0	0
FLRT2	23768	broad.mit.edu	37	14	86088740	86088740	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:86088740G>A	uc021rxf.1	+	0	882	c.882G>A	c.(880-882)ggG>ggA	p.G294G	FLRT2_uc001xvr.3_Silent_p.G294G|FLRT2_uc010atd.3_Silent_p.G294G	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	294					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.G294G(2)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGACTCAAGGGGTTTTTGATA	0.443000														187			79		0	0	0.003610	0	0
LDHA	3939	broad.mit.edu	37	11	18424479	18424479	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:18424479C>T	uc001mok.3	+	4	783	c.511C>T	c.(511-513)Cgt>Tgt	p.R171C	LDHA_uc009yho.2_5'UTR|LDHA_uc001mol.3_Missense_Mutation_p.R171C|LDHA_uc010rdc.1_Missense_Mutation_p.R113C|LDHA_uc021qep.1_Missense_Mutation_p.R171C|LDHA_uc010rdd.2_Missense_Mutation_p.R200C	NM_005566	NP_005557	P00338	LDHA_HUMAN	Homo sapiens lactate dehydrogenase A (LDHA), transcript variant 1, mRNA.	171					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12					NADH(DB00157)	AGCCCGATTCCGTTACCTAAT	0.463000														50			19		0	0	0.001882	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049436	36049436	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:36049436G>A	uc003jjz.2	-	3	530	c.398C>T	c.(397-399)tCc>tTc	p.S133F	UGT3A2_uc011cos.2_Missense_Mutation_p.S99F|UGT3A2_uc011cot.2_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	133						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTCTTTAAGGAATCCATGAT	0.348000														33			16		0	0	0.003163	0	0
BRCA2	675	broad.mit.edu	37	13	32929059	32929059	+	Silent	SNP	C	T	T	rs80359636		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:32929059C>T	uc001uub.1	+	13	7296	c.7069C>T	c.(7069-7071)Ctg>Ttg	p.L2357L		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	2357	Interaction with FANCD2.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCAAGAATTTCTGTCTAAATC	0.343000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				22			19		0	0	0.008871	0	0
CA11	770	broad.mit.edu	37	19	49143141	49143141	+	Splice_Site	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:49143141C>T	uc002pjz.1	-	5	1034	c.472_splice	c.e5-1	p.V158_splice	SEC1_uc010xzv.2_Intron|SEC1_uc002pka.3_Intron|SEC1_uc010xzw.2_Intron|SEC1_uc010ema.3_Intron|DBP_uc002pjx.4_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank	NM_001217	NP_001208	O75493	CAH11_HUMAN	Homo sapiens carbonic anhydrase XI (CA11), mRNA.	158						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		TGAGCTGCACCTGGGGGTAGC	0.597000														60			18		0	0	0.006122	0	0
GC	2638	broad.mit.edu	37	4	72620730	72620730	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:72620730C>T	uc010iif.3	-	9	1281	c.1186G>A	c.(1186-1188)Gat>Aat	p.D396N	GC_uc003hge.3_Missense_Mutation_p.D377N|GC_uc021xpb.1_Missense_Mutation_p.D377N	NM_001204307	NP_001191236	P02774	VTDB_HUMAN	Homo sapiens group-specific component (vitamin D binding protein) (GC), transcript variant 3, mRNA.	377	Albumin 3.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TCTTCAACATCACAGCATTCA	0.383000														38			11		0	0	0.002450	0	0
CPA3	1359	broad.mit.edu	37	3	148596449	148596449	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:148596449G>A	uc003ewm.3	+	4	440	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K		NM_001870	NP_001861	P15088	CBPA3_HUMAN	Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA.	130					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)			GGCTTGGACTGAAAAGATGAT	0.284000														102			41		0	0	0.003610	0	0
PCDH15	65217	broad.mit.edu	37	10	55912930	55912930	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:55912930C>T	uc010qhy.1	-	14	2124	c.1729G>A	c.(1729-1731)Gaa>Aaa	p.E577K	PCDH15_uc010qhq.2_Missense_Mutation_p.E577K|PCDH15_uc010qhr.2_Missense_Mutation_p.E572K|PCDH15_uc021pqv.1_Missense_Mutation_p.E572K|PCDH15_uc021pqw.1_Missense_Mutation_p.E584K|PCDH15_uc010qht.2_Missense_Mutation_p.E579K|PCDH15_uc021pqx.1_Missense_Mutation_p.E572K|PCDH15_uc001jjv.1_Missense_Mutation_p.E550K|PCDH15_uc021pqy.1_Missense_Mutation_p.E572K|PCDH15_uc021pqz.1_Missense_Mutation_p.E550K|PCDH15_uc010qhv.1_Missense_Mutation_p.E572K|PCDH15_uc010qhw.1_Missense_Mutation_p.E535K|PCDH15_uc010qhx.1_Missense_Mutation_p.E572K|PCDH15_uc010qhz.1_Missense_Mutation_p.E572K|PCDH15_uc010qia.1_Missense_Mutation_p.E550K|PCDH15_uc001jju.1_Missense_Mutation_p.E572K|PCDH15_uc010qib.1_Missense_Mutation_p.E550K|PCDH15_uc001jjw.3_Missense_Mutation_p.E572K	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	572	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACTATCATTTCCACCCCTGGA	0.478000										HNSCC(58;0.16)				35			24		0	0	0.003330	0	0
FAM217A	222826	broad.mit.edu	37	6	4069555	4069555	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:4069555A>C	uc003mvx.3	-	6	1308	c.902T>G	c.(901-903)aTt>aGt	p.I301S	FAM217A_uc010jnq.1_Intron|FAM217A_uc003mvy.3_Missense_Mutation_p.I238S	NM_173563	NP_775834	Q8IXS0	CF146_HUMAN	Homo sapiens chromosome 6 open reading frame 146 (C6orf146), mRNA.	301																	CTCTTTTTGAATAGTCATATG	0.418000														53			23		0	0	0.003330	0	0
SLC36A1	206358	broad.mit.edu	37	5	150867572	150867572	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:150867572G>A	uc003luc.3	+	10	1405	c.1188G>A	c.(1186-1188)ctG>ctA	p.L396L		NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 1 (SLC36A1), mRNA.	396					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	TCCCCCGCCTGGACCTGGTCA	0.612000														40			23		0	0	0.003954	0	0
MYBPH	4608	broad.mit.edu	37	1	203138156	203138156	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:203138156G>A	uc001gzh.1	-	8	1354	c.1295C>T	c.(1294-1296)tCt>tTt	p.S432F		NM_004997	NP_004988	Q13203	MYBPH_HUMAN	Homo sapiens myosin binding protein H (MYBPH), mRNA.	432	Ig-like C2-type 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GCCTTGCTCAGAGAGGGCGCG	0.552000														97			22		0	0	0.003330	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558910	140558910	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140558910T>C	uc011dai.2	+	0	1540	c.1295T>C	c.(1294-1296)cTg>cCg	p.L432P	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	432	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)			ACACCCAGGCTGACAACACAT	0.532000														263			29		0	0	0.002096	0	0
TSPYL5	85453	broad.mit.edu	37	8	98289664	98289664	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:98289664G>A	uc003yhy.3	-	0	513	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	Homo sapiens TSPY-like 5 (TSPYL5), mRNA.	137					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TTTCCAACGCGGGGGGCATTT	0.677000														26			15		0	0	0.002450	0	0
PASK	23178	broad.mit.edu	37	2	242072401	242072401	+	Nonsense_Mutation	SNP	G	A	A	rs140101325	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:242072401G>A	uc002wao.2	-	8	1484	c.1351C>T	c.(1351-1353)Cga>Tga	p.R451*	PASK_uc010zol.2_Nonsense_Mutation_p.R265*|PASK_uc010zom.2_Nonsense_Mutation_p.R416*|PASK_uc010fzl.2_Nonsense_Mutation_p.R451*|PASK_uc010zon.2_Nonsense_Mutation_p.R232*|PASK_uc021vzf.1_Nonsense_Mutation_p.R451*|PASK_uc002wap.3_5'UTR|PASK_uc002waq.3_Nonsense_Mutation_p.R451*	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	451					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	p.R451L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		ATCTCATCTCGGGGCACAACG	0.532000														47			9		0	0	0.004482	0	0
PADI6	353238	broad.mit.edu	37	1	17698794	17698794	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:17698794C>T	uc001bak.1	+	0	54	c.54C>T	c.(52-54)tcC>tcT	p.S18S		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	10					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TCCACCTGTCCCTGGACAGCC	0.612000														112			57		0	0	0.003610	0	0
PCCA	5095	broad.mit.edu	37	13	100953732	100953732	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:100953732G>A	uc001voo.3	+	12	1190	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	PCCA_uc010aga.3_Missense_Mutation_p.E336K|PCCA_uc010tiz.2_Missense_Mutation_p.E362K	NM_000282	NP_000273	P05165	PCCA_HUMAN	Homo sapiens propionyl CoA carboxylase, alpha polypeptide (PCCA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	362	ATP-grasp.|Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TCCTGTCACAGAATGCATTAC	0.458000														56			47		0	0	0.003610	0	0
RHOH	399	broad.mit.edu	37	4	40245307	40245307	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:40245307G>A	uc003guz.2	+	2	1025	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	RHOH_uc021xnp.1_Missense_Mutation_p.E101K	NM_004310	NP_004301	Q15669	RHOH_HUMAN	Homo sapiens ras homolog gene family, member H (RHOH), mRNA.	101					T cell differentiation|negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|Rho GTPase binding|kinase inhibitor activity			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						GTGGATTGGTGAAATTAGGAG	0.577000														38			9		0	0	0.008291	0	0
ATP10B	23120	broad.mit.edu	37	5	160059330	160059330	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:160059330C>T	uc003lym.1	-	12	2273	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K	ATP10B_uc003lyn.3_Missense_Mutation_p.E34K	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	476					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGGTCCACTCTTCACCATCT	0.537000														79			22		0	0	0.002780	0	0
ARID2	196528	broad.mit.edu	37	12	46230562	46230562	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:46230562C>T	uc001ros.1	+	7	811	c.811C>T	c.(811-813)Cat>Tat	p.H271Y	ARID2_uc001ror.3_Missense_Mutation_p.H271Y|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	271					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTCTTTATTTCATCCACCTCG	0.348000			"""N, S, F"""		hepatocellular carcinoma									56			17		0	0	0.006122	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111595653	111595653	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:111595653G>A	uc003kpv.1	-	7	940	c.666C>T	c.(664-666)ttC>ttT	p.F222F		NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	222	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TTAATCCTAAGAAATACTCAG	0.353000														42			20		0	0	0.002299	0	0
COL4A5	1287	broad.mit.edu	37	X	107840636	107840636	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:107840636C>T	uc022ccg.1	+	23	1819	c.1617C>T	c.(1615-1617)ggC>ggT	p.G539G	COL4A5_uc004enz.1_Silent_p.G539G|COL4A5_uc004eob.1_Silent_p.G147G	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	539	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GTGCTCCAGGCTTTCCTGGAT	0.448000									Alport syndrome with Diffuse Leiomyomatosis					17			62		0	0	0.003610	0	0
CNTN5	53942	broad.mit.edu	37	11	100126491	100126491	+	Splice_Site	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:100126491G>A	uc001pga.3	+	17	2510	c.2006_splice	c.e17-1	p.G669_splice	CNTN5_uc001pfz.3_Splice_Site_p.G669_splice|CNTN5_uc021qpb.1_Splice_Site_p.G669_splice|CNTN5_uc021qpc.1_Splice_Site_p.G595_splice|CNTN5_uc010ruk.2_Splice_Site	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	669					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTGACCTATAGGACCCCCAGG	0.448000														41			11		0	0	0.001368	0	0
DNAH10	196385	broad.mit.edu	37	12	124270434	124270434	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:124270434G>A	uc001uft.4	+	8	1214	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	397	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CATCGCCTGGGAAATCGCTGA	0.498000														54			17		0	0	0.006122	0	0
OBSCN	84033	broad.mit.edu	37	1	228482045	228482045	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:228482045C>T	uc009xez.1	+	41	11368	c.11324C>T	c.(11323-11325)gCt>gTt	p.A3775V	OBSCN_uc001hsn.3_Missense_Mutation_p.A3775V|OBSCN_uc001hsq.1_Missense_Mutation_p.A1031V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3775	Ig-like 38.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGTGGCCTGGCTGTGGTGGAT	0.617000														74			17		0	0	0.004990	0	0
GPA33	10223	broad.mit.edu	37	1	167042666	167042666	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:167042666G>A	uc001gea.1	-	1	498	c.154C>T	c.(154-156)Cga>Tga	p.R52*		NM_005814	NP_005805	Q99795	GPA33_HUMAN	Homo sapiens glycoprotein A33 (transmembrane) (GPA33), mRNA.	52	Ig-like V-type.					integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						AGTCCCTCTCGACTGGAGGTG	0.522000														48			8		0	0	0.003080	0	0
EFNB3	1949	broad.mit.edu	37	17	7608921	7608921	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:7608921G>A	uc002gis.3	+	0	402	c.5G>A	c.(4-6)gGg>gAg	p.G2E		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	Homo sapiens ephrin-B3 (EFNB3), mRNA.	2					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				GGGGTCATGGGGCCCCCCCAT	0.731000														9			3		0	0	0.004672	0	0
