Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CCDC65	85478	broad.mit.edu	37	12	49308208	49308208	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:49308208G>A	uc001rso.3	+	2	549	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K		NM_033124	NP_149115	Q8IXS2	CCD65_HUMAN	Homo sapiens coiled-coil domain containing 65 (CCDC65), mRNA.	108										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AGACCTGTCCGAAGCCGAGGA	0.512000														47			21		0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140564391	140564391	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:140564391G>A	uc003liv.3	+	0	3412	c.2257G>A	c.(2257-2259)Gtg>Atg	p.V753M	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	753					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAATACGAGGTGTGTCTGAC	0.557000														97			35		0	0	1	0	0
TBRG4	9238	broad.mit.edu	37	7	45141670	45141670	+	Splice_Site	SNP	C	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:45141670C>A	uc011kcd.2	-	8	1404	c.1355_splice	c.e8-1	p.G452_splice	TBRG4_uc003tmu.3_Splice_Site_p.G266_splice|TBRG4_uc003tmv.3_Splice_Site_p.G441_splice|TBRG4_uc003tmw.3_Splice_Site_p.G331_splice|TBRG4_uc003tmx.3_Splice_Site_p.G331_splice	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN	Homo sapiens transforming growth factor beta regulator 4 (TBRG4), transcript variant 1, mRNA.	441					G1 phase of mitotic cell cycle|apoptosis|cell cycle arrest|cellular respiration|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						GACTTGCCCCCTAGGAGACAA	0.607000														41			20		1.50039e-11	1.51847e-11	1	1	0
TMCC3	57458	broad.mit.edu	37	12	94975964	94975964	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:94975964G>A	uc001tdj.2	-	1	547	c.429C>T	c.(427-429)atC>atT	p.I143I	TMCC3_uc001tdi.2_Silent_p.I112I	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA.	143						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CATTCTGCTCGATCTCTCTGA	0.458000														49			25		0	0	1	0	0
EIF2C1	26523	broad.mit.edu	37	1	36385145	36385145	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:36385145C>T	uc001bzl.3	+	18	2724	c.2511C>T	c.(2509-2511)ccC>ccT	p.P837P	EIF2C1_uc001bzk.3_Silent_p.P762P|EIF2C1_uc009vuy.3_Non-coding_Transcript	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	837					negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGCGGGACCCCCAGGCCCTGG	0.542000														7			12		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10535910	10535910	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:10535910G>A	uc002gmq.2	-	33	4927	c.4839C>T	c.(4837-4839)atC>atT	p.I1613I		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1613					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCTTGAGCCGGATGGCTTCAT	0.582000														210			89		0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222712034	222712034	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:222712034G>A	uc001hnh.1	-	4	1591	c.1533C>T	c.(1531-1533)tcC>tcT	p.S511S		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	511					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TGAGATTTGGGGATTCACAAC	0.438000														35			22		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28983456	28983456	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:28983456C>T	uc002kwr.2	+	10	1630	c.1495C>T	c.(1495-1497)Cct>Tct	p.P499S	DSG4_uc002kwq.2_Missense_Mutation_p.P499S	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	499					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AAACATTTTTCCTGAAAGAAG	0.393000														16			5		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183658118	183658118	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:183658118G>A	uc003ivd.1	+	15	3200	c.3125G>A	c.(3124-3126)gGa>gAa	p.G1042E	ODZ3_uc003ive.1_Missense_Mutation_p.G448E	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1042					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GCTGTAGTAGGAAGACTCTTC	0.388000														59			19		0	0	1	0	0
WIZ	58525	broad.mit.edu	37	19	15535023	15535023	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:15535023G>A	uc002nbc.3	-	6	2741	c.2718C>T	c.(2716-2718)ttC>ttT	p.F906F	WIZ_uc002nba.4_Silent_p.F773F|WIZ_uc002nbb.4_Silent_p.F732F	NM_021241	NP_067064	O95785	WIZ_HUMAN	Homo sapiens widely interspaced zinc finger motifs (WIZ), mRNA.	1589						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						TGTTGCCCACGAACTTGACAA	0.647000														10			4		0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37299012	37299012	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:37299012G>A	uc003jku.1	-	31	3869	c.3751C>T	c.(3751-3753)Ctt>Ttt	p.L1251F	NUP155_uc003jkt.1_Missense_Mutation_p.L1192F|NUP155_uc010iuz.1_Missense_Mutation_p.L1187F	NM_153485	NP_004289	O75694	NU155_HUMAN	Homo sapiens nucleoporin 155kDa (NUP155), transcript variant 1, mRNA.	1251					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTTTGCCAAGGAGAACAATC	0.418000														16			6		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408643	105408644	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:105408643_105408644GG>AA	uc010axc.1	-	6	13264_13265	c.13144_13145CC>TT	c.(13144-13146)ccg>TTg	p.P4382L	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P4282L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4382						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)			CTGCAGCTTCGGCAGGTGCCCT	0.599000														103			47		0	0	1	0	0
