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
ARID4B	51742	broad.mit.edu	37	1	235345495	235345495	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr1:235345495A>T	uc021pks.1	-	19	3116	c.2739T>A	c.(2737-2739)gaT>gaA	p.D913E	ARID4B_uc001hwq.3_Missense_Mutation_p.D913E|ARID4B_uc001hwr.3_Missense_Mutation_p.D827E|ARID4B_uc001hws.4_Missense_Mutation_p.D827E|RBM34_uc001hwp.3_Non-coding_Transcript|ARID4B_uc001hwt.4_Missense_Mutation_p.D594E	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	913					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			GAAGTCTTTCATCAGAGTTAT	0.373												
RIC8A	60626	broad.mit.edu	37	11	209578	209578	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:209578G>A	uc001lof.3	+	2	629	c.304G>A	c.(304-306)Gag>Aag	p.E102K	BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001log.3_Missense_Mutation_p.E102K|RIC8A_uc001loh.3_Missense_Mutation_p.E95K	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 8 homolog A (C. elegans) (RIC8A), mRNA.	102						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTCTGTCTCTGAGGGGTCCGT	0.617												
GALNTL4	374378	broad.mit.edu	37	11	11398782	11398782	+	Silent	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:11398782G>A	uc001mjo.2	-	4	1345	c.924C>T	c.(922-924)taC>taT	p.Y308Y		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.	308						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		GGGGATTTAGGTAGCGGCACC	0.532												
C11orf41	25758	broad.mit.edu	37	11	33564672	33564672	+	Silent	SNP	A	A	G			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:33564672A>G	uc021qfs.1	+	0	796	c.672A>G	c.(670-672)ccA>ccG	p.P224P	C11orf41_uc001mun.1_Silent_p.P224P	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	224						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						CTCCTGTGCCAGAAATGCCCA	0.537											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
OR4A47	403253	broad.mit.edu	37	11	48510526	48510526	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:48510526T>C	uc010rhx.2	+	0	182	c.182T>C	c.(181-183)cTt>cCt	p.L61P		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	61					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						TACTTCTTTCTTGCTGGCTTA	0.408												
OR5I1	10798	broad.mit.edu	37	11	55703856	55703856	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:55703856G>C	uc010ris.2	-	0	21	c.21C>G	c.(19-21)aaC>aaG	p.N7K		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R6R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CCAACGTGTAGTTTCTATCTG	0.333												
SLC22A8	9376	broad.mit.edu	37	11	62767306	62767306	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:62767306C>T	uc009yon.3	-	3	567	c.446G>A	c.(445-447)cGc>cAc	p.R149H	SLC22A8_uc001nwn.1_5'Flank|SLC22A8_uc009yom.3_Missense_Mutation_p.R26H|SLC22A8_uc001nwo.3_Missense_Mutation_p.R149H|SLC22A8_uc010rmm.2_Missense_Mutation_p.R58H|SLC22A8_uc001nwp.2_Missense_Mutation_p.R149H	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	149			R -> S (complete loss of function; dbSNP:rs45566039).		response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GATGGGCCTGCGGCCAAACCT	0.627												
HTR3A	3359	broad.mit.edu	37	11	113860380	113860380	+	Silent	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:113860380C>T	uc010rxb.2	+	7	1679	c.1446C>T	c.(1444-1446)cgC>cgT	p.R482R	HTR3A_uc010rxa.2_Silent_p.R450R|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Silent_p.R429R	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	444					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	ACTGGCTGCGCGTGGGCTCCG	0.612												
C2CD2L	9854	broad.mit.edu	37	11	118984640	118984640	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:118984640G>A	uc001pvn.3	+	11	1927	c.1568G>A	c.(1567-1569)cGg>cAg	p.R523Q	C2CD2L_uc001pvo.3_Missense_Mutation_p.R522Q	NM_014807	NP_055622	O14523	C2C2L_HUMAN	Homo sapiens C2CD2-like (C2CD2L), mRNA.	522						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCCAGTGGGCGGGTGGCCAAG	0.587												
OR6M1	390261	broad.mit.edu	37	11	123676407	123676407	+	Silent	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:123676407G>A	uc010rzz.2	-	0	651	c.651C>T	c.(649-651)taC>taT	p.Y217Y		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TAGAAATTATGTACACGTAGG	0.493												
OR10G9	219870	broad.mit.edu	37	11	123894514	123894514	+	Silent	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:123894514C>T	uc010sad.2	+	0	795	c.795C>T	c.(793-795)gaC>gaT	p.D265D		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 9 (OR10G9), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GCTCCAGGGACGTCGTGGATG	0.517												
OR10G7	390265	broad.mit.edu	37	11	123908977	123908977	+	Silent	SNP	A	A	G			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:123908977A>G	uc001pzq.1	-	0	732	c.732T>C	c.(730-732)tgT>tgC	p.C244C		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	244					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)		GGACCACGATACAGTGGGAGG	0.567												
TSPAN9	10867	broad.mit.edu	37	12	3388164	3388164	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr12:3388164A>G	uc001qlp.3	+	4	445	c.262A>G	c.(262-264)Atc>Gtc	p.I88V	TSPAN9_uc021qtd.1_Missense_Mutation_p.I88V	NM_006675	NP_006666	O75954	TSN9_HUMAN	Homo sapiens tetraspanin 9 (TSPAN9), transcript variant 1, mRNA.	88						integral to plasma membrane|membrane fraction				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			CCAGTTTTTCATCGTCCTGTT	0.552												