TRIM10	10107	broad.mit.edu	37	6	30121774	30121774	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:30121774C>T	uc003npo.3	-	6	1494	c.1418G>A	c.(1417-1419)cGa>cAa	p.R473Q	TRIM10_uc003npn.2_Intron	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	473	B30.2/SPRY.					cytoplasm	zinc ion binding	p.R473Q(1)		ovary(1)	1						ACTGGACCCTCGGCCCCAGAG	0.547000														59			22		0	0	0.002780	0	0
PGK2	5232	broad.mit.edu	37	6	49754071	49754071	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:49754071C>G	uc003ozu.3	-	0	983	c.830G>C	c.(829-831)gGt>gCt	p.G277A		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	277					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AATCCTTACACCATTCTTTTG	0.438000														80			36		0	0	0.003755	0	0
TRPC7	57113	broad.mit.edu	37	5	135693021	135693021	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:135693021C>T	uc003lbn.2	-	1	277	c.55G>A	c.(55-57)Gag>Aag	p.E19K	TRPC7_uc010jef.2_Missense_Mutation_p.E10K|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.E19K|TRPC7_uc010jei.2_Missense_Mutation_p.E19K	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	19					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGGCCCTTCTCCCTCAGCGTT	0.597000														56			27		0	0	0.005443	0	0
LILRB1	10859	broad.mit.edu	37	19	55143641	55143641	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:55143641C>T	uc002qgj.3	+	5	954	c.614C>T	c.(613-615)cCc>cTc	p.P205L	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Missense_Mutation_p.P205L|LILRB1_uc002qgk.3_Missense_Mutation_p.P205L|LILRB1_uc002qgm.3_Missense_Mutation_p.P205L|LILRB1_uc010erq.3_Missense_Mutation_p.P205L|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	205	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.P205L(2)|p.P205T(2)|p.P205P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TCGAACTCTCCCTATGAGTGG	0.607000										HNSCC(37;0.09)				117			33		0	0	0.003755	0	0
TCRA	0	broad.mit.edu	37	14	22447334	22447334	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:22447334G>A	uc010tmm.2	+	1	507	c.315G>A	c.(313-315)acG>acA	p.T105T	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Non-coding_Transcript					Homo sapiens mRNA for unknown variable region, clone: SEB 74.																		TAAGCGACACGGCTGAGTACT	0.478000														26			20		0	0	0.010504	0	0
PKD1L2	114780	broad.mit.edu	37	16	81241209	81241209	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:81241209G>A	uc002fgh.1	-	4	792	c.792C>T	c.(790-792)ttC>ttT	p.F264F	PKD1L2_uc002fgj.3_Silent_p.F264F	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	264					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGTCAAAGATGAAACTCTCAC	0.438000														67			34		0	0	0.004878	0	0
SERPINA6	866	broad.mit.edu	37	14	94772531	94772531	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:94772531C>T	uc001ycv.3	-	3	1013	c.909G>A	c.(907-909)aaG>aaA	p.K303K	SERPINA6_uc010auv.3_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	303					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	AGATGGTGACCTTTGGAATGT	0.552000														32			17		0	0	0.007413	0	0
DCLK1	9201	broad.mit.edu	37	13	36379916	36379916	+	Splice_Site	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:36379916C>T	uc001uvf.3	-	15	2147	c.1864_splice	c.e15-1	p.E622_splice	MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Splice_Site_p.E315_splice|DCLK1_uc010teh.2_Splice_Site_p.E315_splice|DCLK1_uc010abk.3_Splice_Site_p.E142_splice	NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	622	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GTAATGAGCTCCTGTGAAGGG	0.408000														60			32		0	0	0.002445	0	0
HSPA6	3310	broad.mit.edu	37	1	161496303	161496303	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:161496303C>T	uc001gaq.3	+	0	2268	c.1855C>T	c.(1855-1857)Cct>Tct	p.P619S	TRNA_Gly_uc021pdc.1_5'Flank	NM_002155	NP_002146	P17066	HSP76_HUMAN	Homo sapiens heat shock 70kDa protein 6 (HSP70B') (HSPA6), mRNA.	619					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCCTGGTGTCCCTGGGGGCAG	0.602000														24			5		0	0	0.001984	0	0
CLEC18B	497190	broad.mit.edu	37	16	74443494	74443494	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:74443494C>T	uc002fct.3	-	11	1484	c.1284G>A	c.(1282-1284)tgG>tgA	p.W428*	CLEC18B_uc002fcu.3_Nonsense_Mutation_p.W419*	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN	Homo sapiens C-type lectin domain family 18, member B (CLEC18B), mRNA.	428	C-type lectin.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCTGGTCGTTCCAGTTGAAGG	0.597000														57			12		0	0	0.008871	0	0
SH3RF3	344558	broad.mit.edu	37	2	109964283	109964283	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:109964283C>T	uc010ywt.1	+	1	727	c.727C>T	c.(727-729)Ctc>Ttc	p.L243F		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA.	243	SH3 1.						zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						ACAGGGCTTCCTCCCAGCCAG	0.567000														33			7		0	0	0.003080	0	0
HLA-A	3105	broad.mit.edu	37	6	29910549	29910549	+	Missense_Mutation	SNP	G	A	A	rs45585732	by1000genomes	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:29910549G>A	uc003nol.3	+	1	173	c.89G>A	c.(88-90)aGg>aAg	p.R30K	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_Intron|HLA-A_uc021ytz.1_Missense_Mutation_p.R30K|HLA-A_uc010jrq.3_5'UTR|HLA-A_uc003nok.3_5'UTR|HLA-A_uc021yua.1_Silent_p.E73E|HLA-A_uc010klp.2_Missense_Mutation_p.R2K|HLA-A_uc011dmc.2_5'UTR|HLA-A_uc011dmd.2_5'Flank|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	30	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CACTCCATGAGGTATTTCTTC	0.721000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)				19			3		0	0	0.000602	0	0
TRMT2A	27037	broad.mit.edu	37	22	20102123	20102123	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:20102123G>C	uc002zrk.1	-	7	1422	c.1207C>G	c.(1207-1209)Cgg>Ggg	p.R403G	TRMT2A_uc002zrl.1_Missense_Mutation_p.R403G|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.3_5'Flank	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN	Homo sapiens TRM2 tRNA methyltransferase 2 homolog A (S. cerevisiae) (TRMT2A), transcript variant 2, mRNA.	403					RNA processing		RNA binding|RNA methyltransferase activity|nucleotide binding			breast(2)|endometrium(2)|lung(5)	9						GGAGAGATCCGGAAGGTCAGC	0.627000														90			31		0	0	0.004289	0	0
SLC27A6	28965	broad.mit.edu	37	5	128359404	128359404	+	Splice_Site	SNP	G	A	A	rs141842204		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:128359404G>A	uc003kuy.3	+	7	1651	c.1255_splice	c.e7+1	p.G419_splice	SLC27A6_uc003kuz.3_Splice_Site_p.G419_splice	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	419					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)		GTGAAAAAAGGTAAGACTTCT	0.413000														33			23		0	0	0.004656	0	0
PLCE1	51196	broad.mit.edu	37	10	95790885	95790885	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:95790885G>A	uc001kjk.3	+	1	716	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	PLCE1_uc010qnx.2_Missense_Mutation_p.E28K	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	28					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GGCTGCAGATGAAAGTAGTGA	0.423000														19			15		0	0	0.003163	0	0
C1orf27	54953	broad.mit.edu	37	1	186375259	186375259	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:186375259C>T	uc021pgj.1	+	10	1064	c.1045C>T	c.(1045-1047)Ccc>Tcc	p.P349S	MIR548F1_uc021pgf.1_Intron|C1orf27_uc021pgg.1_Silent_p.F348F|C1orf27_uc021pgh.1_Silent_p.F325F|C1orf27_uc021pgi.1_Silent_p.F316F|C1orf27_uc021pgk.1_Missense_Mutation_p.P326S|C1orf27_uc021pgl.1_Missense_Mutation_p.P317S	NM_017847	NP_060317	Q5SWX8	ODR4_HUMAN	Homo sapiens chromosome 1 open reading frame 27 (C1orf27), transcript variant 1, mRNA.	349						integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						AGTCTTTGTTCCCCTTCCTGG	0.373000														45			28		0	0	0.007291	0	0
EPB41	2035	broad.mit.edu	37	1	29342210	29342210	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:29342210C>T	uc001brm.2	+	5	963	c.836C>T	c.(835-837)cCt>cTt	p.P279L	EPB41_uc001brg.2_Missense_Mutation_p.P70L|EPB41_uc001brh.2_Missense_Mutation_p.P70L|EPB41_uc001brj.2_Missense_Mutation_p.P70L|EPB41_uc001bri.2_Missense_Mutation_p.P244L|EPB41_uc009vtk.2_Missense_Mutation_p.P244L|EPB41_uc001brk.3_Missense_Mutation_p.P279L|EPB41_uc001brl.2_Missense_Mutation_p.P279L|EPB41_uc021okg.1_Missense_Mutation_p.P279L|EPB41_uc009vtm.2_5'UTR|EPB41_uc009vtl.2_Missense_Mutation_p.P70L	NM_001166005	NP_001159477	P11171	41_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41), transcript variant 1, mRNA.	279	FERM.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	Golgi apparatus|extrinsic to membrane|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		ATAGGTGTCCCTTGGAATTTT	0.269000														31			7		0	0	0.001984	0	0
PDE6H	5149	broad.mit.edu	37	12	15134401	15134401	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:15134401G>A	uc001rcr.3	+	3	349	c.243G>A	c.(241-243)ggG>ggA	p.G81G		NM_006205	NP_006196	Q13956	CNCG_HUMAN	Homo sapiens phosphodiesterase 6H, cGMP-specific, cone, gamma (PDE6H), mRNA.	81					visual perception		3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity	p.G81G(4)|p.F80Y(1)		endometrium(1)|lung(6)|ovary(1)|skin(2)	10						CTCAGTTTGGGATTATCTGAA	0.473000														28			25		0	0	0.004656	0	0
IGSF21	84966	broad.mit.edu	37	1	18661444	18661444	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:18661444G>A	uc001bau.2	+	3	747	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	122	Ig-like 1.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GGGCATCTACGACCGCGCCAC	0.622000														30			15		0	0	0.003163	0	0
CATSPERG	57828	broad.mit.edu	37	19	38858385	38858385	+	Missense_Mutation	SNP	G	A	A	rs147603617		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:38858385G>A	uc002oih.4	+	24	2986	c.2899G>A	c.(2899-2901)Gaa>Aaa	p.E967K	CATSPERG_uc002oig.4_Missense_Mutation_p.E927K|CATSPERG_uc002oif.4_Missense_Mutation_p.E607K|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	967					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CAGTGAGGACGAAATCTACCG	0.592000														189			91		0	0	0.003610	0	0
ZFP64	55734	broad.mit.edu	37	20	50701142	50701142	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:50701142G>A	uc002xwk.3	-	8	2241	c.1892C>T	c.(1891-1893)tCc>tTc	p.S631F	ZFP64_uc002xwj.3_Missense_Mutation_p.S412F	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 4, mRNA.	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGCCCCACGGAGACCAGGGT	0.597000														41			32		0	0	0.004878	0	0
STAB1	23166	broad.mit.edu	37	3	52550252	52550252	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:52550252G>A	uc003dej.3	+	37	4216	c.4142G>A	c.(4141-4143)gGa>gAa	p.G1381E	STAB1_uc003dek.1_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1381	Laminin EGF-like 1.				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)		AACTGCACCGGAGGTGAGGAC	0.687000														23			18		0	0	0.007413	0	0
SYNPO2	171024	broad.mit.edu	37	4	119948253	119948253	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:119948253G>A	uc010inb.3	+	2	925	c.729G>A	c.(727-729)tcG>tcA	p.S243S	SYNPO2_uc010ina.3_Silent_p.S243S|SYNPO2_uc003icm.4_Silent_p.S243S|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Silent_p.S171S	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	243						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.S243S(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACATAAATTCGATCCCTACTA	0.493000														22			4		0	0	0.009096	0	0
BAIAP2L2	80115	broad.mit.edu	37	22	38503919	38503919	+	Splice_Site	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:38503919C>T	uc003auw.3	-	4	359	c.215_splice	c.e4-1	p.G72_splice		NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	Homo sapiens BAI1-associated protein 2-like 2 (BAIAP2L2), mRNA.	72	IMD.				filopodium assembly|signal transduction		SH3 domain binding|cytoskeletal adaptor activity			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					CCAAGATCTCCCCTGGAGGCA	0.637000														53			18		0	0	0.004990	0	0
ITGA4	3676	broad.mit.edu	37	2	182396465	182396465	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:182396465C>T	uc002unu.3	+	24	3509	c.2746C>T	c.(2746-2748)Cat>Tat	p.H916Y	ITGA4_uc002unv.3_Missense_Mutation_p.H161Y	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	916					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AGCCAGTGTTCATATCCAACT	0.343000														97			45		0	0	0.003610	0	0
SPP2	6694	broad.mit.edu	37	2	234969093	234969093	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:234969093C>T	uc002vvk.1	+	3	499	c.414C>T	c.(412-414)tcC>tcT	p.S138S	SPP2_uc010fyl.1_Silent_p.S58S	NM_006944	NP_008875	Q13103	SPP24_HUMAN	Homo sapiens secreted phosphoprotein 2, 24kDa (SPP2), mRNA.	138					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		GCTGGTCCTCCTCCACGTCTG	0.567000														21			20		0	0	0.008871	0	0