C2orf55	343990	broad.mit.edu	37	2	99448892	99448892	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:99448892C>T	uc002szf.1	-	4	753	c.459G>A	c.(457-459)atG>atA	p.M153I		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	153										NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						CCTCAGAGCTCATGCCGGCAT	0.572000														47			23		0	0	1	0	0
SPDYE7P	441251	broad.mit.edu	37	7	72338280	72338280	+	RNA	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:72338280G>A	uc010lal.1	-	0		c.1376C>T								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		CCCAGGCCAGGAATCTTTTAA	0.527000														129			46		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19483434	19483434	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:19483434G>A	uc002dgc.4	+	10	2556	c.1807G>A	c.(1807-1809)Gag>Aag	p.E603K	TMC5_uc010vaq.2_Intron|TMC5_uc002dgb.4_Missense_Mutation_p.E603K|TMC5_uc010var.2_Missense_Mutation_p.E603K|TMC5_uc002dgd.1_Missense_Mutation_p.E357K|TMC5_uc002dge.4_Missense_Mutation_p.E357K|TMC5_uc002dgf.4_Missense_Mutation_p.E286K|TMC5_uc002dgg.4_Missense_Mutation_p.E244K	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	603						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCTCCGTCAGGAGAATTCCAA	0.532000														101			43		0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111887741	111887741	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:111887741G>A	uc003dyu.3	-	24	3442	c.3220C>T	c.(3220-3222)Cct>Tct	p.P1074S	SLC9C1_uc011bhu.2_Missense_Mutation_p.P337S|SLC9C1_uc010hqc.3_Missense_Mutation_p.P1026S	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	1074					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CATGTTATAGGAATTAAGAAA	0.318000														54			12		0	0	1	0	0
ZNF530	348327	broad.mit.edu	37	19	58117412	58117412	+	Silent	SNP	C	T	T	rs143267609	byFrequency	TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:58117412C>T	uc002qpk.2	+	2	739	c.519C>T	c.(517-519)gtC>gtT	p.V173V	ZNF530_uc002qpl.3_Non-coding_Transcript|ZNF530_uc021vcm.1_5'Flank	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	Homo sapiens zinc finger protein 530 (ZNF530), mRNA.	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTGGGGAAGTCGGGAGGGACT	0.502000														51			13		0	0	1	0	0
ZNF354C	30832	broad.mit.edu	37	5	178506063	178506064	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:178506063_178506064CC>TT	uc003mju.3	+	4	745_746	c.630_631CC>TT	c.(628-633)taccca>taTTca	p.P211S		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Homo sapiens zinc finger protein 354C (ZNF354C), mRNA.	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCCAGATTTACCCAGGAGGAAA	0.366000														24			11		0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88707124	88707124	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:88707124C>T	uc001xwm.3	-	2	565	c.443G>A	c.(442-444)gGa>gAa	p.G148E	KCNK10_uc001xwn.3_Missense_Mutation_p.G148E|KCNK10_uc001xwo.3_Missense_Mutation_p.G143E	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	143					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.N147N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGAAGAGTTTCCTATTGGACT	0.418000														47			26		0	0	1	0	0
OR1K1	392392	broad.mit.edu	37	9	125562578	125562578	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:125562578C>T	uc011lze.2	+	0	177	c.177C>T	c.(175-177)ccC>ccT	p.P59P		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily K, member 1 (OR1K1), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						TTCATGCACCCATGTACTTCC	0.572000														50			16		0	0	1	0	0