PSMB11	122706	broad.mit.edu	37	14	23511816	23511816	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr14:23511816G>A	uc010ake.1	+	0	441	c.382G>A	c.(382-384)Gct>Act	p.A128T		NM_001099780	NP_001093250	A5LHX3	PSB11_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 11 (PSMB11), mRNA.	128					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		TGTGGCCAGTGCTGCCAAGCT	0.622												
ARHGAP5	394	broad.mit.edu	37	14	32561267	32561267	+	Silent	SNP	A	A	G			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr14:32561267A>G	uc001wrl.3	+	1	1631	c.1392A>G	c.(1390-1392)aaA>aaG	p.K464K	ARHGAP5_uc001wrm.3_Silent_p.K464K|ARHGAP5_uc001wrn.3_Silent_p.K464K|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	464	FF 3.				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.Y463F(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AAGCCTACAAATATATCACTG	0.373												
ARHGAP5	394	broad.mit.edu	37	14	32561946	32561946	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr14:32561946A>T	uc001wrl.3	+	1	2310	c.2071A>T	c.(2071-2073)Atg>Ttg	p.M691L	ARHGAP5_uc001wrm.3_Missense_Mutation_p.M691L|ARHGAP5_uc001wrn.3_Missense_Mutation_p.M691L|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	691					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGATAAATACATGGCTAATCT	0.358												
LRFN5	145581	broad.mit.edu	37	14	42360832	42360832	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr14:42360832G>A	uc001wvm.3	+	3	2963	c.1765G>A	c.(1765-1767)Gtg>Atg	p.V589M	LRFN5_uc010ana.3_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	589						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GCCCCAGTCCGTGTCCAAACA	0.463										HNSCC(30;0.082)		
CDC42BPB	9578	broad.mit.edu	37	14	103440447	103440447	+	Missense_Mutation	SNP	G	G	A	rs149124468		TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr14:103440447G>A	uc001ymi.1	-	11	1779	c.1547C>T	c.(1546-1548)gCg>gTg	p.A516V		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	516					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)		TTGGCGAAGCGCCACTGTGTC	0.537												
AHNAK2	113146	broad.mit.edu	37	14	105409046	105409046	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr14:105409046G>A	uc010axc.1	-	6	12862	c.12742C>T	c.(12742-12744)Ccc>Tcc	p.P4248S	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P4148S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4248						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCGCCTTGGGGCCTTTCAGG	0.647												
OR4N4	283694	broad.mit.edu	37	15	22383070	22383070	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr15:22383070G>A	uc001yuc.1	+	6	1579	c.598G>A	c.(598-600)Gtc>Atc	p.V200I	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Missense_Mutation_p.V200I	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GCTTCTAATGGTCTTCAACAG	0.522												
SYNM	23336	broad.mit.edu	37	15	99672043	99672043	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr15:99672043C>A	uc002bup.3	+	4	3595	c.3475C>A	c.(3475-3477)Cag>Aag	p.Q1159K	SYNM_uc002buo.3_Intron|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	1160	Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TGACCTAAGTCAGGCAGCGAG	0.587												
ERN2	10595	broad.mit.edu	37	16	23718180	23718180	+	Missense_Mutation	SNP	G	G	A	rs148177655	byFrequency	TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr16:23718180G>A	uc002dma.4	-	5	695	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	ERN2_uc010bxp.3_Missense_Mutation_p.R176W|ERN2_uc010bxq.1_5'UTR	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	128					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TCCTGCTTCCGGCCTGTGGAG	0.592												
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr17:7578394T>C	uc002gim.2	-	4	730	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.3_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.2_Missense_Mutation_p.H140R	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(214)|p.H179Y(90)|p.H179L(78)|p.H179Q(19)|p.P177_C182delPHHERC(16)|p.H178fs*69(15)|p.H179N(14)|p.H179D(11)|p.H178Y(8)|p.0?(8)|p.C176_R181delCPHHER(6)|p.H179P(6)|p.H178fs*3(6)|p.H178P(6)|p.R175_E180delRCPHHE(6)|p.H178Q(5)|p.H178D(5)|p.H178_S183delHHERCS(4)|p.H47L(4)|p.H86L(4)|p.H179fs*68(3)|p.R174fs*24(3)|p.H178N(3)|p.P177_H179delPHH(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.H86R(2)|p.H178fs*6(2)|p.P177_E180delPHHE(2)|p.H47R(2)|p.R174fs*1(2)|p.H178H(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.H179fs*?(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.H179del(1)|p.H178L(1)|p.R175_H178>X(1)|p.P177_C182del(1)|p.R81fs*24(1)|p.H178del(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGCGCTCATGGTGGGGGCA	0.642		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
ZNF286B	729288	broad.mit.edu	37	17	18566092	18566093	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr17:18566092_18566093insT	uc010vyd.1	-	4	977_978	c.726_727insA	c.(724-729)aaacctfs	p.K242fs		NM_001145045	NP_001138517	P0CG31	Z286B_HUMAN	Homo sapiens zinc finger protein 286B (ZNF286B), mRNA.	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						CATTTATGAGGTTTTTTCTCTT	0.366												
LAMA1	284217	broad.mit.edu	37	18	7037694	7037694	+	Silent	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr18:7037694C>T	uc002knm.3	-	11	1714	c.1620G>A	c.(1618-1620)ccG>ccA	p.P540P	LAMA1_uc010wzj.2_Silent_p.P16P	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	540	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	p.I539M(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)	CTTGCTGAGACGGGATCTTCC	0.507												