PCDH15	65217	broad.mit.edu	37	10	55582354	55582354	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:55582354G>A	uc010qhy.1	-	34	5548	c.5153C>T	c.(5152-5154)tCa>tTa	p.S1718L	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.S1713L|PCDH15_uc021pqz.1_Missense_Mutation_p.S1688L|PCDH15_uc010qhv.1_Missense_Mutation_p.S1708L|PCDH15_uc010qhw.1_Missense_Mutation_p.S1671L|PCDH15_uc010qhx.1_Missense_Mutation_p.S1642L|PCDH15_uc010qhz.1_Missense_Mutation_p.S1713L|PCDH15_uc010qia.1_Missense_Mutation_p.S1691L|PCDH15_uc001jju.1_Missense_Mutation_p.S1711L|PCDH15_uc010qib.1_Missense_Mutation_p.S1688L	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1711					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCTAGAGAGTGAAGAATGTAA	0.398000										HNSCC(58;0.16)				17			10		0	0	0.006214	0	0
DPPA3	359787	broad.mit.edu	37	14	36840903	36840903	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:36840903G>A	uc001wtp.3	+	0	534	c.285G>A	c.(283-285)aaG>aaA	p.K95K		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	95						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		AGAGAGAAAAGATGGCAAGAT	0.483000														24			15		0	0	0.003163	0	0
OR4D5	219875	broad.mit.edu	37	11	123811214	123811214	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:123811214C>T	uc001pzk.1	+	0	891	c.891C>T	c.(889-891)gcC>gcT	p.A297A		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGATCATGGCCATGAAGAAGC	0.498000														79			45		0	0	0.003610	0	0
TAS2R42	353164	broad.mit.edu	37	12	11339534	11339534	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:11339534C>T	uc001qzr.1	-	0	10	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	PRB4_uc001qzf.1_Intron	NM_181429	NP_852094	Q7RTR8	T2R42_HUMAN	Homo sapiens taste receptor, type 2, member 42 (TAS2R42), mRNA.	4					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.E4D(1)		breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			TTGTCCAATTCGGTGGCCATC	0.368000														43			31		0	0	0.002096	0	0
RBM44	375316	broad.mit.edu	37	2	238722236	238722236	+	Splice_Site	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:238722236T>A	uc002vxi.4	+	2	118	c.-14_splice	c.e2-1			NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.								RNA binding|nucleotide binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		CTTTTCTAGATTATATATCTT	0.348000														8			9		0	0	0.004482	0	0
TIGD6	81789	broad.mit.edu	37	5	149375197	149375197	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:149375197T>C	uc003lri.3	-	1	1477	c.715A>G	c.(715-717)Aag>Gag	p.K239E	TIGD6_uc003lrj.3_Missense_Mutation_p.K239E|TIGD6_uc021yft.1_Missense_Mutation_p.K239E	NM_001243253	NP_001230182	Q17RP2	TIGD6_HUMAN	Homo sapiens tigger transposable element derived 6 (TIGD6), transcript variant 2, mRNA.	239	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGAATGTTCTTGAGGCAGTGT	0.498000														32			14		0	0	0.003163	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256521	24256521	+	Silent	SNP	G	A	A	rs141164035		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:24256521G>A	uc003xdz.2	+	8	1117	c.897G>A	c.(895-897)ggG>ggA	p.G299G	ADAMDEC1_uc010lub.2_Silent_p.G220G|ADAMDEC1_uc011lab.1_Silent_p.G220G	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	299	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.G299G(2)		NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CTAACCTGGGGAAAAAGATCC	0.512000														44			14		0	0	0.003163	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18636920	18636920	+	Missense_Mutation	SNP	G	A	A	rs138155181	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:18636920G>A	uc001moy.3	-	2	1117	c.901C>T	c.(901-903)Cgt>Tgt	p.R301C	SPTY2D1_uc010rdi.1_Missense_Mutation_p.R301C	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	Homo sapiens SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) (SPTY2D1), mRNA.	301	Ser-rich.							p.R301C(6)		breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TGGCCCTCACGAAGTGAGGGT	0.507000														97			31		0	0	0.009535	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113520099	113520099	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:113520099G>A	uc010ljy.1	-	3	1079	c.1048C>T	c.(1048-1050)Cca>Tca	p.P350S		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	350					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GCTTTATTTGGAAAATTGACT	0.373000														78			75		0	0	0.003610	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723340	58723340	+	Missense_Mutation	SNP	G	A	A	rs145479301	by1000genomes	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:58723340G>A	uc001nnh.2	+	6	892	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	GLYATL1_uc001nnf.3_Missense_Mutation_p.R250Q|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Missense_Mutation_p.R250Q|GLYATL1_uc001nnj.2_Missense_Mutation_p.R250Q	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	250						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GTGATGGTGCGATACATGAAA	0.453000														31			15		0	0	0.004007	0	0
CABIN1	23523	broad.mit.edu	37	22	24560498	24560498	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:24560498C>T	uc002zzi.1	+	29	5004	c.4877C>T	c.(4876-4878)tCc>tTc	p.S1626F	CABIN1_uc021wnc.1_Missense_Mutation_p.S1576F|CABIN1_uc002zzj.1_Missense_Mutation_p.S1547F|CABIN1_uc002zzl.2_Missense_Mutation_p.S1626F|CABIN1_uc002zzm.1_Missense_Mutation_p.S51F	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	1626					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGAAGGTGTCCTCCATGCTT	0.652000														26			24		0	0	0.003330	0	0
S100A6	6277	broad.mit.edu	37	1	153507797	153507797	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:153507797G>A	uc001fbw.1	-	1	333	c.19C>T	c.(19-21)Cag>Tag	p.Q7*		NM_014624	NP_055439	P06703	S10A6_HUMAN	Homo sapiens S100 calcium binding protein A6 (S100A6), mRNA.	7					axonogenesis|positive regulation of fibroblast proliferation|signal transduction	cytosol|extrinsic to internal side of plasma membrane|nuclear envelope|perinuclear region of cytoplasm|ruffle	S100 beta binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|tropomyosin binding			ovary(1)	1	all_lung(78;1.66e-32)|Lung NSC(65;5.71e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAATGGCCTGATCCAGGGGG	0.607000														44			32		0	0	0.003755	0	0
DMXL2	23312	broad.mit.edu	37	15	51766543	51766543	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:51766543G>A	uc010ufy.2	-	27	7436	c.7211C>T	c.(7210-7212)tCa>tTa	p.S2404L	DMXL2_uc002abd.3_Missense_Mutation_p.S474L|DMXL2_uc002abf.3_Missense_Mutation_p.S2403L|DMXL2_uc010bfa.3_Missense_Mutation_p.S1767L	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	2403						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TATCTTACCTGAAATATTTTC	0.328000														46			20		0	0	0.010504	0	0
TMEM14E	645843	broad.mit.edu	37	3	152058585	152058585	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:152058585G>T	uc010hvo.3	-	0	195	c.109C>A	c.(109-111)Cag>Aag	p.Q37K	MBNL1_uc003ezh.3_Intron|MBNL1_uc003ezi.3_Intron|MBNL1_uc003ezj.3_Intron|MBNL1_uc003ezm.3_Intron|MBNL1_uc003ezl.3_Intron|MBNL1_uc003ezp.3_Intron|MBNL1_uc003ezn.3_Intron|MBNL1_uc003ezo.3_Intron	NM_001123228	NP_001116700	Q6UXP3	TM14E_HUMAN	Homo sapiens transmembrane protein 14E (TMEM14E), mRNA.	37						integral to membrane				lung(1)	1						GAAGGGGACTGGACAGAACCT	0.502000														44			21		1.37657e-19	1.5845e-19	0.001882	1	0
AMIGO3	386724	broad.mit.edu	37	3	49756836	49756836	+	Silent	SNP	C	T	T	rs140696690		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:49756836C>T	uc003cxj.3	-	0	403	c.63G>A	c.(61-63)ccG>ccA	p.P21P	RNF123_uc003cxh.3_Intron|RNF123_uc003cxi.3_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 3 (AMIGO3), mRNA.	21					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCTCGGAGTCCGGGGTGCCTA	0.642000											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			22		0	0	0.001882	0	0
COL3A1	1281	broad.mit.edu	37	2	189854874	189854874	+	Splice_Site	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:189854874C>T	uc002uqj.1	+	9	861	c.744_splice	c.e9+1	p.P248_splice	COL3A1_uc010frw.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	248	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			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)	CCTGGACCTCCAGTGAGTCTT	0.368000														55			20		0	0	0.008871	0	0
OR4D9	390199	broad.mit.edu	37	11	59282987	59282987	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:59282987C>T	uc010rkv.2	+	0	602	c.602C>T	c.(601-603)tCa>tTa	p.S201L		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CTGATGATTTCAAATAATGGG	0.473000														83			18		0	0	0.004990	0	0
TAAR2	9287	broad.mit.edu	37	6	132939145	132939145	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:132939145G>A	uc003qdl.1	-	1	200	c.200C>T	c.(199-201)tCc>tTc	p.S67F	TAAR2_uc010kfr.1_Missense_Mutation_p.S22F	NM_001033080	NP_055441	Q9P1P5	TAAR2_HUMAN	Homo sapiens trace amine associated receptor 2 (TAAR2), transcript variant 1, mRNA.	67						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		GTAGGAAATGGAAATTATCAT	0.428000														34			27		0	0	0.005443	0	0
ABCA10	10349	broad.mit.edu	37	17	67178296	67178296	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:67178296G>A	uc010dfa.1	-	22	3646	c.2767C>T	c.(2767-2769)Cgt>Tgt	p.R923C	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Missense_Mutation_p.R524C	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	923					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CTACTTACACGAGAAAATGAA	0.393000														21			8		0	0	0.003080	0	0
COL4A4	1286	broad.mit.edu	37	2	227875162	227875162	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:227875162G>A	uc021vxr.1	-	44	4490	c.4389C>T	c.(4387-4389)ctC>ctT	p.L1463L	COL4A4_uc021vxs.1_Silent_p.L1460L	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1463					axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGAAGCCACCGAGGTATCCAG	0.587000														25			16		0	0	0.003163	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55052317	55052317	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:55052317G>A	uc003dhf.3	+	34	3008	c.2960G>A	c.(2959-2961)gGg>gAg	p.G987E	CACNA2D3_uc003dhg.1_Missense_Mutation_p.G893E|CACNA2D3_uc003dhh.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	987						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.G987>?(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GAGACTACAGGGAATATTGCT	0.512000														20			11		0	0	0.000978	0	0
OSBPL9	114883	broad.mit.edu	37	1	52249660	52249660	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:52249660C>T	uc001cst.3	+	17	1824	c.1641C>T	c.(1639-1641)ttC>ttT	p.F547F	OSBPL9_uc001css.3_Silent_p.F534F|OSBPL9_uc009vza.3_Silent_p.F512F|OSBPL9_uc001csu.3_Silent_p.F539F|OSBPL9_uc001csv.3_Silent_p.F364F|OSBPL9_uc001csw.3_Silent_p.F516F|OSBPL9_uc001csy.3_Silent_p.F351F|OSBPL9_uc001csz.3_Silent_p.F351F|OSBPL9_uc001cta.3_Silent_p.F419F|OSBPL9_uc001ctb.3_Silent_p.F314F	NM_024586	NP_078862	Q96SU4	OSBL9_HUMAN	Homo sapiens oxysterol binding protein-like 9 (OSBPL9), transcript variant 6, mRNA.	529					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						AATCAAAATTCCTTGGGATGT	0.368000														53			16		0	0	0.007413	0	0
ITGAD	3681	broad.mit.edu	37	16	31434754	31434754	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:31434754G>A	uc010cap.1	+	24	2993	c.2944G>A	c.(2944-2946)Gat>Aat	p.D982N	ITGAD_uc002ebv.1_Missense_Mutation_p.D981N	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	981					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGCTGTGTGGGATGTGGTCAT	0.547000														34			31		0	0	0.002096	0	0
ZNF560	147741	broad.mit.edu	37	19	9577542	9577542	+	Missense_Mutation	SNP	C	T	T	rs148650284		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9577542C>T	uc002mlp.1	-	9	2291	c.2081G>A	c.(2080-2082)cGa>cAa	p.R694Q	ZNF560_uc010dwr.1_Missense_Mutation_p.R588Q	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	694					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R694Q(2)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CATGGAATTTCGAAAGGAATT	0.378000														94			59		0	0	0.003610	0	0
SLC6A5	9152	broad.mit.edu	37	11	20623094	20623094	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:20623094G>A	uc001mqd.3	+	1	696	c.423G>A	c.(421-423)ctG>ctA	p.L141L	SLC6A5_uc009yic.3_5'UTR	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	141					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AGGGCACCCTGGAGCGGAACA	0.662000														28			15		0	0	0.004007	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481409	140481409	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140481409C>T	uc003lio.3	+	0	1176	c.1176C>T	c.(1174-1176)ttC>ttT	p.F392F	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	392	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCCTTCTTCCTGAAACCAT	0.468000														50			19		0	0	0.008871	0	0