ZNF735	730291	broad.mit.edu	37	7	63667602	63667602	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:63667602C>T	uc011kdn.2	+	0	22	c.22C>T	c.(22-24)Cct>Tct	p.P8S		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										ACCGGGACCCCCTGGAAGCCG	0.562000														42			22		0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63488152	63488152	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:63488152C>T	uc001nxq.3	+	2	2365	c.2178C>T	c.(2176-2178)ttC>ttT	p.F726F	RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Silent_p.F614F|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Silent_p.F707F|RTN3_uc001nxo.3_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	726					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TAGGTGTTTTCCCTACCCAAG	0.393000														35			12		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50775127	50775127	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:50775127C>T	uc010enu.1	+	25	3240	c.3193C>T	c.(3193-3195)Cgt>Tgt	p.R1065C	MYH14_uc002prq.1_Missense_Mutation_p.R1032C|MYH14_uc002prr.1_Missense_Mutation_p.R1024C	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1024					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCTGGAAGATCGTCTGGCCGA	0.582000														19			6		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815630	106815630	+	Missense_Mutation	SNP	G	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:106815630G>T	uc003ymd.3	+	7	3343	c.3320G>T	c.(3319-3321)gGt>gTt	p.G1107V	ZFPM2_uc011lhs.2_Missense_Mutation_p.G838V	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	1107					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ATAGCAAAAGGTGTGAATGGT	0.443000														30			8		0.000274275	0.000275094	1	1	0
NLRP11	204801	broad.mit.edu	37	19	56319327	56319327	+	Missense_Mutation	SNP	A	C	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:56319327A>C	uc010ygf.2	-	5	2606	c.1895T>G	c.(1894-1896)aTg>aGg	p.M632R	NLRP11_uc002qlz.3_Intron|NLRP11_uc002qmb.3_Missense_Mutation_p.M533R|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	632							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GAGGCTCTCCATTGTATAAAA	0.408000														56			37		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26906869	26906869	+	Missense_Mutation	SNP	A	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:26906869A>T	uc003jgs.1	-	3	771	c.602T>A	c.(601-603)aTa>aAa	p.I201K	CDH9_uc010iug.3_Missense_Mutation_p.I201K	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	201	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S200R(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCCTTGCAATATGCTATAGAC	0.383000														23			8		0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784168	151784168	+	Silent	SNP	G	A	A	rs141055680	byFrequency	TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:151784168G>A	uc003luv.2	-	0	673	c.507C>T	c.(505-507)atC>atT	p.I169I		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	169					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.G168S(1)		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)			AGCCCCAGACGATGCCGAGGA	0.642000														56			25		0	0	1	0	0
NRBP2	340371	broad.mit.edu	37	8	144918153	144918153	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:144918153G>A	uc011lkt.2	-	15	1505	c.1365C>T	c.(1363-1365)acC>acT	p.T455T	NRBP2_uc003yzw.3_Silent_p.T247T|NRBP2_uc010mfl.3_Silent_p.T247T|NRBP2_uc010mfm.3_Silent_p.T212T|NRBP2_uc011lks.2_Silent_p.T212T|NRBP2_uc003yzy.3_Silent_p.T212T|NRBP2_uc003yzv.3_Silent_p.T212T|NRBP2_uc003yzz.1_Silent_p.T105T	NM_178564	NP_848659	Q9NSY0	NRBP2_HUMAN	Homo sapiens nuclear receptor binding protein 2 (NRBP2), mRNA.	455					negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity			central_nervous_system(2)|kidney(1)|large_intestine(2)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCAGGTCGTAGGTCAGCTGCC	0.716000														25			5		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123556451	123556451	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:123556451G>A	uc010nqy.3	-	23	4206	c.4142C>T	c.(4141-4143)cCt>cTt	p.P1381L	ODZ1_uc011muj.2_Missense_Mutation_p.P1380L|ODZ1_uc004euj.3_Missense_Mutation_p.P1374L	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1374					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						ATTGTCCATAGGATTTACTGC	0.443000														28			42		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9402034	9402034	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:9402034G>A	uc021wam.1	+	22	2224	c.2209G>A	c.(2209-2211)Gaa>Aaa	p.E737K	PLCB4_uc010gbw.1_Missense_Mutation_p.E737K|PLCB4_uc010gbx.3_Missense_Mutation_p.E749K|PLCB4_uc021wal.1_Missense_Mutation_p.E737K|PLCB4_uc002wnh.3_Missense_Mutation_p.E584K	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	737	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.E737K(2)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CATACGTAAGGAATTCCGAAC	0.408000														39			15		0	0	1	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171225	68171225	+	Missense_Mutation	SNP	A	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:68171225A>T	uc010dfg.3	+	1	446	c.45A>T	c.(43-45)gaA>gaT	p.E15D	KCNJ2_uc002jir.3_Missense_Mutation_p.E15D|KCNJ2_uc021ucj.1_Missense_Mutation_p.E15D	NM_000891	NP_000882	P63252	IRK2_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 2 (KCNJ2), mRNA.	15					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					TCTCTTCAGAAGAAGACGGTA	0.522000														31			31		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427830	119427830	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:119427830G>A	uc001ehl.1	-	7	1331	c.1016C>T	c.(1015-1017)tCc>tTc	p.S339F	TBX15_uc009whj.1_Missense_Mutation_p.S163F	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	445						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TGAGATCAGGGATGGAGTCCT	0.567000														28			38		0	0	1	0	0