SIGLEC15	284266	broad.mit.edu	37	18	43418924	43418924	+	Silent	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr18:43418924C>T	uc002lbl.1	+	3	887	c.738C>T	c.(736-738)tcC>tcT	p.S246S	SIGLEC15_uc010xcp.1_Non-coding_Transcript	NM_213602	NP_998767	Q6ZMC9	SIG15_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 15 (SIGLEC15), mRNA.	246	Ig-like C2-type.					integral to membrane				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						TGGGCCGCTCCGAGGCCAGCG	0.711												
HDHD2	84064	broad.mit.edu	37	18	44635107	44635110	+	Frame_Shift_Del	DEL	TAAG	TAAG	-			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr18:44635107_44635110delTAAG	uc002lcs.3	-	6	856_859	c.723_726delCTTA	c.(721-726)tacttafs	p.Y241fs	HDHD2_uc002lct.3_Frame_Shift_Del_p.Y151fs	NM_032124	NP_115500	Q9H0R4	HDHD2_HUMAN	Homo sapiens haloacid dehalogenase-like hydrolase domain containing 2 (HDHD2), mRNA.	241							hydrolase activity			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						TCTCACAAGTTAAGTAAGGAGGTG	0.407												
SERPINB3	6318	broad.mit.edu	37	18	61307011	61307011	+	Splice_Site	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr18:61307011C>T	uc002ljf.3	-	6	556	c.470_splice	c.e6-1	p.E157_splice	SERPINB3_uc002lje.3_Splice_Site_p.E157_splice|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	157					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TTAATTTTTTCTGCAAGGGAA	0.373												
ZNF493	284443	broad.mit.edu	37	19	21606942	21606942	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr19:21606942G>A	uc002npw.3	+	3	1600	c.1481G>A	c.(1480-1482)tGt>tAt	p.C494Y	ZNF493_uc002npx.3_Missense_Mutation_p.C366Y|ZNF493_uc002npy.3_Missense_Mutation_p.C366Y|ZNF493_uc021urq.1_Missense_Mutation_p.C366Y	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TGTGAAGAATGTGGCAAAGCT	0.328												
ZNF99	7652	broad.mit.edu	37	19	22941129	22941129	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr19:22941129T>G	uc021urt.1	-	3	1737	c.1582A>C	c.(1582-1584)Aag>Cag	p.K528Q		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGAATTATCTTATGTTTTCTA	0.333												
ZNF99	7652	broad.mit.edu	37	19	22941154	22941154	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr19:22941154C>G	uc021urt.1	-	3	1712	c.1557G>C	c.(1555-1557)aaG>aaC	p.K519N		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.R518T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTGAGAAATGCTTAAAAGCTT	0.353												
CCDC8	83987	broad.mit.edu	37	19	46914965	46914965	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr19:46914965C>T	uc002pep.3	-	0	1955	c.1103G>A	c.(1102-1104)aGg>aAg	p.R368K		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	368						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GGCCTCTGCCCTCTGATTATC	0.612												
ZNF534	147658	broad.mit.edu	37	19	52942423	52942423	+	Missense_Mutation	SNP	T	T	A	rs112113280		TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr19:52942423T>A	uc002pzk.3	+	3	1816	c.1749T>A	c.(1747-1749)aaT>aaA	p.N583K	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Missense_Mutation_p.N570K	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N583K(2)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GACATAGGAATATTCATACTG	0.438												
A1BG	1	broad.mit.edu	37	19	58863692	58863692	+	Silent	SNP	G	G	A	rs138577019		TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr19:58863692G>A	uc002qsd.4	-	3	632	c.570C>T	c.(568-570)ggC>ggT	p.G190G	A1BG-AS1_uc002qse.3_Intron|A1BG_uc002qsf.2_Non-coding_Transcript|A1BG-AS1_uc002qsg.3_Non-coding_Transcript	NM_130786	NP_570602	P04217	A1BG_HUMAN	Homo sapiens alpha-1-B glycoprotein (A1BG), mRNA.	190	Ig-like V-type 2.					extracellular region		p.G190G(2)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		CAGAGAGGGCGCCTTCCCCAT	0.622												
ZNF638	27332	broad.mit.edu	37	2	71651040	71651040	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:71651040G>A	uc002shx.3	+	21	4719	c.4396G>A	c.(4396-4398)Gga>Aga	p.G1466R	ZNF638_uc010yqw.1_Missense_Mutation_p.G1045R|ZNF638_uc002shz.3_Missense_Mutation_p.G1466R|ZNF638_uc002shy.3_Missense_Mutation_p.G1466R|ZNF638_uc002sia.3_Missense_Mutation_p.G1466R|ZNF638_uc002sib.1_Intron|ZNF638_uc002sic.3_Missense_Mutation_p.G563R|ZNF638_uc002sid.3_Intron	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	1466					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCTTACCAGAGGAGGCAGTGG	0.463												
C2orf78	388960	broad.mit.edu	37	2	74042973	74042973	+	Silent	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:74042973C>T	uc002sjr.1	+	2	1744	c.1623C>T	c.(1621-1623)agC>agT	p.S541S		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	541										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TCAGTAACAGCGCTTCTGTGA	0.502												
C2orf89	129293	broad.mit.edu	37	2	85051153	85051153	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:85051153G>A	uc010ysl.2	-	5	1347	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	C2orf89_uc002sou.4_Missense_Mutation_p.R371W	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	420						integral to membrane				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						CGCTTCTTCCGGAACCTCTGT	0.667												
RGPD4	285190	broad.mit.edu	37	2	108489249	108489249	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:108489249G>A	uc010ywk.2	+	19	4871	c.4789G>A	c.(4789-4791)Gtg>Atg	p.V1597M	RGPD4_uc002tdu.3_Missense_Mutation_p.V784M|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1597					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGAAAGCAAAGTGGAACCTAA	0.378												