LOC401127	401127	broad.mit.edu	37	4	39482269	39482269	+	RNA	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:39482269C>T	uc011byn.2	+	0		c.395C>T								Homo sapiens WD repeat domain 5 pseudogene (LOC401127), non-coding RNA.																		GAAATTCAGCCCGAATGGAGA	0.493000														28			29		0	0	0.002445	0	0
SDPR	8436	broad.mit.edu	37	2	192711221	192711221	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:192711221T>G	uc002utb.3	-	0	786	c.431A>C	c.(430-432)aAc>aCc	p.N144T		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	144						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)	GGCGTGGTTGTTCTCCAGCCG	0.597000														23			16		0	0	0.004007	0	0
DIS3	22894	broad.mit.edu	37	13	73350187	73350187	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:73350187G>A	uc001vix.4	-	4	1072	c.698C>T	c.(697-699)cCc>cTc	p.P233L	DIS3_uc001viy.4_Missense_Mutation_p.P203L|DIS3_uc001viz.3_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.	233					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|RNA binding|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CTTACTTAAGGGAAGATGCTC	0.353000										Multiple Myeloma(4;0.011)				16			11		0	0	0.000978	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140220982	140220983	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140220982_140220983GT>AA	uc003lhs.2	+	0	76_77	c.76_77GT>AA	c.(76-78)gtg>AAg	p.V26K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.V26K	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	39					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCTGGAAGGTGGGGAGCGGC	0.609000														43			22		0	0	0.004672	0	0
C4orf50	389197	broad.mit.edu	37	4	5961233	5961233	+	RNA	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:5961233G>A	uc003git.2	-	6		c.1998C>T						Q6ZRC1	CD050_HUMAN	Homo sapiens cDNA FLJ46481 fis, clone THYMU3025772.											breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TTATCGACTTGGAGGGCAGGA	0.567000														68			12		0	0	0.001368	0	0
ZNF474	133923	broad.mit.edu	37	5	121488390	121488390	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:121488390C>T	uc003ksv.3	+	1	1081	c.705C>T	c.(703-705)tcC>tcT	p.S235S	ZNF474_uc021ycy.1_Silent_p.S235S	NM_207317	NP_997200	Q6S9Z5	ZN474_HUMAN	Homo sapiens zinc finger protein 474 (ZNF474), mRNA.	235						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		GCACCCTGTCCCTTCCTATTC	0.522000														80			48		0	0	0.003610	0	0
DCP1A	55802	broad.mit.edu	37	3	53326711	53326711	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:53326711G>A	uc021wzi.1	-	6	881	c.771C>T	c.(769-771)ttC>ttT	p.F257F	DCP1A_uc021wzk.1_Silent_p.F219F	NM_018403	NP_060873	Q9NPI6	DCP1A_HUMAN	Homo sapiens DCP1 decapping enzyme homolog A (S. cerevisiae) (DCP1A), mRNA.	257					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		GAAATGGTAGGAATGAATTGG	0.522000														19			6		0	0	0.001168	0	0
NT5C2	22978	broad.mit.edu	37	10	104859732	104859732	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:104859732C>T	uc001kwo.3	-	8	777	c.584G>A	c.(583-585)cGg>cAg	p.R195Q	NT5C2_uc010qqp.2_Missense_Mutation_p.R166Q|NT5C2_uc001kwq.3_Missense_Mutation_p.R195Q|NT5C2_uc001kwp.3_Missense_Mutation_p.R42Q	NM_012229	NP_036361	P49902	5NTC_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic II (NT5C2), transcript variant 1, mRNA.	195					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	GAACATACTCCGGTAGGACAT	0.398000														45			35		0	0	0.005524	0	0
KIRREL3	84623	broad.mit.edu	37	11	126432784	126432784	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:126432784A>T	uc001qea.3	-	1	440	c.79T>A	c.(79-81)Tgc>Agc	p.C27S	KIRREL3_uc001qeb.3_Missense_Mutation_p.C27S|KIRREL3_uc001qec.1_Missense_Mutation_p.C27S|KIRREL3_uc001qed.4_Non-coding_Transcript	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	Homo sapiens kin of IRRE like 3 (Drosophila) (KIRREL3), transcript variant 1, mRNA.	27					hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		ACCAGACAGCATCCTCTCTTC	0.567000														37			13		0	0	0.003163	0	0
ATXN2L	11273	broad.mit.edu	37	16	28847424	28847424	+	Silent	SNP	C	T	T	rs1140135		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:28847424C>T	uc002dqy.3	+	21	3233	c.3066C>T	c.(3064-3066)ccC>ccT	p.P1022P	NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Silent_p.P1022P|ATXN2L_uc002dra.3_Silent_p.P1022P|ATXN2L_uc002drb.3_Silent_p.P1022P|ATXN2L_uc002drc.3_Silent_p.P1022P|ATXN2L_uc010vdb.2_Silent_p.P1028P|ATXN2L_uc002dre.3_Silent_p.P1022P|ATXN2L_uc002drf.3_Silent_p.P431P|ATXN2L_uc002drg.3_Silent_p.P305P	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	1022						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CACCCTACCCCTACATCGGAC	0.637000														33			23		0	0	0.002780	0	0
PRKY	5616	broad.mit.edu	37	Y	7224202	7224202	+	RNA	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrY:7224202C>T	uc004fre.3	+	4		c.1087C>T								Homo sapiens protein kinase, Y-linked, pseudogene (PRKY), non-coding RNA.											large_intestine(2)|lung(3)|skin(1)	6						GATGACAACCCGTTTGGCATT	0.373000														5			6		0	0	0.001984	0	0
CAMTA1	23261	broad.mit.edu	37	1	7725010	7725010	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:7725010G>A	uc001aoi.3	+	8	2610	c.2403G>A	c.(2401-2403)acG>acA	p.T801T		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	801					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGGACAGCACGGCGCTCTCAC	0.652000			T	WWTR1	epitheliod hemangioendothelioma									178			95		0	0	0.003610	0	0
HAL	3034	broad.mit.edu	37	12	96370431	96370431	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:96370431G>A	uc001tem.1	-	18	2005	c.1708C>T	c.(1708-1710)Ctg>Ttg	p.L570L	HAL_uc010sux.1_Silent_p.L570L|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_Silent_p.L362L	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	570					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GTTGTTTTCAGGGGACGTAGA	0.478000														40			101		0	0	0.003610	0	0
MEP1A	4224	broad.mit.edu	37	6	46801146	46801146	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:46801146G>A	uc011dwh.1	+	9	1572	c.1564G>A	c.(1564-1566)Gat>Aat	p.D522N	MEP1A_uc010jzh.1_Missense_Mutation_p.D494N|MEP1A_uc011dwg.1_Missense_Mutation_p.D216N|MEP1A_uc011dwi.1_Missense_Mutation_p.D394N	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	494	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TGGGGAGAACGATGCTATCCT	0.473000														101			47		0	0	0.003610	0	0
GUCY2D	3000	broad.mit.edu	37	17	7915790	7915790	+	Missense_Mutation	SNP	G	A	A	rs61750162		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:7915790G>A	uc002gjt.2	+	9	2053	c.1979G>A	c.(1978-1980)cGa>cAa	p.R660Q		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	Homo sapiens guanylate cyclase 2D, membrane (retina-specific) (GUCY2D), mRNA.	660	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				CTGCACCATCGAGGCGTGGCT	0.587000														81			19		0	0	0.007413	0	0
IGSF8	93185	broad.mit.edu	37	1	160062789	160062789	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:160062789G>A	uc001fva.3	-	3	1282	c.1237C>T	c.(1237-1239)Cga>Tga	p.R413*	IGSF8_uc001fuz.3_Nonsense_Mutation_p.R413*|IGSF8_uc009wtf.3_Nonsense_Mutation_p.R413*	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	Homo sapiens immunoglobulin superfamily, member 8 (IGSF8), transcript variant 1, mRNA.	413	Ig-like C2-type 3.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCAGACCCTCGAACATAGGCT	0.652000														16			13		0	0	0.001855	0	0
TOM1L2	146691	broad.mit.edu	37	17	17751084	17751084	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:17751084G>A	uc002grz.4	-	14	1546	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	TOM1L2_uc002gry.4_Silent_p.F413F|TOM1L2_uc010vwy.2_Silent_p.F439F|TOM1L2_uc010cpr.3_Silent_p.F418F|TOM1L2_uc010vwz.2_Silent_p.F344F|TOM1L2_uc010vxa.2_Silent_p.F345F|TOM1L2_uc002grv.4_Silent_p.F196F	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	Homo sapiens target of myb1-like 2 (chicken) (TOM1L2), transcript variant 3, mRNA.	463					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					TTTCTTCAAGGAATTTATCAA	0.582000														45			35		0	0	0.006999	0	0
TCF20	6942	broad.mit.edu	37	22	42606728	42606728	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:42606728G>A	uc003bcj.1	-	0	4718	c.4584C>T	c.(4582-4584)ttC>ttT	p.F1528F	TCF20_uc003bck.1_Silent_p.F1528F	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	1528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CCTTTGGAGGGAAACCCTCTT	0.517000														49			27		0	0	0.006320	0	0
ARMCX5-GPRASP2	100528062	broad.mit.edu	37	X	101972234	101972234	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:101972234C>T	uc022cbh.1	+	0	2437	c.2437C>T	c.(2437-2439)Cgt>Tgt	p.R813C	ARMCX5-GPRASP2_uc022cay.1_Missense_Mutation_p.R813C|ARMCX5-GPRASP2_uc022cbe.1_Missense_Mutation_p.R813C|ARMCX5-GPRASP2_uc004ejl.3_Missense_Mutation_p.R813C|ARMCX5-GPRASP2_uc022cbf.1_Missense_Mutation_p.R813C|ARMCX5-GPRASP2_uc022cbg.1_Missense_Mutation_p.R813C|ARMCX5-GPRASP2_uc004ejm.3_Missense_Mutation_p.R813C|ARMCX5-GPRASP2_uc004ejk.3_Missense_Mutation_p.R813C	NM_001199818	NP_001186747	Q96D09	GASP2_HUMAN	Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA.	813						cytoplasm	protein binding										TTCTGCATTTCGTGAATTTGA	0.358000														41			63		0	0	0.003610	0	0
ARNTL2	56938	broad.mit.edu	37	12	27568836	27568836	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:27568836C>T	uc001rht.2	+	14	1840	c.1621C>T	c.(1621-1623)Cca>Tca	p.P541S	ARNTL2_uc001rhu.2_Missense_Mutation_p.P527S|ARNTL2_uc001rhv.2_Missense_Mutation_p.P493S|ARNTL2_uc001rhw.3_Missense_Mutation_p.P504S|ARNTL2_uc010sjp.2_Missense_Mutation_p.P504S|ARNTL2_uc009zji.2_Missense_Mutation_p.P507S|BC043511_uc001rhx.3_Intron	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2), transcript variant 1, mRNA.	541					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					TGATTCGAGTCCAACAGGTTT	0.274000														49			12		0	0	0.003163	0	0
KIAA1009	22832	broad.mit.edu	37	6	84895009	84895009	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:84895009G>A	uc010kbp.3	-	12	1656	c.1559C>T	c.(1558-1560)tCa>tTa	p.S520L	KIAA1009_uc003pkj.4_Missense_Mutation_p.S444L|KIAA1009_uc003pkk.2_Missense_Mutation_p.S520L|KIAA1009_uc003pki.4_5'UTR	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	520					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CTTGAGTGGTGAACTGGGTTT	0.408000														121			56		0	0	0.003610	0	0
GPN1	11321	broad.mit.edu	37	2	27858050	27858050	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:27858050C>T	uc010ymc.2	+	6	536	c.515C>T	c.(514-516)tCg>tTg	p.S172L	ZNF512_uc010yly.1_Non-coding_Transcript|GPN1_uc010ezf.3_Missense_Mutation_p.S146L|GPN1_uc010yma.2_Missense_Mutation_p.S79L|GPN1_uc010ymb.2_Missense_Mutation_p.S63L|GPN1_uc010ymd.2_Missense_Mutation_p.S53L|GPN1_uc010ezg.1_Missense_Mutation_p.S53L	NM_007266	NP_001138520	Q9HCN4	GPN1_HUMAN	Homo sapiens GPN-loop GTPase 1 (GPN1), transcript variant 1, mRNA.	158						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|large_intestine(1)|lung(12)	14						ATGGACACATCGAGAAGTACC	0.448000														43			19		0	0	0.001882	0	0
TAS2R14	50840	broad.mit.edu	37	12	11091096	11091096	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:11091096G>A	uc010shi.2	-	0	711	c.711C>T	c.(709-711)ttC>ttT	p.F237F	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Non-coding_Transcript	NM_023922	NP_076411	Q9NYV8	T2R14_HUMAN	Homo sapiens taste receptor, type 2, member 14 (TAS2R14), mRNA.	237					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						CATAGAGTAGGAAGAAAGTGA	0.433000														20			19		0	0	0.007413	0	0
CRB1	23418	broad.mit.edu	37	1	197390617	197390617	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:197390617G>A	uc001gtz.3	+	5	1868	c.1659G>A	c.(1657-1659)aaG>aaA	p.K553K	CRB1_uc010poz.2_Silent_p.K484K|CRB1_uc009wza.3_Silent_p.K441K|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.K553K|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Silent_p.K34K|CRB1_uc001gub.1_Silent_p.K202K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	553	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATCAGTCAAAGGTGCTTCTGT	0.458000														61			34		0	0	0.007835	0	0
SPEG	10290	broad.mit.edu	37	2	220354205	220354205	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:220354205C>T	uc010fwg.3	+	35	8465	c.8465C>T	c.(8464-8466)tCa>tTa	p.S2822L		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2822	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GTCAGCCCCTCATCTCCCCCC	0.677000														37			7		0	0	0.001984	0	0