CXCR4	7852	broad.mit.edu	37	2	136872604	136872604	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:136872604G>A	uc002tuz.3	-	1	989	c.894C>T	c.(892-894)aaC>aaT	p.N298N	CXCR4_uc002tuy.3_Silent_p.N302N|CXCR4_uc010fnk.3_Silent_p.N283N	NM_003467	NP_003458	P61073	CXCR4_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 4 (CXCR4), transcript variant 2, mRNA.	298					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	C-X-C chemokine receptor activity|actin binding|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	AGAGGATGGGGTTCAGACAAC	0.507000														39			18		0	0	1	0	0
SRSF11	9295	broad.mit.edu	37	1	70701204	70701204	+	Missense_Mutation	SNP	G	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:70701204G>T	uc001des.3	+	5	685	c.561G>T	c.(559-561)ttG>ttT	p.L187F	SRSF11_uc001det.3_Missense_Mutation_p.L187F|SRSF11_uc001deu.2_Missense_Mutation_p.L187F|SRSF11_uc001dev.3_5'UTR|SRSF11_uc001dew.3_Missense_Mutation_p.L127F	NM_004768	NP_004759	Q05519	SRS11_HUMAN	Homo sapiens serine/arginine-rich splicing factor 11 (SRSF11), transcript variant 1, mRNA.	187					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding			large_intestine(3)|ovary(2)|skin(1)	6						CAGATCAGTTGCTGAAGCTTA	0.318000														15			27		2.36697e-06	2.38353e-06	1	1	0
TTN	7273	broad.mit.edu	37	2	179654209	179654209	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:179654209C>T	uc021vsy.1	-	12	2179	c.1954G>A	c.(1954-1956)Gag>Aag	p.E652K	TTN_uc021vsz.1_Missense_Mutation_p.E606K|TTN_uc021vta.1_Missense_Mutation_p.E606K|TTN_uc021vtb.1_Missense_Mutation_p.E606K|TTN_uc002unb.2_Missense_Mutation_p.E652K|TTN_uc010frg.1_Missense_Mutation_p.E234K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	652							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)			GCAGTTTTCTCGGCTTCCTTT	0.398000														26			8		0	0	1	0	0
BRMS1	25855	broad.mit.edu	37	11	66105743	66105743	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:66105743G>A	uc001oho.1	-	8	851	c.704C>T	c.(703-705)gCt>gTt	p.A235V	RIN1_uc010roy.1_5'Flank|RIN1_uc009yrd.1_5'Flank|RIN1_uc001ohn.1_5'Flank|RIN1_uc010roz.1_5'Flank|RIN1_uc010rpa.1_5'Flank|BRMS1_uc001ohp.1_Missense_Mutation_p.A235V|BRMS1_uc009yre.3_3'UTR	NM_001024957	NP_001020128	Q9HCU9	BRMS1_HUMAN	Homo sapiens breast cancer metastasis suppressor 1 (BRMS1), transcript variant 2, mRNA.	235					apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of anti-apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						AGGGGACACAGCTGCCCTAGC	0.602000														10			7		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43243841	43243841	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:43243841C>T	uc002lbe.3	+	10	2259	c.1443C>T	c.(1441-1443)atC>atT	p.I481I	SLC14A2_uc010dnj.3_Silent_p.I481I	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	481						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.I481I(2)|p.H480H(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TATTTCACATCGAGTGGTCAT	0.582000														12			9		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997869	115997869	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:115997869C>T	uc003ibu.3	-	1	1003	c.324G>A	c.(322-324)atG>atA	p.M108I	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	108	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGGCAATAACCATGTGGTACT	0.408000														28			11		0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100841405	100841405	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:100841405C>T	uc003pqj.4	-	9	1995	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	SIM1_uc021zdg.1_Missense_Mutation_p.E510K|SIM1_uc010kcu.3_Missense_Mutation_p.E510K	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	510	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		ATGCTGTTTTCATAGGCTTCT	0.597000														46			28		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897917	175897917	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:175897917G>A	uc003iuc.3	+	4	1911	c.1241G>A	c.(1240-1242)gGa>gAa	p.G414E	ADAM29_uc003iud.3_Missense_Mutation_p.G414E|ADAM29_uc010irr.3_Missense_Mutation_p.G414E|ADAM29_uc011cki.2_Missense_Mutation_p.G414E|ADAM29_uc021xuo.1_Missense_Mutation_p.G414E	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	414	Disintegrin.				