TTN	7273	broad.mit.edu	37	2	179412923	179412923	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:179412923G>A	uc021vsy.1	-	287	85951	c.85726C>T	c.(85726-85728)Cgg>Tgg	p.R28576W	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R22271W|TTN_uc021vta.1_Missense_Mutation_p.R22204W|TTN_uc021vtb.1_Missense_Mutation_p.R22079W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29503	Ig-like 132.						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)			CCAGTGATCCGGCTGCCTCCA	0.493												
SPEG	10290	broad.mit.edu	37	2	220309407	220309407	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:220309407G>A	uc010fwg.3	+	1	421	c.421G>A	c.(421-423)Gtg>Atg	p.V141M	SPEG_uc002vlm.3_Non-coding_Transcript|SPEG_uc010fwh.2_5'UTR|SPEG_uc002vln.1_5'UTR	NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	141					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)		CATCAGCGATGTGCAGGGAAC	0.622												
DOCK10	55619	broad.mit.edu	37	2	225706579	225706579	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:225706579T>C	uc010fwz.1	-	22	2842	c.2603A>G	c.(2602-2604)cAa>cGa	p.Q868R	DOCK10_uc002vob.2_Missense_Mutation_p.Q862R	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	868	DHR-1.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTCTCTTTTTTGGCACTCTTG	0.383												
DGKD	8527	broad.mit.edu	37	2	234368926	234368926	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:234368926G>A	uc002vui.1	+	23	2928	c.2916G>A	c.(2914-2916)atG>atA	p.M972I	DGKD_uc002vuj.1_Missense_Mutation_p.M928I|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	972					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ACCCGGAGATGCTGTCCGAGG	0.617												
MSL3P1	151507	broad.mit.edu	37	2	234775617	234775617	+	Silent	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:234775617G>A	uc010znf.2	-	1	463	c.225C>T	c.(223-225)aaC>aaT	p.N75N						Homo sapiens male-specific lethal 3 homolog (Drosophila) pseudogene 1 (MSL3P1), non-coding RNA.																		TATAAGGCACGTTCATGCTGG	0.438												
VPS16	64601	broad.mit.edu	37	20	2846921	2846921	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr20:2846921G>A	uc002whe.3	+	22	2383	c.2335G>A	c.(2335-2337)Gtg>Atg	p.V779M	PTPRA_uc002whj.3_Intron|VPS16_uc002whf.3_Missense_Mutation_p.V635M|VPS16_uc002whg.3_Missense_Mutation_p.V465M	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.	779					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TGCTTCCCGCGTGGGTCCCGA	0.552												
RALGAPA2	57186	broad.mit.edu	37	20	20475882	20475882	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr20:20475882C>A	uc002wrz.3	-	35	5389	c.5246G>T	c.(5245-5247)tGg>tTg	p.W1749L	RALGAPA2_uc002wry.3_Missense_Mutation_p.W1364L|RALGAPA2_uc010zsg.2_Missense_Mutation_p.W1197L|RALGAPA2_uc002wsa.1_Missense_Mutation_p.W521L	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1749	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator 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						GTGTTCAGACCAGACGATATG	0.438												
CHRNA4	1137	broad.mit.edu	37	20	61978100	61978100	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr20:61978100C>T	uc002yes.2	-	5	2052	c.1874G>A	c.(1873-1875)gGc>gAc	p.G625D	CHRNA4_uc002yet.1_Missense_Mutation_p.G449D|CHRNA4_uc010gke.1_Missense_Mutation_p.G554D|CHRNA4_uc002yev.1_Missense_Mutation_p.G449D|CHRNA4_uc010gkf.1_Missense_Mutation_p.G449D	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	625					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CTAGATCATGCCAGCCAGCCA	0.677												
RFPL2	10739	broad.mit.edu	37	22	32589175	32589175	+	Silent	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr22:32589175G>A	uc003amg.3	-	3	1206	c.270C>T	c.(268-270)gaC>gaT	p.D90D	RFPL2_uc003ame.3_Silent_p.D29D|RFPL2_uc003amf.3_5'UTR|RFPL2_uc003amh.3_5'UTR	NM_001098527	NP_001153018	O75678	RFPL2_HUMAN	Homo sapiens ret finger protein-like 2 (RFPL2), transcript variant 2, mRNA.	90							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						GTGCAGCCATGTCCACTGCCA	0.478												
IQCF3	401067	broad.mit.edu	37	3	51863721	51863721	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:51863721G>A	uc021wyy.1	+	5	847	c.59G>A	c.(58-60)cGg>cAg	p.R20Q	IQCF1_uc003dbq.4_Intron|IQCF3_uc021wyz.1_Missense_Mutation_p.R20Q	NM_001085479	NP_001193952	P0C7M6	IQCF3_HUMAN	Homo sapiens IQ motif containing F3 (IQCF3), transcript variant 1, mRNA.	20										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGACAGAGGCGGCAGAAGGTA	0.522												
POU1F1	5449	broad.mit.edu	37	3	87325559	87325559	+	Silent	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:87325559G>A	uc010hoj.1	-	0	179	c.54C>T	c.(52-54)gaC>gaT	p.D18D	POU1F1_uc003dqq.1_Silent_p.D18D	NM_001122757	NP_001116229	P28069	PIT1_HUMAN	Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant beta, mRNA.	18					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		TTGCAGAGGCGTCAGAATTCA	0.478												
UROC1	131669	broad.mit.edu	37	3	126219669	126219669	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:126219669G>C	uc010hsi.2	-	11	1248	c.1194C>G	c.(1192-1194)gaC>gaG	p.D398E	UROC1_uc003eiz.2_Missense_Mutation_p.D338E	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	338					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CTGACCCCAGGTCCACCAAGC	0.632												
ATR	545	broad.mit.edu	37	3	142280158	142280158	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:142280158C>T	uc003eux.4	-	4	1398	c.1276G>A	c.(1276-1278)Gga>Aga	p.G426R		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	426					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|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						GGTGATATTCCATCACTATTA	0.418								Other conserved DNA damage response genes				