WNK4	65266	broad.mit.edu	37	17	40940333	40940333	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:40940333C>T	uc002ibj.3	+	9	2016	c.1948C>T	c.(1948-1950)Ctt>Ttt	p.L650F	WNK4_uc010wgx.2_Missense_Mutation_p.L314F|WNK4_uc002ibk.1_Missense_Mutation_p.L422F|WNK4_uc010wgy.1_5'UTR	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	650					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGCTTCAGGCCTTAGCGATGT	0.577000														51			10		0	0	0.000978	0	0
LRRC8D	55144	broad.mit.edu	37	1	90401047	90401047	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:90401047G>A	uc021opq.1	+	0	2420	c.2420G>A	c.(2419-2421)gGg>gAg	p.G807E	LRRC8D_uc001dnm.3_Missense_Mutation_p.G807E|LRRC8D_uc001dnn.3_Missense_Mutation_p.G807E	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA.	807						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GAGCTGAAGGGGAACTGCTTG	0.542000														25			20		0	0	0.001882	0	0
CHD4	1108	broad.mit.edu	37	12	6682350	6682350	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:6682350A>G	uc001qpo.3	-	37	5611	c.5447T>C	c.(5446-5448)aTg>aCg	p.M1816T	CHD4_uc001qpn.3_Missense_Mutation_p.M1809T|CHD4_uc001qpp.3_Missense_Mutation_p.M1841T	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	1816	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GTTGAGGGCCATGGAAGGGTG	0.532000														97			31		0	0	0.002445	0	0
PTPN6	5777	broad.mit.edu	37	12	7069123	7069123	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:7069123C>T	uc001qsb.2	+	11	1637	c.1395C>T	c.(1393-1395)gtC>gtT	p.V465V	PTPN6_uc001qsa.1_Silent_p.V467V|PTPN6_uc010sfr.1_Silent_p.V426V|PTPN6_uc009zfl.1_Silent_p.V465V|PTPN6_uc010sfs.1_Silent_p.V453V	NM_002831	NP_002822	P29350	PTN6_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 6 (PTPN6), transcript variant 1, mRNA.	465	Tyrosine-protein phosphatase.				G-protein coupled receptor protein signaling pathway|T cell costimulation|apoptosis|cell junction assembly|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CCATCATTGTCATCGACATGC	0.667000														116			38		0	0	0.002522	0	0
LRRC37B	114659	broad.mit.edu	37	17	30358412	30358412	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:30358412T>A	uc002hgu.3	+	4	1922	c.1911T>A	c.(1909-1911)aaT>aaA	p.N637K	LRRC37B_uc010wbx.2_Missense_Mutation_p.N555K|LRRC37B_uc010csu.3_Intron	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	Homo sapiens leucine rich repeat containing 37B (LRRC37B), mRNA.	637						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TGGGCTGCAATTTAATTACAA	0.343000														54			8		0	0	0.004482	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50462659	50462659	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:50462659T>C	uc010ybh.2	-	4	1106	c.1015A>G	c.(1015-1017)Agg>Ggg	p.R339G	SIGLEC11_uc010ybi.2_Missense_Mutation_p.R339G	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	339	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GAGCCAAGCCTGTTCTCCGCT	0.672000														70			30		0	0	0.002445	0	0
PSD4	23550	broad.mit.edu	37	2	113943683	113943683	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:113943683G>A	uc002tjc.3	+	4	1662	c.1479G>A	c.(1477-1479)ttG>ttA	p.L493L	PSD4_uc002tjd.3_Silent_p.L114L|PSD4_uc002tje.3_Silent_p.L464L|PSD4_uc002tjf.3_Silent_p.L114L	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	493					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTCACTCTTGGAGACGGATG	0.567000														71			16		0	0	0.008871	0	0
CILP2	148113	broad.mit.edu	37	19	19655734	19655734	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:19655734C>T	uc002nmw.4	+	7	2483	c.2398C>T	c.(2398-2400)Ccc>Tcc	p.P800S	CILP2_uc002nmv.4_Missense_Mutation_p.P794S	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	794						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CGCCTGCCTCCCCGCCTTCTG	0.746000														16			3		0	0	0.009096	0	0
MMP8	4317	broad.mit.edu	37	11	102592240	102592240	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:102592240G>A	uc001phe.2	-	3	613	c.514C>T	c.(514-516)Cca>Tca	p.P172S	MMP8_uc010rut.1_Missense_Mutation_p.P107S|MMP8_uc010ruu.1_Missense_Mutation_p.P149S	NM_002424	NP_002415	P22894	MMP8_HUMAN	Homo sapiens matrix metallopeptidase 8 (neutrophil collagenase) (MMP8), mRNA.	172					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		CCATCAAATGGAGAATTGTCA	0.433000														42			8		0	0	0.003080	0	0
TAF6L	10629	broad.mit.edu	37	11	62554665	62554665	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:62554665G>A	uc001nvc.3	+	10	1967	c.1766G>A	c.(1765-1767)aGc>aAc	p.S589N	TMEM179B_uc001nvd.4_5'Flank	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN	Homo sapiens TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF6L), mRNA.	589					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|histone deacetylase complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						TACGGGCCTAGCCCGGCCTCG	0.711000											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		8			3		0	0	0.004672	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47103026	47103026	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:47103026G>A	uc002iom.3	+	2	617	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	IGF2BP1_uc010dbj.3_Missense_Mutation_p.E95K	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	95	RRM 2.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCTCCGATGGGAAGTAAGTGT	0.478000														16			5		0	0	0.000602	0	0
PEBP1	5037	broad.mit.edu	37	12	118582456	118582456	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:118582456C>T	uc001twu.1	+	3	557	c.412C>T	c.(412-414)Ctc>Ttc	p.L138F	PEBP1_uc010szc.1_Intron	NM_002567	NP_002558	P30086	PEBP1_HUMAN	Homo sapiens phosphatidylethanolamine binding protein 1 (PEBP1), mRNA.	138							ATP binding|phosphatidylethanolamine binding|serine-type endopeptidase inhibitor activity			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGAGCCCATCCTCAGCAACCG	0.587000														15			9		0	0	0.004482	0	0
SV2A	9900	broad.mit.edu	37	1	149883495	149883495	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:149883495G>A	uc001etg.3	-	2	1151	c.660C>T	c.(658-660)ttC>ttT	p.F220F	SV2A_uc001eth.2_Silent_p.F220F	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	220					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CTCCCCAGAGGAAGGCTCCCA	0.582000														14			5		0	0	0.000602	0	0
HSPA8	3312	broad.mit.edu	37	11	122930831	122930831	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:122930831T>G	uc001pyo.3	-	3	692	c.557A>C	c.(556-558)gAc>gCc	p.D186A	HSPA8_uc009zbc.3_5'UTR|HSPA8_uc001pyp.3_Missense_Mutation_p.D186A|HSPA8_uc010rzu.2_Missense_Mutation_p.D109A|HSPA8_uc009zbd.2_Missense_Mutation_p.D186A|HSPA8_uc010rzv.1_Missense_Mutation_p.D186A	NM_006597	NP_006588	P11142	HSP7C_HUMAN	Homo sapiens heat shock 70kDa protein 8 (HSPA8), transcript variant 1, mRNA.	186	Interaction with BAG1.				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TACCTTTTTGTCTAAGCCGTA	0.373000														36			23		0	0	0.002780	0	0
AAK1	22848	broad.mit.edu	37	2	69759266	69759266	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:69759266C>T	uc002sfp.2	-	5	1068	c.563G>A	c.(562-564)gGc>gAc	p.G188D	AAK1_uc010fdk.2_Missense_Mutation_p.G188D|AAK1_uc010yqm.1_Missense_Mutation_p.G188D	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	Homo sapiens AP2 associated kinase 1 (AAK1), mRNA.	188	Protein kinase.					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GACATAGTGGCCTCGGTCATG	0.423000														49			21		0	0	0.008871	0	0
GPR83	10888	broad.mit.edu	37	11	94126696	94126696	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:94126696G>A	uc001pet.2	-	2	774	c.602C>T	c.(601-603)tCa>tTa	p.S201L		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	201						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATGTGGGAGTGAAAAGAACGT	0.473000														39			5		0	0	0.001168	0	0
MUC16	94025	broad.mit.edu	37	19	9070704	9070704	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9070704G>A	uc002mkp.3	-	2	16946	c.16742C>T	c.(16741-16743)cCc>cTc	p.P5581L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5583	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						TGTGTCCCAGGGAAGGATACC	0.517000														139			54		0	0	0.003610	0	0
LHCGR	3973	broad.mit.edu	37	2	48925938	48925938	+	Splice_Site	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:48925938C>T	uc002rwu.4	-	9	751	c.681_splice	c.e9-1	p.L227_splice	STON1-GTF2A1L_uc021vhf.1_Intron|LHCGR_uc002rwv.2_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	227					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GAAGAAATATCCCTGAACAAT	0.418000														26			17		0	0	0.006122	0	0
PHF3	23469	broad.mit.edu	37	6	64394787	64394787	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:64394787G>A	uc003pep.1	+	2	1189	c.1164G>A	c.(1162-1164)gaG>gaA	p.E388E	PHF3_uc010kaf.1_Silent_p.E388E|PHF3_uc003pem.2_Silent_p.E341E|PHF3_uc010kag.1_Silent_p.E300E|PHF3_uc010kah.1_Silent_p.E202E|PHF3_uc003pen.2_Silent_p.E300E|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.3_Silent_p.E388E	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	388					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATAAAACTGAGAACACCCTTG	0.378000														58			20		0	0	0.008871	0	0
CHRDL2	25884	broad.mit.edu	37	11	74424495	74424495	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:74424495G>A	uc001ovh.3	-	2	478	c.225C>T	c.(223-225)caC>caT	p.H75H	CHRDL2_uc001ovg.3_Intron|CHRDL2_uc001ovi.3_Silent_p.H75H|CHRDL2_uc001ovk.1_Silent_p.H75H	NM_015424	NP_056239	Q6WN34	CRDL2_HUMAN	Homo sapiens chordin-like 2 (CHRDL2), mRNA.	75	VWFC 1.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CAGGCGGACAGTGGAGGCGGT	0.592000														40			18		0	0	0.010504	0	0
ITIH2	3698	broad.mit.edu	37	10	7772068	7772068	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:7772068G>A	uc001ijs.3	+	11	1595	c.1433G>A	c.(1432-1434)gGa>gAa	p.G478E		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	478					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AGGATTTATGGAAACCAGGAC	0.368000														57			24		0	0	0.005443	0	0
UBE2D1	7321	broad.mit.edu	37	10	60123403	60123403	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:60123403T>C	uc001jke.2	+	3	378	c.155T>C	c.(154-156)cTc>cCc	p.L52P	UBE2D1_uc021prc.1_Missense_Mutation_p.L14P	NM_003338	NP_003329	P51668	UB2D1_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2D 1 (UBE2D1), transcript variant 1, mRNA.	52					BMP signaling pathway|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination|transforming growth factor beta receptor signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						GTCTTCTTTCTCACTGTACAT	0.294000														12			13		0	0	0.006122	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814320	106814320	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:106814320G>A	uc003ymd.3	+	7	2033	c.2010G>A	c.(2008-2010)gtG>gtA	p.V670V	ZFPM2_uc011lhs.2_Silent_p.V401V	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	670					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTGTTGATGTGAAAAATCCCA	0.443000														20			10		0	0	0.006214	0	0
EHBP1	23301	broad.mit.edu	37	2	63175992	63175992	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:63175992A>C	uc002sby.3	+	13	2598	c.2116A>C	c.(2116-2118)Aag>Cag	p.K706Q	EHBP1_uc010fcp.3_Missense_Mutation_p.K671Q|EHBP1_uc002sbz.3_Missense_Mutation_p.K671Q|EHBP1_uc002scb.3_Missense_Mutation_p.K671Q	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.	706						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TAGTGATAAGAAGAAGGATAT	0.358000														25			8		0	0	0.003080	0	0
WDR59	79726	broad.mit.edu	37	16	74990485	74990485	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:74990485T>C	uc002fdh.1	-	2	230	c.128A>G	c.(127-129)aAt>aGt	p.N43S	WDR59_uc002fdi.3_Missense_Mutation_p.N43S|WDR59_uc021tli.1_Missense_Mutation_p.N22S	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	43										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GGCATCTAGATTGACGATGTA	0.408000														19			12		0	0	0.001368	0	0
SLC27A6	28965	broad.mit.edu	37	5	128365326	128365326	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:128365326G>A	uc003kuy.3	+	9	2005	c.1609G>A	c.(1609-1611)Gat>Aat	p.D537N	SLC27A6_uc003kuz.3_Missense_Mutation_p.D537N	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	537					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)		TACATCTTTAGATTTGGAAAA	0.299000														34			18		0	0	0.008871	0	0
FAM170A	340069	broad.mit.edu	37	5	118970014	118970014	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:118970014G>A	uc003ksm.2	+	2	781	c.571G>A	c.(571-573)Gag>Aag	p.E191K	FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.3_Missense_Mutation_p.E191K|FAM170A_uc003kso.3_Missense_Mutation_p.E144K	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	191						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CAGTGGGGAGGAGAAAGAGCA	0.562000														86			28		0	0	0.006320	0	0