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)		TGTGACTGTGGACCTTTAAAG	0.433000														73			15		0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156381695	156381695	+	Missense_Mutation	SNP	G	A	A	rs115724540	byFrequency	TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:156381695G>A	uc003lwh.2	-	1	188	c.131C>T	c.(130-132)tCc>tTc	p.S44F	TIMD4_uc010jii.2_Missense_Mutation_p.S44F	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	44	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGAGACCAGGATGAGTACAG	0.542000														29			8		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80714206	80714206	+	Silent	SNP	A	G	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:80714206A>G	uc001szd.3	+	32	3786	c.3780A>G	c.(3778-3780)ttA>ttG	p.L1260L		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTACAGCATTAGCACTTGTTT	0.398000														38			13		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90073811	90073811	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:90073811G>A	uc003kju.3	+	61	12713	c.12617G>A	c.(12616-12618)gGa>gAa	p.G4206E	GPR98_uc003kjt.3_Missense_Mutation_p.G1912E	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4206	Calx-beta 28.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAAACATCAGGAAAACTGACA	0.458000														5			6		0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471283	47471283	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:47471283C>T	uc001rpm.3	-	2	2158	c.1503G>A	c.(1501-1503)agG>agA	p.R501R	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Silent_p.R501R|AMIGO2_uc001rpl.3_Silent_p.R501R|AMIGO2_uc021qxg.1_Silent_p.R501R	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	501					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					CAGATTTCCCCCTCGTGGACT	0.458000														25			9		0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121774692	121774692	+	Missense_Mutation	SNP	G	A	A	rs142855444		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:121774692G>A	uc003idn.3	-	2	431	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C	PRDM5_uc003ido.3_Missense_Mutation_p.R61C|PRDM5_uc010ine.3_Missense_Mutation_p.R61C|PRDM5_uc010inf.3_Missense_Mutation_p.R61C|PRDM5_uc003idp.1_Missense_Mutation_p.R61C	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	Homo sapiens PR domain containing 5 (PRDM5), mRNA.	61	SET.				histone H3-K9 methylation|histone deacetylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTACTCCCACGAACCTGAAAC	0.423000														165			59		0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13229022	13229022	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:13229022C>T	uc001rbi.3	+	10	1610	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F	KIAA1467_uc021qvn.1_Non-coding_Transcript	NM_020853	NP_065904	A2RU67	K1467_HUMAN	Homo sapiens KIAA1467 (KIAA1467), mRNA.	529						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		ATCCTGCGTTCCCCTCCATCC	0.557000														46			20		0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10755744	10755744	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:10755744C>T	uc003wtk.1	-	2	1671	c.1644G>A	c.(1642-1644)acG>acA	p.T548T		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	548						integral to membrane		p.V547I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CCTGTTGTTCCGTTACGGCTC	0.627000														39			13		0	0	1	0	0
IFNA21	3452	broad.mit.edu	37	9	21166381	21166381	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:21166381G>A	uc003zom.2	-	0	279	c.231C>T	c.(229-231)atC>atT	p.I77I		NM_002175	NP_002166	P01568	IFN21_HUMAN	Homo sapiens interferon, alpha 21 (IFNA21), mRNA.	77					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GGAGGACAGAGATGGCTTGAG	0.488000														36			35		0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63174006	63174006	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:63174006C>T	uc001nww.3	+	6	1379	c.1111C>T	c.(1111-1113)Cat>Tat	p.H371Y	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	371					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CCTTAATCTCCATGTCCAGCA	0.418000														83			21		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				59			84		3.66348e-25	3.73387e-25	1	1	0
GRM8	2918	broad.mit.edu	37	7	126173840	126173840	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:126173840G>A	uc003vlr.2	-	7	1907	c.1596C>T	c.(1594-1596)gtC>gtT	p.V532V	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.V532V|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	532					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.G531E(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGCAGCAAGGGACCCCTTTCA	0.547000										HNSCC(24;0.065)				51			20		0	0	1	0	0