MAP3K13	9175	broad.mit.edu	37	3	185165672	185165672	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:185165672C>A	uc010hyf.3	+	5	1238	c.947C>A	c.(946-948)aCg>aAg	p.T316K	MAP3K13_uc011brt.2_Missense_Mutation_p.T109K|MAP3K13_uc003fph.4_Missense_Mutation_p.T84K|MAP3K13_uc011bru.2_Missense_Mutation_p.T172K|MAP3K13_uc003fpi.3_Missense_Mutation_p.T316K|MAP3K13_uc010hyg.3_Missense_Mutation_p.T6K	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	316	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TTTGCTGGCACGGTCGCATGG	0.443												
KNG1	3827	broad.mit.edu	37	3	186457116	186457116	+	Splice_Site	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:186457116G>A	uc011bsa.2	+	9	1273	c.1039_splice	c.e9-1	p.Q347_splice	KNG1_uc003fqr.3_Splice_Site_p.Q347_splice|KNG1_uc021xil.1_Splice_Site_p.Q311_splice	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	347	Cystatin 3.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	TTCATGGATAGCAAAGCCTAG	0.373												
TP63	8626	broad.mit.edu	37	3	189582120	189582120	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:189582120G>A	uc003fry.2	+	4	768	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	TP63_uc003frx.2_Missense_Mutation_p.A227T|TP63_uc003frz.2_Missense_Mutation_p.A227T|TP63_uc010hzc.1_Missense_Mutation_p.A227T|TP63_uc003fsa.2_Missense_Mutation_p.A133T|TP63_uc003fsb.2_Missense_Mutation_p.A133T|TP63_uc003fsc.2_Missense_Mutation_p.A133T|TP63_uc003fsd.2_Missense_Mutation_p.A133T|TP63_uc021xir.1_Missense_Mutation_p.A133T|TP63_uc010hzd.1_Missense_Mutation_p.A48T|TP63_uc003fse.1_Missense_Mutation_p.A108T	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	227					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|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)		TGTTATCCGCGCCATGCCTGT	0.517										HNSCC(45;0.13)		
JAKMIP1	152789	broad.mit.edu	37	4	6107274	6107274	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr4:6107274G>A	uc010idb.1	-	2	1036	c.550C>T	c.(550-552)Cgt>Tgt	p.R184C	JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.R184C|JAKMIP1_uc003giu.4_Missense_Mutation_p.R184C|JAKMIP1_uc011bwc.2_Intron|JAKMIP1_uc003giv.4_Missense_Mutation_p.R184C|JAKMIP1_uc010ide.3_Missense_Mutation_p.R184C	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	184	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TAGGCGGCACGCAGGTCGGCT	0.682												
CENPE	1062	broad.mit.edu	37	4	104079809	104079809	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr4:104079809C>T	uc003hxb.1	-	22	2926	c.2836G>A	c.(2836-2838)Gac>Aac	p.D946N	CENPE_uc003hxc.1_Missense_Mutation_p.D921N	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	946					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTGAGTTGGTCCCTCTCAATT	0.333												
EXOSC9	5393	broad.mit.edu	37	4	122735086	122735086	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr4:122735086G>C	uc003iea.3	+	9	1148	c.1040G>C	c.(1039-1041)tGg>tCg	p.W347S	EXOSC9_uc003idz.3_Missense_Mutation_p.W347S|EXOSC9_uc003ieb.3_Missense_Mutation_p.W331S|EXOSC9_uc010inp.1_Non-coding_Transcript	NM_005033	NP_005024	Q06265	EXOS9_HUMAN	Homo sapiens exosome component 9 (EXOSC9), transcript variant 2, mRNA.	347					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						GAAAACTCCTGGGGTGATCTT	0.413												
GYPA	2993	broad.mit.edu	37	4	145038021	145038021	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr4:145038021G>A	uc003ijo.4	-	4	459	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	GYPA_uc003ijn.2_Intron|GYPA_uc011cia.2_Non-coding_Transcript|GYPA_uc011cib.2_Missense_Mutation_p.R82C|GYPA_uc003ijp.4_Missense_Mutation_p.R83C|GYPA_uc010ioq.3_Missense_Mutation_p.R102C|GYPA_uc010ior.3_Missense_Mutation_p.R50C|GYPA_uc010ios.1_Non-coding_Transcript	NM_002099	NP_002090	P02724	GLPA_HUMAN	Homo sapiens glycophorin A (MNS blood group) (GYPA), mRNA.	115					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)					ATCAGTCGGCGAATACCGTAA	0.368												
ADAM29	11086	broad.mit.edu	37	4	175897195	175897195	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr4:175897195C>A	uc003iuc.3	+	4	1189	c.519C>A	c.(517-519)tgC>tgA	p.C173*	ADAM29_uc003iud.3_Nonsense_Mutation_p.C173*|ADAM29_uc010irr.3_Nonsense_Mutation_p.C173*|ADAM29_uc011cki.2_Nonsense_Mutation_p.C173*|ADAM29_uc021xuo.1_Nonsense_Mutation_p.C173*	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	173					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAATAACATGCCGAATGGAAT	0.368												
CCDC110	256309	broad.mit.edu	37	4	186381243	186381243	+	Silent	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr4:186381243G>A	uc003ixu.4	-	5	574	c.498C>T	c.(496-498)tcC>tcT	p.S166S	CCDC110_uc003ixv.4_Silent_p.S129S|CCDC110_uc011ckt.1_Silent_p.S166S	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.	166						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)		ATGTGTCCTCGGAATGTATCT	0.348												
ADCY2	108	broad.mit.edu	37	5	7743842	7743842	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:7743842G>A	uc003jdz.1	+	14	2000	c.1933G>A	c.(1933-1935)Gtc>Atc	p.V645I	ADCY2_uc011cmo.1_Missense_Mutation_p.V465I	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	645					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|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CATCCTCTTCGTCTGCTTTGC	0.478												