AGTR1	185	broad.mit.edu	37	3	148459810	148459810	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:148459810C>T	uc003ewg.3	+	3	1434	c.988C>T	c.(988-990)Ctt>Ttt	p.L330F	AGTR1_uc003ewh.3_Missense_Mutation_p.L330F|AGTR1_uc003ewi.3_Missense_Mutation_p.L330F|AGTR1_uc003ewj.3_Missense_Mutation_p.L330F|AGTR1_uc003ewk.3_Missense_Mutation_p.L330F|AGTR1_uc021xfj.1_Missense_Mutation_p.L330F	NM_031850	NP_114438	P30556	AGTR1_HUMAN	Homo sapiens angiotensin II receptor, type 1 (AGTR1), transcript variant 4, mRNA.	330					Rho protein signal transduction|calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of NAD(P)H oxidase activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CCACTCAAACCTTTCAACAAA	0.408000														24			15		0	0	0.003163	0	0
ATP5C1	509	broad.mit.edu	37	10	7841754	7841754	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:7841754C>A	uc001iju.3	+	4	526	c.448C>A	c.(448-450)Ctg>Atg	p.L150M	ATP5C1_uc009xiq.1_Missense_Mutation_p.L150M|ATP5C1_uc010qbc.1_Missense_Mutation_p.L101M|ATP5C1_uc001ijv.3_Missense_Mutation_p.L150M	NM_001001973	NP_001001973	P36542	ATPG_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 (ATP5C1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	150					oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						TGACCAGTTTCTGGTGGCATT	0.423000														43			23		1.87028e-06	2.13483e-06	0.001882	1	0
HOMER1	9456	broad.mit.edu	37	5	78671949	78671949	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:78671949C>T	uc003kfy.3	-	8	2051	c.948G>A	c.(946-948)caG>caA	p.Q316Q	HOMER1_uc010jab.3_3'UTR|HOMER1_uc010jac.3_Silent_p.Q186Q|HOMER1_uc010jad.3_Silent_p.Q142Q	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	Homo sapiens homer homolog 1 (Drosophila) (HOMER1), mRNA.	316					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		CTTGTTCATTCTGACTTTTCT	0.383000														54			29		0	0	0.009535	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101574613	101574613	+	Missense_Mutation	SNP	A	G	G	rs115993928	by1000genomes	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:101574613A>G	uc003dvp.3	+	8	1806	c.1691A>G	c.(1690-1692)aAt>aGt	p.N564S	NFKBIZ_uc003dvo.3_Missense_Mutation_p.N464S|NFKBIZ_uc010hpo.3_Missense_Mutation_p.N464S|NFKBIZ_uc003dvq.3_Missense_Mutation_p.N442S	NM_031419	NP_001005474	Q9BYH8	IKBZ_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta (NFKBIZ), transcript variant 1, mRNA.	564	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						ATAGCCCACAATGCTGTGGTC	0.443000														42			32		0	0	0.002445	0	0
RREB1	6239	broad.mit.edu	37	6	7211090	7211090	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:7211090C>T	uc003mxb.3	+	6	971	c.479C>T	c.(478-480)cCa>cTa	p.P160L	RREB1_uc021yky.1_Missense_Mutation_p.P160L|RREB1_uc010jnw.3_Missense_Mutation_p.P160L|RREB1_uc003mxc.3_Missense_Mutation_p.P160L|RREB1_uc010jnx.3_Missense_Mutation_p.P160L|RREB1_uc003mxd.3_Missense_Mutation_p.P160L|RREB1_uc021ykz.1_Missense_Mutation_p.P160L|RREB1_uc021yla.1_Missense_Mutation_p.P160L	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	160					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ACAGCCCCTCCATCTCCTCTG	0.483000														83			42		0	0	0.008740	0	0
PTCHD2	57540	broad.mit.edu	37	1	11562817	11562817	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:11562817C>T	uc001ash.4	+	2	1317	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S	PTCHD2_uc001asi.1_Silent_p.S393S	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	393					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			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)		TGAAGAGCTCCCTCCTGCGCA	0.572000														27			15		0	0	0.003163	0	0
GDPD5	81544	broad.mit.edu	37	11	75160033	75160033	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:75160033C>T	uc001owo.4	-	9	1240	c.703G>A	c.(703-705)Ggg>Agg	p.G235R	GDPD5_uc001owp.4_Missense_Mutation_p.G235R|GDPD5_uc001own.4_5'UTR|GDPD5_uc009yuc.3_Missense_Mutation_p.G97R|GDPD5_uc009yud.3_Missense_Mutation_p.G116R|GDPD5_uc009yue.1_Missense_Mutation_p.G123R	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA.	235	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	p.R234H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						ATGGGGGCCCCGCGGTGGCCA	0.607000														16			17		0	0	0.006122	0	0
LAMA1	284217	broad.mit.edu	37	18	7042163	7042163	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:7042163G>A	uc002knm.3	-	8	1336	c.1242C>T	c.(1240-1242)ctC>ctT	p.L414L	LAMA1_uc010wzj.2_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	414	Laminin EGF-like 3.				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	p.D413N(1)		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)	AGTCAGAATGGAGGTCATCCT	0.443000														15			9		0	0	0.001368	0	0
PAK3	5063	broad.mit.edu	37	X	110439124	110439124	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:110439124A>C	uc010npv.1	+	12	1300	c.1273A>C	c.(1273-1275)Aag>Cag	p.K425Q	PAK3_uc010npt.1_Missense_Mutation_p.K389Q|PAK3_uc010npu.1_Missense_Mutation_p.K389Q|PAK3_uc004eoy.1_Missense_Mutation_p.K144Q|PAK3_uc004eoz.2_Missense_Mutation_p.K389Q|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_Missense_Mutation_p.K410Q|PAK3_uc004epa.2_Missense_Mutation_p.K404Q	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.	404	Protein kinase.				multicellular organismal development		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity	p.T425S(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TAGAGATATAAAGAGTGACAA	0.343000										TSP Lung(19;0.15)				30			59		0	0	0.003610	0	0
GLYATL1	92292	broad.mit.edu	37	11	58722282	58722282	+	Missense_Mutation	SNP	C	T	T	rs151204927		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:58722282C>T	uc001nnh.2	+	4	369	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C	GLYATL1_uc001nnf.3_Missense_Mutation_p.R76C|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Missense_Mutation_p.R76C|GLYATL1_uc001nnj.2_Missense_Mutation_p.R76C	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	76						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	AAACGTATATCGTATGTTCTC	0.383000														32			7		0	0	0.003080	0	0
KIF16B	55614	broad.mit.edu	37	20	16387034	16387034	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:16387034G>A	uc002wpg.2	-	15	1839	c.1680C>T	c.(1678-1680)ctC>ctT	p.L560L	KIF16B_uc010gch.2_Silent_p.L560L|KIF16B_uc010gci.2_Silent_p.L560L|KIF16B_uc010gcj.2_Silent_p.L560L	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	560					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						TCTTCTCCCTGAGCTTGGCGG	0.473000														175			58		0	0	0.003610	0	0
WWC1	23286	broad.mit.edu	37	5	167850861	167850861	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:167850861C>T	uc003lzu.3	+	10	1691	c.1598C>T	c.(1597-1599)tCc>tTc	p.S533F	WWC1_uc003lzv.3_Missense_Mutation_p.S533F|WWC1_uc011den.2_Missense_Mutation_p.S533F|WWC1_uc003lzw.3_Missense_Mutation_p.S332F	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	533					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TCCATGACCTCCCTATCCCCA	0.632000														28			14		0	0	0.001855	0	0
HELQ	113510	broad.mit.edu	37	4	84348796	84348796	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:84348796G>A	uc003hom.3	-	12	2775	c.2596C>T	c.(2596-2598)Ctt>Ttt	p.L866F	HELQ_uc010ikb.3_Missense_Mutation_p.L799F|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	Homo sapiens helicase, POLQ-like (HELQ), mRNA.	866							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGATGAAGAAGGCTTTCAAGC	0.368000								Other identified genes with known or suspected DNA repair function						34			6		0	0	0.001984	0	0
UGT2B11	10720	broad.mit.edu	37	4	70080284	70080284	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:70080284C>T	uc003heh.3	-	0	166	c.157G>A	c.(157-159)Gtg>Atg	p.V53M	AK124272_uc003hei.1_Non-coding_Transcript	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	53					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						AGTACAGTCACCTCATGACCT	0.413000														80			47		0	0	0.003610	0	0
WLS	79971	broad.mit.edu	37	1	68564346	68564346	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:68564346A>T	uc001dee.3	-	11	1903	c.1601T>A	c.(1600-1602)tTc>tAc	p.F534Y	GNG12-AS1_uc001deb.2_Non-coding_Transcript|GNG12-AS1_uc001dec.2_Non-coding_Transcript	NM_001002292	NP_001002292	Q5T9L3	WLS_HUMAN	Homo sapiens wntless homolog (Drosophila) (WLS), transcript variant 2, mRNA.	0					Wnt receptor signaling pathway|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of canonical Wnt receptor signaling pathway	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						gtcattgatgaaggaatattt	0.388000														54			20		0	0	0.002780	0	0
AACS	65985	broad.mit.edu	37	12	125570980	125570980	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:125570980C>T	uc001uhc.3	+	3	669	c.463C>T	c.(463-465)Cgg>Tgg	p.R155W	AACS_uc009zyg.2_Non-coding_Transcript|AACS_uc001uhd.3_Missense_Mutation_p.R155W|AACS_uc009zyh.3_Non-coding_Transcript	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	155					fatty acid metabolic process	cytosol	ATP binding|acetoacetate-CoA ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GAAAGGAGATCGGGTTGTTGG	0.468000														30			23		0	0	0.002299	0	0
PCDH18	54510	broad.mit.edu	37	4	138442640	138442640	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:138442640G>A	uc003ihe.4	-	3	3338	c.2951C>T	c.(2950-2952)tCc>tTc	p.S984F	PCDH18_uc003ihf.4_Missense_Mutation_p.S976F|PCDH18_uc011cgz.2_Missense_Mutation_p.S195F|PCDH18_uc003ihg.4_Missense_Mutation_p.S763F|PCDH18_uc011cha.2_Missense_Mutation_p.S164F	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	984	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCCAAAGGTGGAAAAACTCTT	0.522000														44			13		0	0	0.001368	0	0
RTN1	6252	broad.mit.edu	37	14	60193935	60193935	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:60193935C>T	uc001xen.1	-	2	1676	c.1467G>A	c.(1465-1467)ccG>ccA	p.P489P	RTN1_uc001xem.1_Silent_p.P69P	NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	489					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TGGGCTTCATCGGGGGTGAGT	0.721000														6			3		0	0	0.004672	0	0
OR51T1	401665	broad.mit.edu	37	11	4903321	4903321	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:4903321C>T	uc010qyp.2	+	0	273	c.273C>T	c.(271-273)ttC>ttT	p.F91F		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTATTATTTCCTCTCCATGC	0.468000														64			21		0	0	0.002780	0	0
ARAP1	116985	broad.mit.edu	37	11	72407631	72407631	+	Missense_Mutation	SNP	G	A	A	rs146883151		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:72407631G>A	uc001osu.3	-	22	3424	c.3235C>T	c.(3235-3237)Cgg>Tgg	p.R1079W	ARAP1_uc001osv.3_Missense_Mutation_p.R1079W|ARAP1_uc001osr.3_Missense_Mutation_p.R839W|ARAP1_uc001oss.3_Missense_Mutation_p.R834W|ARAP1_uc009yth.3_Missense_Mutation_p.R773W|ARAP1_uc010rre.2_Missense_Mutation_p.R834W	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	1079	Rho-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding	p.R839W(1)|p.R1079W(1)		cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						ACTGTGGCCCGGTTGACAGGG	0.567000														225			144		0	0	0.003610	0	0
DKK2	27123	broad.mit.edu	37	4	107845144	107845144	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:107845144G>A	uc003hyi.3	-	3	1452	c.747C>T	c.(745-747)tcC>tcT	p.S249S	DKK2_uc003hyj.1_3'UTR	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	249	DKK-type Cys-2.				Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GTCTGGCTTTGGAGGAGTAGG	0.448000														62			33		0	0	0.004289	0	0
ZNF862	643641	broad.mit.edu	37	7	149559258	149559258	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:149559258C>T	uc010lpn.3	+	6	3201	c.3009C>T	c.(3007-3009)ctC>ctT	p.L1003L		NM_001099220	NP_001092690	O60290	ZN862_HUMAN	Homo sapiens zinc finger protein 862 (ZNF862), mRNA.	1003					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CCCAGCACCTCCCGTTCTCCA	0.597000														29			58		0	0	0.003610	0	0
LIFR	3977	broad.mit.edu	37	5	38506159	38506159	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:38506159A>G	uc010ive.1	-	8	1471	c.1139T>C	c.(1138-1140)gTt>gCt	p.V380A	LIFR_uc003jli.2_Missense_Mutation_p.V380A	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	380	Fibronectin type-III 2.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTTAAGTCTAACATATTTTCC	0.274000			T	PLAG1	salivary adenoma									35			12		0	0	0.000978	0	0