LSM14A	26065	broad.mit.edu	37	19	34712526	34712526	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:34712526C>T	uc002nvb.4	+	8	1447	c.1251C>T	c.(1249-1251)ttC>ttT	p.F417F	LSM14A_uc002nva.4_Silent_p.F417F|LSM14A_uc010xru.2_Silent_p.F376F|LSM14A_uc002nvc.4_Silent_p.F223F	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	Homo sapiens LSM14A, SCD6 homolog A (S. cerevisiae) (LSM14A), transcript variant 1, mRNA.	417					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					GTCTTGGTTTCCGTGGTGGCA	0.577000														37			18		0	0	1	0	0
TBL2	26608	broad.mit.edu	37	7	72985041	72985041	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:72985041G>A	uc003tyh.3	-	6	1274	c.1140C>T	c.(1138-1140)tcC>tcT	p.S380S	TBL2_uc011kex.2_Silent_p.S344S|TBL2_uc010lbg.3_Silent_p.S285S|TBL2_uc003tyi.3_Silent_p.S215S|TBL2_uc011key.2_Silent_p.S251S	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	Homo sapiens transducin (beta)-like 2 (TBL2), mRNA.	380										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGATGTCAAAGGACAAGTTGG	0.602000														54			30		0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1017326	1017326	+	Silent	SNP	G	T	T	rs71472140		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:1017326G>T	uc001lsw.2	-	30	5526	c.5475C>A	c.(5473-5475)acC>acA	p.T1825T		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1825	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGTTGGATAGGTAGTGGTGG	0.552000														630			6		0.00307968	0.00308274	1	1	0
UGT2B10	7365	broad.mit.edu	37	4	69681867	69681867	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:69681867G>A	uc003hee.3	+	0	155	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	UGT2B10_uc011cam.2_Missense_Mutation_p.E44K	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	44					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AATCCTGAAAGAACTTGTTCA	0.428000														80			29		0	0	1	0	0
IL9R	3581	broad.mit.edu	37	X	155234227	155234227	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:155234227G>A	uc004fnv.1	+	4	755	c.576G>A	c.(574-576)tgG>tgA	p.W192*	IL9R_uc010nvn.2_Nonsense_Mutation_p.W171*|IL9R_uc004fnu.1_Nonsense_Mutation_p.W227*	NM_002186	NP_002177	Q01113	IL9R_HUMAN	Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA.	192	Fibronectin type-III.				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AAGAGGCCTGGGAGGTAACAC	0.562000														15			20		0	0	1	0	0
STAP2	55620	broad.mit.edu	37	19	4333717	4333717	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:4333717G>A	uc002mab.3	-	2	462	c.271C>T	c.(271-273)Ctc>Ttc	p.L91F	STAP2_uc002mac.3_Missense_Mutation_p.L91F|STAP2_uc021unb.1_Missense_Mutation_p.L91F|STAP2_uc021unc.1_Missense_Mutation_p.L91F|STAP2_uc002mad.3_5'UTR	NM_001013841	NP_001013863	Q9UGK3	STAP2_HUMAN	Homo sapiens signal transducing adaptor family member 2 (STAP2), transcript variant 2, mRNA.	91	PH.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATCCCGGAGAATCAGGCTG	0.552000														36			12		0	0	1	0	0
HLA-DQB1	3119	broad.mit.edu	37	6	32629961	32629961	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:32629961G>A	uc021yvz.1	-	2	526	c.444C>T	c.(442-444)gtC>gtT	p.V148V	HLA-DQB1_uc010juc.2_Silent_p.V103V|HLA-DQB1_uc003obw.3_Silent_p.V148V|HLA-DQB1_uc011dqd.2_Silent_p.V148V|HLA-DQB1_uc011dqe.2_Missense_Mutation_p.S138F	NM_001243961	NP_001230890	P01920	DQB1_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 1 (HLA-DQB1), transcript variant 2, mRNA.	148	Beta-2.|Ig-like C1-type.		V -> I (in allele DQB1*05:01, allele DQB1*05:02 and allele DQB1*05:03; dbSNP:rs1049100).		T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	MHC class II receptor activity			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCACCGAGCAGACCAGCAGGT	0.552000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					23			10		0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48267471	48267471	+	Silent	SNP	G	A	A	rs138713871	byFrequency	TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:48267471G>A	uc001ngs.1	+	0	816	c.816G>A	c.(814-816)gcG>gcA	p.A272A		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A272V(1)		breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGATAACCGCGATCCTGAACC	0.473000														42			23		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077594	9077594	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:9077594G>A	uc002mkp.3	-	2	10056	c.9852C>T	c.(9850-9852)tcC>tcT	p.S3284S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3285	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGGGGAGAGGGAGACCCTTT	0.547000														74			29		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108175612	108175612	+	Splice_Site	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:108175612C>T	uc003dxa.1	-	20	2255	c.2198_splice	c.e20+1	p.R733_splice		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	733	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TGTAGGTTTACCTTTGTTTAA	0.443000														74			23		0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13663297	13663297	+	Silent	SNP	T	G	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:13663297T>G	uc011avc.2	+	8	2560	c.2178T>G	c.