PDZD2	23037	broad.mit.edu	37	5	31995769	31995769	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:31995769C>T	uc003jhl.3	+	3	1454	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C	PDZD2_uc003jhm.3_Missense_Mutation_p.R356C|PDZD2_uc011cnx.1_Missense_Mutation_p.R182C	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	356	PDZ 2.				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						AGGATCAAAGCGCTCACCTCA	0.532												
ADAMTS12	81792	broad.mit.edu	37	5	33576992	33576992	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:33576992C>T	uc003jia.1	-	18	3302	c.3139G>A	c.(3139-3141)Gca>Aca	p.A1047T	ADAMTS12_uc010iuq.1_Missense_Mutation_p.A962T	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1047	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A1047E(1)		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						CTGCTGATTGCTGGAGTGCTT	0.552										HNSCC(64;0.19)		
ADAMTS12	81792	broad.mit.edu	37	5	33684033	33684033	+	Silent	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:33684033G>A	uc003jia.1	-	3	925	c.762C>T	c.(760-762)gcC>gcT	p.A254A	ADAMTS12_uc010iuq.1_Silent_p.A254A	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	254	Peptidase M12B.				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						TCTTTGTGTCGGCCACCACCA	0.547										HNSCC(64;0.19)		
OSMR	9180	broad.mit.edu	37	5	38924670	38924670	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:38924670C>T	uc003jln.2	+	13	2419	c.2017C>T	c.(2017-2019)Cca>Tca	p.P673S	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	673	Fibronectin type-III 4.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GCAGTGCCACCCACGATTTGA	0.358												
CMYA5	202333	broad.mit.edu	37	5	79035031	79035031	+	Silent	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:79035031G>A	uc003kgc.3	+	1	10515	c.10443G>A	c.(10441-10443)ttG>ttA	p.L3481L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	3481						perinuclear region of cytoplasm		p.E3480*(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAAAAGAGTTGGGCAGCGAGA	0.403												
CTNNA1	1495	broad.mit.edu	37	5	138253458	138253458	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:138253458G>A	uc003ldh.3	+	10	1512	c.1417G>A	c.(1417-1419)Gca>Aca	p.A473T	CTNNA1_uc011cyx.2_Missense_Mutation_p.A370T|CTNNA1_uc011cyy.2_Missense_Mutation_p.A350T|CTNNA1_uc003ldi.3_Missense_Mutation_p.A171T|CTNNA1_uc003ldj.3_Missense_Mutation_p.A473T|CTNNA1_uc003ldl.3_Missense_Mutation_p.A103T	NM_001903	NP_001894	P35221	CTNA1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA.	473				A -> P (in Ref. 3; AAA86430/AAA18949).	adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGCTTTAGCAGCAAAACCACA	0.388												
PCDHAC2	56140	broad.mit.edu	37	5	140222780	140222780	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:140222780G>T	uc003lhs.2	+	0	1874	c.1874G>T	c.(1873-1875)gGg>gTg	p.G625V	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.G625V	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	636	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)			TTCCGCGTGGGGCTGTACACG	0.652												
PCDHB7	56129	broad.mit.edu	37	5	140554382	140554382	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:140554382G>A	uc003lit.3	+	0	2140	c.1966G>A	c.(1966-1968)Gcc>Acc	p.A656T	PCDHB8_uc011dai.2_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	656	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T655T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGGCCACCGCCACGCTGCA	0.706												
NMUR2	56923	broad.mit.edu	37	5	151771915	151771915	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:151771915C>T	uc003luv.2	-	3	1251	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	362					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	p.R362Q(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GAAGATGTTCCGCTGGGCAGG	0.532												
TRIM40	135644	broad.mit.edu	37	6	30114887	30114887	+	Silent	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr6:30114887G>A	uc003npk.2	+	3	953	c.567G>A	c.(565-567)gcG>gcA	p.A189A	TRIM40_uc003npm.2_Silent_p.A160A	NM_138700	NP_619645	Q6P9F5	TRI40_HUMAN	Homo sapiens tripartite motif containing 40 (TRIM40), mRNA.	189						intracellular	zinc ion binding			ovary(1)	1						CAGCAGAAGCGGCCAGAATCC	0.597												
TRIM10	10107	broad.mit.edu	37	6	30127012	30127012	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr6:30127012T>C	uc003npo.3	-	1	516	c.440A>G	c.(439-441)cAt>cGt	p.H147R	TRIM10_uc003npn.2_Missense_Mutation_p.H147R	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	147						cytoplasm	zinc ion binding			ovary(1)	1						AAGACACTTATGGATTTGTTC	0.403												
GPR115	221393	broad.mit.edu	37	6	47681719	47681719	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr6:47681719C>A	uc003oyz.1	+	6	909	c.909C>A	c.(907-909)caC>caA	p.H303Q	GPR115_uc003oza.1_Missense_Mutation_p.H246Q|GPR115_uc003ozb.1_Missense_Mutation_p.H246Q|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	246					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						AAGGGTTTCACATCAACCATA	0.393												
DOPEY1	23033	broad.mit.edu	37	6	83830474	83830474	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr6:83830474C>T	uc011dyy.2	+	9	1296	c.1036C>T	c.(1036-1038)Cgc>Tgc	p.R346C	DOPEY1_uc003pjs.1_Missense_Mutation_p.R355C|DOPEY1_uc010kbl.1_Missense_Mutation_p.R346C	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	355					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AAAGCCTTTTCGCATTTTAAT	0.368												