DYSF	8291	broad.mit.edu	37	2	71781022	71781022	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:71781022C>T	uc010fen.3	+	20	2211	c.2070C>T	c.(2068-2070)atC>atT	p.I690I	DYSF_uc010fei.3_Silent_p.I689I|DYSF_uc010feh.3_Silent_p.I658I|DYSF_uc002sig.4_Silent_p.I658I|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.I703I|DYSF_uc010fee.3_Silent_p.I672I|DYSF_uc010fef.3_Silent_p.I689I|DYSF_uc002sie.3_Silent_p.I672I|DYSF_uc010feo.3_Silent_p.I704I|DYSF_uc010fej.3_Silent_p.I659I|DYSF_uc010fel.3_Silent_p.I659I|DYSF_uc010fem.3_Silent_p.I673I|DYSF_uc002sif.3_Silent_p.I673I|DYSF_uc010fek.3_Silent_p.I690I	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	672						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCCATAGAATCGAGACTCAGA	0.552000														33			14		0	0	0.004990	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520530	33520530	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:33520530G>T	uc002hjd.2	-	0	883	c.797C>A	c.(796-798)tCc>tAc	p.S266Y		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	266						integral to membrane											ACATGTGAAGGAGACCAAGGC	0.602000														84			38		9.8876e-21	1.13855e-20	0.004878	1	0
ABRA	137735	broad.mit.edu	37	8	107773536	107773536	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:107773536C>T	uc003ymm.4	-	1	929	c.875G>A	c.(874-876)gGa>gAa	p.G292E		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	292					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			AGTTTTGGTTCCTTCTTTGGG	0.517000														43			20		0	0	0.010504	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38597184	38597184	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:38597184C>T	uc002ohk.3	+	6	2546	c.2037C>T	c.(2035-2037)tcC>tcT	p.S679S		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	679	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGCCGACTCCACGGGAACCC	0.512000														65			25		0	0	0.007291	0	0
OTOP3	347741	broad.mit.edu	37	17	72937888	72937888	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:72937888G>A	uc010wrr.2	+	1	474	c.474G>A	c.(472-474)ggG>ggA	p.G158G	OTOP3_uc010wrq.2_Silent_p.G140G	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	158						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CCCACGCGGGGCCCCTCTGGG	0.682000														12			4		0	0	0.009096	0	0
BDP1	55814	broad.mit.edu	37	5	70805966	70805966	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:70805966G>A	uc003kbp.1	+	16	3310	c.3047G>A	c.(3046-3048)gGa>gAa	p.G1016E	BDP1_uc003kbn.1_Missense_Mutation_p.G1016E|BDP1_uc003kbo.3_Missense_Mutation_p.G1016E	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	1016	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AACGCAACTGGAAGAGAGAGT	0.428000														60			26		0	0	0.007291	0	0
ZNF157	7712	broad.mit.edu	37	X	47272784	47272784	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:47272784G>A	uc004dhr.1	+	3	1381	c.1312G>A	c.(1312-1314)Gga>Aga	p.G438R		NM_003446	NP_003437	P51786	ZN157_HUMAN	Homo sapiens zinc finger protein 157 (ZNF157), mRNA.	438					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AACTCACACAGGAGAGAAACC	0.428000														2			13		0	0	0.001855	0	0
DMBT1	1755	broad.mit.edu	37	10	124377568	124377568	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:124377568G>A	uc001lgk.1	+	37	4646	c.4540G>A	c.(4540-4542)Gga>Aga	p.G1514R	DMBT1_uc001lgl.1_Missense_Mutation_p.G1504R|DMBT1_uc001lgm.1_Missense_Mutation_p.G886R|DMBT1_uc021qaf.1_Missense_Mutation_p.G1514R|DMBT1_uc021qag.1_Missense_Mutation_p.G1504R|DMBT1_uc021qah.1_Missense_Mutation_p.G886R|DMBT1_uc009xzz.1_Missense_Mutation_p.G1514R|DMBT1_uc010qtx.1_Missense_Mutation_p.G365R|DMBT1_uc009yab.1_Missense_Mutation_p.G217R	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1514	SRCR 12.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ACTGGTGAATGGAGGTGACAG	0.547000														138			111		0	0	0.003610	0	0
ZNF619	285267	broad.mit.edu	37	3	40523356	40523356	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:40523356C>T	uc011azb.2	+	2	334	c.27C>T	c.(25-27)ggC>ggT	p.G9G	ZNF619_uc011aza.2_5'UTR|ZNF619_uc011azc.2_Silent_p.G9G|ZNF619_uc011azd.2_Intron|ZNF619_uc003ckj.3_5'UTR|ZNF619_uc021wwh.1_5'UTR	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN	Homo sapiens zinc finger protein 619 (ZNF619), transcript variant 1, mRNA.	9					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TTGTGCAGGGCTTGGGCAGGA	0.532000														58			33		0	0	0.009535	0	0
NSUN2	54888	broad.mit.edu	37	5	6600042	6600042	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:6600042C>T	uc003jdu.3	-	18	2682	c.2301G>A	c.(2299-2301)cgG>cgA	p.R767R	NSUN2_uc003jdt.3_Silent_p.R531R|NSUN2_uc011cmk.2_Silent_p.R732R|NSUN2_uc003jdv.3_Silent_p.R531R	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA.	767						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						GGCCTGCTCACCGGGGTGGAT	0.632000														102			49		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9058908	9058908	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9058908T>G	uc002mkp.3	-	2	28742	c.28538A>C	c.(28537-28539)cAc>cCc	p.H9513P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9515	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						TTCAAAAACGTGAATTGCCTC	0.483000														87			44		0	0	0.003610	0	0
MYOCD	93649	broad.mit.edu	37	17	12666456	12666456	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:12666456C>T	uc002gno.2	+	13	2755	c.2456C>T	c.(2455-2457)tCc>tTc	p.S819F	MYOCD_uc002gnn.2_Missense_Mutation_p.S771F|MYOCD_uc002gnq.2_Missense_Mutation_p.S495F	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	771					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)		CCCAGATCTTCCCGAAGTCCA	0.498000														89			16		0	0	0.004990	0	0
NLRP8	126205	broad.mit.edu	37	19	56465912	56465912	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:56465912C>T	uc002qmh.3	+	2	559	c.488C>T	c.(487-489)cCc>cTc	p.P163L	NLRP8_uc010etg.3_Missense_Mutation_p.P163L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	163						cytoplasm	ATP binding	p.P163H(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AAGTTTTTCCCCATATGGGAC	0.438000														62			22		0	0	0.010504	0	0
PEAR1	375033	broad.mit.edu	37	1	156882687	156882687	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:156882687C>T	uc001fqj.1	+	17	2451	c.2335C>T	c.(2335-2337)Cgg>Tgg	p.R779W	PEAR1_uc001fqk.1_Missense_Mutation_p.R404W	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	779						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CATTGGCTATCGGCACTGGCA	0.602000														72			15		0	0	0.007413	0	0
CPEB4	80315	broad.mit.edu	37	5	173337594	173337594	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:173337594T>G	uc003mcs.4	+	1	2600	c.1194T>G	c.(1192-1194)aaT>aaG	p.N398K	CPEB4_uc010jju.2_Missense_Mutation_p.N398K|CPEB4_uc010jjv.3_Missense_Mutation_p.N398K|CPEB4_uc011dfg.2_Missense_Mutation_p.N398K|CPEB4_uc003mcu.4_Missense_Mutation_p.N16K	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA.	398							RNA binding|nucleotide binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GAGCTGAAAATGATACCATTA	0.353000														65			28		0	0	0.005443	0	0
TBL1Y	90665	broad.mit.edu	37	Y	6955439	6955439	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrY:6955439C>T	uc004frb.3	+	16	2059	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F	TBL1Y_uc004frc.3_Missense_Mutation_p.S471F|TBL1Y_uc004frd.3_Missense_Mutation_p.S471F|TBL1Y_uc011nap.2_Missense_Mutation_p.S313F	NM_033284	NP_599021	Q9BQ87	TBL1Y_HUMAN	Homo sapiens transducin (beta)-like 1, Y-linked (TBL1Y), transcript variant 1, mRNA.	471					transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						GCTAGTGGATCCTTTGACAAG	0.473000														12			14		0	0	0.004007	0	0
RSPH6A	81492	broad.mit.edu	37	19	46308182	46308182	+	Silent	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:46308182G>A	uc002pdm.3	-	2	1152	c.981C>T	c.(979-981)ttC>ttT	p.F327F	RSPH6A_uc002pdl.3_Silent_p.F63F	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	327						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						TCATGGCCAGGAAAATGCGGA	0.617000														33			20		0	0	0.008871	0	0
PSG7	5676	broad.mit.edu	37	19	43430737	43430737	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:43430737G>A	uc002ovl.4	-	4	940	c.838C>T	c.(838-840)Ccg>Tcg	p.P280S	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.P159S	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	281	Ig-like C2-type 2.				female pregnancy	extracellular region							Prostate(69;0.00682)				GGACTGACCGGGAGGCTCTGA	0.468000														272			118		0	0	0.003610	0	0
RASGRF2	5924	broad.mit.edu	37	5	80497237	80497238	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:80497237_80497238GG>AA	uc003kha.2	+	18	2932_2933	c.2882_2883GG>AA	c.(2881-2883)agg>aAA	p.R961K	RASGRF2_uc011ctn.2_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	961					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CCCCAAGAAAGGAAAGCCGCCG	0.411000														64			20		0	0	0.004672	0	0
PRB1	5542	broad.mit.edu	37	12	11506697	11506697	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:11506697G>A	uc001qzw.1	-	2	377	c.340C>T	c.(340-342)Cct>Tct	p.P114S	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	114	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region		p.G114R(1)		NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTTCCTGGAGGAGGTGGGGGA	0.612000														203			66		0	0	0.003610	0	0
NRSN1	140767	broad.mit.edu	37	6	24146056	24146056	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:24146056G>A	uc010jpq.1	+	3	707	c.470G>A	c.(469-471)cGa>cAa	p.R157Q		NM_080723	NP_542454	Q8IZ57	NRSN1_HUMAN	Homo sapiens neurensin 1 (NRSN1), mRNA.	157					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						TTTAAAGAACGAATCGCAGAC	0.493000														56			14		0	0	0.002450	0	0
GPR110	266977	broad.mit.edu	37	6	46988502	46988502	+	Silent	SNP	A	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:46988502A>G	uc003oyt.3	-	6	775	c.576T>C	c.(574-576)atT>atC	p.I192I	GPR110_uc011dwl.2_5'UTR|GPR110_uc003oyu.1_Silent_p.I192I	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	192	SEA.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R191I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CAAAACCTTGAATTCTTTCAT	0.388000														25			15		0	0	0.002450	0	0
YEATS2	55689	broad.mit.edu	37	3	183480001	183480001	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:183480001C>T	uc003fly.2	+	14	2076	c.1881C>T	c.(1879-1881)tcC>tcT	p.S627S		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	627					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TAGCTGTGTCCCCTCAAAAAC	0.537000														48			28		0	0	0.004656	0	0
SPTA1	6708	broad.mit.edu	37	1	158644350	158644350	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:158644350C>T	uc001fst.1	-	8	1427	c.1228G>A	c.(1228-1230)Gac>Aac	p.D410N		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	410					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGATGCCTGTCCAGCAGAACT	0.512000														106			35		0	0	0.003271	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307587	39307587	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:39307587C>T	uc021wwc.1	-	1	550	c.510G>A	c.(508-510)atG>atA	p.M170I	CX3CR1_uc021wwa.1_Missense_Mutation_p.M138I|CX3CR1_uc021wwb.1_Missense_Mutation_p.M138I|CX3CR1_uc003cjl.3_Missense_Mutation_p.M138I|CX3CR1_uc021wwd.1_Missense_Mutation_p.M138I	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	138					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TCCGGTTGTTCATGGAGTTGG	0.537000														67			29		0	0	0.002445	0	0
DPP10	57628	broad.mit.edu	37	2	116101408	116101408	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:116101408C>T	uc002tle.3	+	2	224	c.203C>T	c.(202-204)tCg>tTg	p.S68L	DPP10_uc002tla.2_Missense_Mutation_p.S64L|DPP10_uc021vnb.1_Non-coding_Transcript|DPP10_uc002tlb.2_Missense_Mutation_p.S14L|DPP10_uc002tlc.2_Missense_Mutation_p.S60L|DPP10_uc002tlf.2_Missense_Mutation_p.S57L	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	64					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CTCACAAATTCGTCAGAAACC	0.348000														54			17		0	0	0.008871	0	0
EFCAB6	64800	broad.mit.edu	37	22	43996122	43996122	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:43996122C>T	uc003bdy.2	-	22	3017	c.2703G>A	c.(2701-2703)ggG>ggA	p.G901G	EFCAB6_uc003bdz.2_Silent_p.G749G|EFCAB6_uc010gzi.2_Silent_p.G749G|EFCAB6_uc010gzj.1_Silent_p.G127G	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	901	EF-hand 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AAGTAATGTGCCCTTTTCCCT	0.423000														128			62		0	0	0.003610	0	0
TRIM3	10612	broad.mit.edu	37	11	6477646	6477646	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:6477646G>A	uc001mdh.3	-	6	1706	c.1310C>T	c.(1309-1311)tCc>tTc	p.S437F	TRIM3_uc001mdi.3_Missense_Mutation_p.S437F|TRIM3_uc010raj.2_Missense_Mutation_p.S318F|TRIM3_uc009yfd.3_Missense_Mutation_p.S437F|TRIM3_uc010rak.1_Missense_Mutation_p.S437F|TRIM3_uc001mdj.2_Missense_Mutation_p.S318F	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	437					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	p.S437Y(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCGCCAGGGGACTTGACACG	0.667000														27			17		0	0	0.004007	0	0