(2176-2178)ggT>ggG	p.G726G	FBLN2_uc011auz.2_Intron|FBLN2_uc011avb.2_Intron|FBLN2_uc011ava.2_Silent_p.G726G	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	726	EGF-like 3; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCCTGATGGGTGCTCACGATT	0.552000														43			16		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	383722	383722	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:383722G>A	uc003bot.3	+	6	1278	c.636G>A	c.(634-636)agG>agA	p.R212R	CHL1_uc003bou.3_Silent_p.R212R|CHL1_uc003bow.2_Silent_p.R212R|CHL1_uc011asi.2_Silent_p.R212R	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	212	Ig-like C2-type 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAAGATTAAGGACTATTGTAC	0.373000														19			14		0	0	1	0	0
EXT2	2132	broad.mit.edu	37	11	44130751	44130751	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:44130751C>T	uc001mya.3	+	2	699	c.643C>T	c.(643-645)Cga>Tga	p.R215*	EXT2_uc010rfo.2_Nonsense_Mutation_p.R210*|EXT2_uc009ykt.3_Nonsense_Mutation_p.R182*|EXT2_uc001mxz.3_Nonsense_Mutation_p.R182*	NM_000401	NP_000392	Q93063	EXT2_HUMAN	Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA.	182					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CAGGTGGGATCGAGGTACGAA	0.443000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses					35			15		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447409	226447409	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:226447409C>T	uc002voe.2	+	3	1451	c.1276C>T	c.(1276-1278)Ccc>Tcc	p.P426S	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.P196S	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	426	Pro-rich.																AACCCAGTCTCCCCATGGCTA	0.662000														13			6		0	0	1	0	0
CHRDL2	25884	broad.mit.edu	37	11	74415687	74415687	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:74415687C>T	uc001ovh.3	-	6	848	c.595G>A	c.(595-597)Gat>Aat	p.D199N	CHRDL2_uc001ovg.3_Missense_Mutation_p.D83N|CHRDL2_uc001ovi.3_Missense_Mutation_p.D199N|CHRDL2_uc001ovj.1_Non-coding_Transcript|CHRDL2_uc001ovk.1_Missense_Mutation_p.D199N	NM_015424	NP_056239	Q6WN34	CRDL2_HUMAN	Homo sapiens chordin-like 2 (CHRDL2), mRNA.	199					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GAACATGGATCCTGAGGATGT	0.597000														21			9		0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15704571	15704571	+	Missense_Mutation	SNP	A	C	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:15704571A>C	uc001rcv.2	+	14	2994	c.2524A>C	c.(2524-2526)Att>Ctt	p.I842L	PTPRO_uc001rcw.2_Missense_Mutation_p.I842L|PTPRO_uc001rcx.2_Missense_Mutation_p.I31L|PTPRO_uc001rcy.2_Missense_Mutation_p.I31L|PTPRO_uc001rcz.2_Missense_Mutation_p.I31L|PTPRO_uc001rda.2_Missense_Mutation_p.I31L	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	842						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TGTTACCCTCATTATTCTTAG	0.348000														43			25		0	0	1	0	0
TMEM225	338661	broad.mit.edu	37	11	123755222	123755222	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:123755222G>A	uc001pzi.3	-	1	511	c.303C>T	c.(301-303)ttC>ttT	p.F101F		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	Homo sapiens transmembrane protein 225 (TMEM225), mRNA.	101						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GGATGGTAGTGAAGAGTTGTA	0.428000														30			14		0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170846538	170846538	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:170846538G>A	uc003fhh.2	-	15	2083	c.1738C>T	c.(1738-1740)Cga>Tga	p.R580*	TNIK_uc003fhi.2_Intron|TNIK_uc003fhj.2_Nonsense_Mutation_p.R551*|TNIK_uc003fhk.2_Nonsense_Mutation_p.R580*|TNIK_uc003fhl.2_Intron|TNIK_uc003fhm.2_Intron|TNIK_uc003fhn.2_Nonsense_Mutation_p.R551*|TNIK_uc003fho.2_Intron	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	580	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R580L(1)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GGGGGTGTTCGAGCAGGCTGA	0.517000														18			9		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182360139	182360139	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:182360139C>T	uc002unu.3	+	12	2144	c.1381C>T	c.(1381-1383)Cta>Tta	p.L461L		NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	461					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGCTGTCTTGCTAAGGTAAGA	0.353000														60			14		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527773	23527773	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:23527773C>T	uc003jgo.3	+	10	2758	c.2576C>T	c.(2575-2577)cCc>cTc	p.P859L		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	859					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.K858M(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGGAGAAGCCCTACGTCTGC	0.597000										HNSCC(3;0.000094)				81			38		0	0	1	0	0