AIM1	202	broad.mit.edu	37	6	106978130	106978130	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr6:106978130A>C	uc003prh.3	+	5	4346	c.3434A>C	c.(3433-3435)gAa>gCa	p.E1145A		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	1145	Beta/gamma crystallin 'Greek key' 3.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GATGATACTGAAGAAATGCAG	0.328												
ELMO1	9844	broad.mit.edu	37	7	37253052	37253052	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:37253052C>T	uc022abv.1	-	11	1552	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	ELMO1_uc011kbc.2_Missense_Mutation_p.R185Q|ELMO1_uc003tfk.2_Missense_Mutation_p.R281Q|ELMO1_uc010kxg.2_Missense_Mutation_p.R281Q	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	281					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.I280I(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CCGCTGGGCTCGGATGACATG	0.433												
ELMO1	9844	broad.mit.edu	37	7	37298915	37298915	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:37298915G>A	uc022abv.1	-	5	994	c.284C>T	c.(283-285)tCg>tTg	p.S95L	ELMO1_uc011kbc.2_5'UTR|ELMO1_uc003tfk.2_Missense_Mutation_p.S95L|ELMO1_uc010kxg.2_Missense_Mutation_p.S95L	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	95					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.S95S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ATCCATACTCGAGGACTGGAT	0.522												
WBSCR17	64409	broad.mit.edu	37	7	70881029	70881029	+	Silent	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:70881029C>T	uc003tvy.3	+	3	744	c.744C>T	c.(742-744)caC>caT	p.H248H	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	248	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TTGATGCCCACGTGGAATTCA	0.567												
NSUN5	55695	broad.mit.edu	37	7	72721634	72721634	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:72721634G>A	uc003txw.3	-	2	414	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Missense_Mutation_p.R113W|NSUN5_uc003txv.3_Missense_Mutation_p.R113W|NSUN5_uc003txx.3_Missense_Mutation_p.R75W	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.	113							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CTCACACCCCGATGAACCTTG	0.637												
SAMD9	54809	broad.mit.edu	37	7	92734204	92734204	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:92734204C>A	uc003umf.3	-	2	1477	c.1207G>T	c.(1207-1209)Gat>Tat	p.D403Y	SAMD9_uc003umg.3_Missense_Mutation_p.D403Y|SAMD9_uc022ahg.1_Missense_Mutation_p.D403Y	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	403						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTAACAAATCTTGATTTCCT	0.323												
PON1	5444	broad.mit.edu	37	7	94931534	94931534	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:94931534T>A	uc003uns.3	-	7	989	c.892A>T	c.(892-894)Aat>Tat	p.N298Y	PON1_uc011kih.2_Missense_Mutation_p.N298Y	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	298					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GCAGGAGGATTCTCTGAGTCA	0.398												
MUC17	140453	broad.mit.edu	37	7	100675948	100675948	+	Silent	SNP	T	T	C			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:100675948T>C	uc003uxp.1	+	2	1304	c.1251T>C	c.(1249-1251)ccT>ccC	p.P417P	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	417	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.I416N(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)					CAACAATTCCTGTTGACTCCA	0.458												
TCRBV2S1	154754	broad.mit.edu	37	7	142468305	142468305	+	Splice_Site	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:142468305C>T	uc003vzp.2	+						TRBV5-1_uc011krr.1_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|TCRB_uc011ksp.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		GAGCTGCTGGCGAGTTTCATG	0.537												
ARHGEF35	445328	broad.mit.edu	37	7	143884194	143884194	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:143884194A>T	uc003wdz.2	-	1	1456	c.1283T>A	c.(1282-1284)cTc>cAc	p.L428H	ARHGEF35_uc022aog.1_Missense_Mutation_p.L428H	NM_001003702	NP_001003702	A5YM69	ARG35_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 35 (ARHGEF35), mRNA.	428										kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						CTGAGTCACGAGATATGAGGC	0.572												
GALNT11	63917	broad.mit.edu	37	7	151805176	151805176	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:151805176C>G	uc010lqg.1	+	5	996	c.766C>G	c.(766-768)Cag>Gag	p.Q256E	GALNT11_uc011kvm.1_Missense_Mutation_p.Q175E|GALNT11_uc003wku.2_Missense_Mutation_p.Q256E|GALNT11_uc011kvn.1_Non-coding_Transcript|GALNT11_uc003wkw.1_Missense_Mutation_p.Q4E	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) (GALNT11), mRNA.	256	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		GATGTGGCTGCAGCCCTTGCT	0.582												
DOCK5	80005	broad.mit.edu	37	8	25167952	25167952	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:25167952G>A	uc003xeg.3	+	12	1359	c.1222G>A	c.(1222-1224)Ggt>Agt	p.G408S	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.G122S|DOCK5_uc003xei.3_5'UTR	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	408						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GCTCTTGCCCGGTGACCTCAC	0.408												
RAB11FIP1	80223	broad.mit.edu	37	8	37730005	37730005	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:37730005G>A	uc003xkm.2	-	3	2371	c.2315C>T	c.(2314-2316)gCg>gTg	p.A772V	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_Missense_Mutation_p.A101V|RAB11FIP1_uc003xko.1_Missense_Mutation_p.A101V|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	772					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AAGAGGGGGCGCCACTTCTTC	0.567												