TOP3B	8940	broad.mit.edu	37	22	22316831	22316831	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:22316831G>A	uc002zvs.3	-	12	1930	c.1495C>T	c.(1495-1497)Ctc>Ttc	p.L499F	TOP3B_uc010gtm.2_Missense_Mutation_p.L44F|TOP3B_uc002zvt.4_Missense_Mutation_p.L499F|TOP3B_uc010gtl.3_Missense_Mutation_p.L499F	NM_003935	NP_003926	O95985	TOP3B_HUMAN	Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA.	499					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	p.E498K(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		AGCGTGATGAGCTCGGCCTCC	0.632000														80			41		0	0	0.002852	0	0
CASP5	838	broad.mit.edu	37	11	104874035	104874035	+	Missense_Mutation	SNP	T	A	A	rs143600313		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:104874035T>A	uc010ruz.1	-	3	580	c.548A>T	c.(547-549)gAa>gTa	p.E183V	CASP5_uc010rva.1_Missense_Mutation_p.E170V|CASP5_uc010rvb.1_Missense_Mutation_p.E112V|CASP5_uc010rvc.1_Missense_Mutation_p.E28V|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron	NM_001136112	NP_001129584	P51878	CASP5_HUMAN	Homo sapiens caspase 5, apoptosis-related cysteine peptidase (CASP5), transcript variant f, mRNA.	170					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TCTCAGGAATTCTTCACGAGG	0.388000														63			23		0	0	0.005443	0	0
PCDH15	65217	broad.mit.edu	37	10	55698675	55698675	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:55698675C>T	uc010qhy.1	-	25	3683	c.3288G>A	c.(3286-3288)gtG>gtA	p.V1096V	PCDH15_uc010qhq.2_Silent_p.V1096V|PCDH15_uc010qhr.2_Silent_p.V1091V|PCDH15_uc021pqv.1_Silent_p.V1091V|PCDH15_uc021pqw.1_Silent_p.V1103V|PCDH15_uc010qht.2_Silent_p.V1098V|PCDH15_uc021pqx.1_Silent_p.V1091V|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.V1091V|PCDH15_uc021pqz.1_Silent_p.V1069V|PCDH15_uc010qhv.1_Silent_p.V1091V|PCDH15_uc010qhw.1_Silent_p.V1054V|PCDH15_uc010qhx.1_Silent_p.V1020V|PCDH15_uc010qhz.1_Silent_p.V1091V|PCDH15_uc010qia.1_Silent_p.V1069V|PCDH15_uc001jju.1_Silent_p.V1091V|PCDH15_uc010qib.1_Silent_p.V1069V	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1091	Cadherin 10.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.V1096V(1)|p.V1091V(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GAGGTCCATTCACATAGATAA	0.383000										HNSCC(58;0.16)				20			18		0	0	0.010504	0	0
REG3G	130120	broad.mit.edu	37	2	79255393	79255393	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:79255393C>T	uc002snw.3	+	5	604	c.519C>T	c.(517-519)ttC>ttT	p.F173F	REG3G_uc002snx.3_Silent_p.F173F|REG3G_uc010ffu.3_Silent_p.F127F	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	Homo sapiens regenerating islet-derived 3 gamma (REG3G), transcript variant 2, mRNA.	173					acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCTGCAAGTTCAAGGACTAGG	0.478000														54			20		0	0	0.001882	0	0
LIPE	3991	broad.mit.edu	37	19	42931082	42931082	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:42931082C>T	uc002otr.3	-	0	497	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|LIPE_uc002ots.1_5'Flank	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	74					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GCTCTAGGTTCCTTCTGGGAT	0.522000														156			76		0	0	0.003610	0	0
PPP1R32	220004	broad.mit.edu	37	11	61254688	61254688	+	Missense_Mutation	SNP	G	A	A	rs146588175		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:61254688G>A	uc001nru.2	+	10	1151	c.1019G>A	c.(1018-1020)cGa>cAa	p.R340Q	PPP1R32_uc009ynq.2_Missense_Mutation_p.R320Q	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 32 (PPP1R32), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	340																	AGGGATCAGCGATACCTGACC	0.532000														103			31		0	0	0.009535	0	0
SLC22A7	10864	broad.mit.edu	37	6	43267701	43267701	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:43267701G>A	uc021yzt.1	+	4	823	c.724G>A	c.(724-726)Ggg>Agg	p.G242R	SLC22A7_uc010jyl.1_Missense_Mutation_p.G243R|SLC22A7_uc003ous.3_Missense_Mutation_p.G240R|SLC22A7_uc003out.3_Missense_Mutation_p.G240R	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	242						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CTTCTGGACAGGGGGCGTGAT	0.622000														94			29		0	0	0.002836	0	0
ASL	435	broad.mit.edu	37	7	65556996	65556996	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:65556996C>T	uc003tup.3	+	13	1301	c.1066C>T	c.(1066-1068)Cac>Tac	p.H356Y	ASL_uc003tuo.3_Missense_Mutation_p.H356Y|ASL_uc003tur.3_Missense_Mutation_p.H330Y|ASL_uc003tuq.3_Missense_Mutation_p.H336Y	NM_001024943	NP_001020114	P04424	ARLY_HUMAN	Homo sapiens argininosuccinate lyase (ASL), transcript variant 1, mRNA.	356					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CCCCCAGATTCACCAAGAGAA	0.632000														115			57		0	0	0.003610	0	0
PTPN6	5777	broad.mit.edu	37	12	7065701	7065701	+	Silent	SNP	C	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:7065701C>T	uc001qsb.2	+	8	1286	c.1044C>T	c.(1042-1044)gtC>gtT	p.V348V	PTPN6_uc001qsa.1_Silent_p.V350V|PTPN6_uc010sfr.1_Silent_p.V309V|PTPN6_uc009zfl.1_Silent_p.V348V|PTPN6_uc010sfs.1_Silent_p.V336V	NM_002831	NP_002822	P29350	PTN6_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 6 (PTPN6), transcript variant 1, mRNA.	348	Tyrosine-protein phosphatase.				G-protein coupled receptor protein signaling pathway|T cell costimulation|apoptosis|cell junction assembly|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GTGTCATCGTCATGACCACCC	0.607000														61			18		0	0	0.001882	0	0
AGRN	375790	broad.mit.edu	37	1	980604	980626	+	Frame_Shift_Del	DEL	GCTGCCAGGACAATATCACCGCA	-	-	rs141886688		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:980604_980626delGCTGCCAGGACAATATCACCGCA	uc001ack.2	+	12	2368_2390	c.2318_2340delGCTGCCAGGACAATATCACCGCA	c.(2317-2340)tgctgccaggacaatatcaccgcafs	p.C773fs		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	773					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCCTACGGCTGCTGCCAGGACAATATCACCGCAGCCCGGGGCG	0.686													---	32	---	---	7	---					
RAP1GAP	5909	broad.mit.edu	37	1	21936093	21936094	+	Frame_Shift_Ins	INS	-	G	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:21936093_21936094insG	uc001bev.3	-	11	1063_1064	c.1045_1046insC	c.(1045-1047)ctcfs	p.L349fs	RAP1GAP_uc001bew.3_Frame_Shift_Ins_p.L413fs|RAP1GAP_uc001bey.3_Frame_Shift_Ins_p.L349fs|RAP1GAP_uc001bex.3_Frame_Shift_Ins_p.L349fs	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.	349	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GGGGTCCGGGAGGGGGGGTCCA	0.634													---	151	---	---	43	---					
CRNN	49860	broad.mit.edu	37	1	152383381	152383381	+	Frame_Shift_Del	DEL	A	-	-			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:152383381delA	uc001ezx.2	-	2	251	c.177delT	c.(175-177)cgtfs	p.R59fs		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	59	EF-hand.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATCCAGCAGACGCAGGACCT	0.537													---	68	---	---	11	---					
NFE2L2	4780	broad.mit.edu	37	2	178095665	178095666	+	Frame_Shift_Ins	INS	-	T	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:178095665_178095666insT	uc002ulh.4	-	4	2220_2221	c.1665_1666insA	c.(1663-1668)aaacaafs	p.K555fs	NFE2L2_uc002ulg.4_Frame_Shift_Ins_p.K539fs|NFE2L2_uc010zfa.2_Frame_Shift_Ins_p.K532fs|NFE2L2_uc002uli.4_Frame_Shift_Ins_p.K539fs	NM_006164	NP_001138884	Q16236	NF2L2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 2 (NFE2L2), transcript variant 1, mRNA.	555					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			GTGCTGAGTTGTTTTTTCAGTA	0.361			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			---	125	---	---	50	---					
ERC2	26059	broad.mit.edu	37	3	56330206	56330206	+	Frame_Shift_Del	DEL	A	-	-			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:56330206delA	uc021wzo.1	-	1	1055	c.915delT	c.(913-915)attfs	p.I305fs	ERC2_uc003dhr.1_Frame_Shift_Del_p.I305fs	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	305						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GAAGTTTTTTAATTGACTCAT	0.478													---	280	---	---	137	---					
PIGX	54965	broad.mit.edu	37	3	196449386	196449386	+	Frame_Shift_Del	DEL	C	-	-			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:196449386delC	uc010iaj.3	+	2	436	c.277delC	c.(277-279)ccgfs	p.P93fs	PIGX_uc003fwx.4_Frame_Shift_Del_p.P93fs|PIGX_uc011btx.2_Non-coding_Transcript	NM_001166304	NP_001159776	Q8TBF5	PIGX_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class X (PIGX), transcript variant 1, mRNA.	93					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		TTATGTGGATCCGTATGAGTT	0.408													---	126	---	---	64	---					
AKD1	221264	broad.mit.edu	37	6	109980446	109980454	+	In_Frame_Del	DEL	CTCTTCTTC	-	-			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:109980446_109980454delCTCTTCTTC	uc003ptn.2	-	6	684_692	c.607_615delGAAGAAGAG	c.(607-615)gaagaagagdel	p.EEE203del	AKD1_uc003ptr.4_In_Frame_Del_p.EEE203del|AKD1_uc003pts.2_Non-coding_Transcript	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	203	Glu-rich.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						cttcttcttgctcttcttcctcttcttcc	0.359													---	27	---	---	18	---					
KIAA1432	57589	broad.mit.edu	37	9	5772956	5772956	+	Frame_Shift_Del	DEL	C	-	-			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:5772956delC	uc003zjl.4	+	23	3939	c.3748delC	c.(3748-3750)cttfs	p.L1250fs	KIAA1432_uc003zji.3_Frame_Shift_Del_p.L1208fs	NM_001206557	NP_001193486	Q4ADV7	RIC1_HUMAN	Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA.	1287						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		AGGCCTGATTCTTAGAGAATC	0.388													---	31	---	---	21	---					
PIP5K1B	8395	broad.mit.edu	37	9	71437594	71437594	+	Frame_Shift_Del	DEL	A	-	-			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:71437594delA	uc004agu.3	+	3	369	c.64delA	c.(64-66)aaafs	p.K22fs	PIP5K1B_uc011lrq.2_Frame_Shift_Del_p.K22fs|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	22						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AAAAACCTATAAAAAGGTGAG	0.393													---	29	---	---	32	---					
SLK	9748	broad.mit.edu	37	10	105752748	105752748	+	Frame_Shift_Del	DEL	A	-	-			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:105752748delA	uc001kxo.1	+	3	405	c.371delA	c.(370-372)gagfs	p.E124fs	SLK_uc001kxp.1_Frame_Shift_Del_p.E124fs	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	Homo sapiens STE20-like kinase (SLK), mRNA.	124	Protein kinase.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ATAGAACTTGAGAGACCATTA	0.323													---	28	---	---	19	---					
HNRNPM	4670	broad.mit.edu	37	19	8550606	8550606	+	Frame_Shift_Del	DEL	T	-	-			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:8550606delT	uc010dwe.3	+	13	1374	c.1294delT	c.(1294-1296)tccfs	p.S432fs	HNRNPM_uc010xke.1_Frame_Shift_Del_p.S378fs|HNRNPM_uc010dwd.3_Frame_Shift_Del_p.S393fs|HNRNPM_uc002mka.3_Frame_Shift_Del_p.S297fs|HNRNPM_uc002mkb.1_5'Flank	NM_005968	NP_005959	P52272	HNRPM_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein M (HNRNPM), transcript variant 1, mRNA.	432	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	RNA binding|nucleotide binding|protein domain specific binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TCGCGTGGGCTCCGAGATCGA	0.706													---	129	---	---	45	---					
GRIK5	2901	broad.mit.edu	37	19	42507603	42507615	+	Splice_Site	DEL	AACCTGGAGGGCG	-	-			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:42507603_42507615delAACCTGGAGGGCG	uc002osj.1	-	18	2428	c.2393_splice	c.e18-1	p.G798_splice	GRIK5_uc002osi.1_Splice_Site_p.G370_splice	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA.	798						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	TCCATGCCCAAACCTGGAGGGCGAAGGGAGTTG	0.573													---	73	---	---	8	---					
ZNF335	63925	broad.mit.edu	37	20	44578901	44578912	+	In_Frame_Del	DEL	GGTCTGGGTTGG	-	-	rs147383840		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:44578901_44578912delGGTCTGGGTTGG	uc002xqw.3	-	21	3556_3567	c.3433_3444delCCAACCCAGACC	c.(3433-3444)ccaacccagaccdel	p.PTQT1145del	ZNF335_uc002xqv.3_In_Frame_Del_p.PTQT257del|ZNF335_uc010zxk.2_In_Frame_Del_p.PTQT990del	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	1145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TCAGGATGATGGTCTGGGTTGGGGTCTGGGTA	0.608													---	144	---	---	21	---					
TAF7L	54457	broad.mit.edu	37	X	100547850	100547850	+	Frame_Shift_Del	DEL	C	-	-			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:100547850delC	uc004ehb.3	-	0	210	c.184delG	c.(184-186)gacfs	p.D62fs	TAF7L_uc004ehc.2_5'Flank	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	62					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GTTTGAGTGTCCTCGTCGGCA	0.567													---	33	---	---	53	---