CPQ	10404	broad.mit.edu	37	8	97797551	97797551	+	Silent	SNP	T	T	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:97797551T>A	uc003yhw.3	+	1	592	c.426T>A	c.(424-426)ccT>ccA	p.P142P	CPQ_uc010mbe.2_Silent_p.P142P	NM_016134	NP_057218	Q9Y646	PGCP_HUMAN	Homo sapiens plasma glutamate carboxypeptidase (PGCP), mRNA.	142					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										TTGGGACTCCTCCAGAAGGTA	0.398												
RIMS2	9699	broad.mit.edu	37	8	105001597	105001597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:105001597C>T	uc003yls.3	+	14	2567	c.2326C>T	c.(2326-2328)Cga>Tga	p.R776*	RIMS2_uc003ylp.3_Nonsense_Mutation_p.R998*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.R790*|RIMS2_uc003ylq.3_Nonsense_Mutation_p.R790*|RIMS2_uc003ylr.3_Nonsense_Mutation_p.R837*	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1060					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.R776*(1)|p.R776Q(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TACAATTAGCCGAATGGACAG	0.368										HNSCC(12;0.0054)		
ENPP2	5168	broad.mit.edu	37	8	120569920	120569920	+	Silent	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:120569920G>A	uc003yos.2	-	25	2675	c.2589C>T	c.(2587-2589)gaC>gaT	p.D863D	ENPP2_uc011lic.2_Silent_p.D349D|ENPP2_uc003yor.2_Silent_p.D446D|ENPP2_uc010mdd.2_Silent_p.D836D|ENPP2_uc003yot.2_Silent_p.D811D	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	811					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	p.E862K(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATTTTGATTCGTCCTCTGAGC	0.453												
GLI4	2738	broad.mit.edu	37	8	144358513	144358513	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:144358513T>G	uc003yxx.3	+	3	755	c.670T>G	c.(670-672)Tcg>Gcg	p.S224A	ZFP41_uc003yxv.3_Non-coding_Transcript	NM_138465	NP_612474	P10075	GLI4_HUMAN	Homo sapiens GLI family zinc finger 4 (GLI4), mRNA.	224						nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CCGCGGCTGGTCGGGCTTCAT	0.652												
EPPK1	83481	broad.mit.edu	37	8	144940380	144940380	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:144940380C>T	uc003zaa.1	-	0	7055	c.7042G>A	c.(7042-7044)Gtc>Atc	p.V2348I		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2348						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)			GGGTCGATGACGCCGCCCGTG	0.697												
TAF1L	138474	broad.mit.edu	37	9	32630560	32630560	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:32630560G>C	uc003zrg.1	-	0	5108	c.5018C>G	c.(5017-5019)aCa>aGa	p.T1673R	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.	1673					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|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			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)		ACTGAGGGATGTGTTGGTATC	0.473												
FAM75C1	441452	broad.mit.edu	37	9	90536517	90536517	+	Silent	SNP	A	A	G			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:90536517A>G	uc010mqi.3	+	3	1724	c.1695A>G	c.(1693-1695)tcA>tcG	p.S565S	FAM75C1_uc004apq.4_Silent_p.S548S	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		GGAGTGACTCAGGAAGTGATT	0.507												
C9orf156	51531	broad.mit.edu	37	9	100672419	100672419	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:100672419C>A	uc004axv.1	-	3	966	c.889G>T	c.(889-891)Gtc>Ttc	p.V297F	C9orf156_uc004axw.1_Missense_Mutation_p.V194F|C9orf156_uc010msq.1_Missense_Mutation_p.V194F	NM_016481	NP_057565	Q9BU70	NAP1_HUMAN	Homo sapiens chromosome 9 open reading frame 156 (C9orf156), mRNA.	297					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				CCTTGCAAGACTGCTGCTCCT	0.562												
ANKS6	203286	broad.mit.edu	37	9	101530447	101530447	+	Silent	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:101530447C>T	uc004ayu.3	-	10	2079	c.2058G>A	c.(2056-2058)cgG>cgA	p.R686R	ANKS6_uc004ayv.2_Silent_p.R148R|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Silent_p.R385R	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.	686	Ser-rich.									endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CAGGGCTTGACCGATGGCTGG	0.577												
GRIN3A	116443	broad.mit.edu	37	9	104499635	104499635	+	Silent	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:104499635G>A	uc004bbp.2	-	0	1228	c.627C>T	c.(625-627)ctC>ctT	p.L209L	GRIN3A_uc004bbq.1_Silent_p.L209L	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	209					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TGACCAAGTCGAGCTCCATCA	0.597												
OR13C5	138799	broad.mit.edu	37	9	107361108	107361108	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:107361108T>A	uc011lvp.2	-	0	587	c.587A>T	c.(586-588)gAg>gTg	p.E196V		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CAGGATGAACTCATTGCCTGA	0.383												
KCNT1	57582	broad.mit.edu	37	9	138671275	138671275	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:138671275G>A	uc011mdq.2	+	23	2874	c.2800G>A	c.(2800-2802)Gcc>Acc	p.A934T	KCNT1_uc011mdr.2_Missense_Mutation_p.A761T|KCNT1_uc010nbf.3_Missense_Mutation_p.A889T|KCNT1_uc004cgo.1_Missense_Mutation_p.A683T	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	934						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCAGTTCCGCGCCAAGGACAG	0.622												
CXorf57	55086	broad.mit.edu	37	X	105881005	105881005	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chrX:105881005C>T	uc004emi.4	+	7	1575	c.1424C>T	c.(1423-1425)cCg>cTg	p.P475L	CXorf57_uc004emj.4_Missense_Mutation_p.P475L|CXorf57_uc004emh.2_Missense_Mutation_p.P475L|Mir_548_uc022ccb.1_5'Flank	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.	475										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						AGAGGCCAGCCGTATACGTAT	0.368