ANKK1	255239	broad.mit.edu	37	11	113270063	113270063	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:113270063G>A	uc001pny.3	+	7	1466	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	Homo sapiens ankyrin repeat and kinase domain containing 1 (ANKK1), mRNA.	458							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GGATGCCCAGGAACGTGAAGG	0.617000														3			6		0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102808507	102808507	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:102808507G>A	uc002tbs.3	+	3	542	c.416G>A	c.(415-417)gGa>gAa	p.G139E	IL1RL2_uc002tbt.3_Intron	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	139	Ig-like C2-type 2.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TTACATCTTGGAAAAGATGAT	0.328000														46			16		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152708437	152708437	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:152708437C>T	uc021zhb.1	-	51	8480	c.8257G>A	c.(8257-8259)Gat>Aat	p.D2753N	SYNE1_uc003qot.4_Missense_Mutation_p.D2760N|SYNE1_uc003qou.4_Missense_Mutation_p.D2753N|SYNE1_uc010kjb.1_Missense_Mutation_p.D2736N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2753					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTTTTTGATCCACTGATTCC	0.433000										HNSCC(10;0.0054)				44			19		0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123798232	123798232	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:123798232G>A	uc010tap.2	-	22	3155	c.3155C>T	c.(3154-3156)tCc>tTc	p.S1052F	SBNO1_uc010tao.2_Missense_Mutation_p.S1051F|SBNO1_uc010taq.2_Missense_Mutation_p.S3F|SBNO1_uc001ues.1_Missense_Mutation_p.S3F	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	1052							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GTTTACAATGGATTTCATGAC	0.333000														18			4		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124988150	124988150	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:124988150C>T	uc003yqw.3	+	8	902	c.696C>T	c.(694-696)atC>atT	p.I232I		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	232	C2 2.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACCTTTTGATCCCCAATGGGT	0.438000														74			69		0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35546521	35546521	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:35546521G>A	uc003zww.3	+	1	258	c.3G>A	c.(1-3)atG>atA	p.M1I	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.M1I	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	1						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TTTCCAGAATGGATAGTCCCC	0.567000														57			27		0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50535125	50535125	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:50535125G>A	uc001zxz.3	-	11	1663	c.1321C>T	c.(1321-1323)Cag>Tag	p.Q441*	HDC_uc001zxy.3_Nonsense_Mutation_p.Q184*|HDC_uc010uff.2_Nonsense_Mutation_p.Q408*	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	441					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	AACTTGTCCTGGATAGTGGCC	0.443000														22			11		0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55177374	55177374	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:55177374G>A	uc002qgp.3	+	6	1228	c.866G>A	c.(865-867)aGg>aAg	p.R289K	LILRB4_uc002qgq.3_Missense_Mutation_p.R289K|LILRB4_uc010ert.3_Missense_Mutation_p.R330K|LILRB4_uc010eru.3_Missense_Mutation_p.R318K	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	289						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GGAAAACACAGGACATTGGGT	0.572000														47			18		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10215368	10215368	+	Missense_Mutation	SNP	A	G	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:10215368A>G	uc002gmk.1	-	31	4481	c.4391T>C	c.(4390-4392)cTg>cCg	p.L1464P		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1464					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCTTTCGTCCAGCTTTTGCTT	0.527000														26			14		0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150692297	150692297	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:150692297G>A	uc003wif.3	+	2	461	c.165G>A	c.(163-165)ccG>ccA	p.P55P	NOS3_uc011kuy.2_5'UTR|NOS3_uc011kva.2_Silent_p.P55P|NOS3_uc011kuz.2_Silent_p.P55P|NOS3_uc011kvb.2_Silent_p.P55P	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	55					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	ACAGCCCCCCGAGCTCCCCGC	0.632000														16			9		0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187003965	187003965	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:187003965C>T	uc003iyq.3	+	3	1226	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	TLR3_uc011ckz.2_Silent_p.F98F|TLR3_uc003iyr.3_Silent_p.F98F	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	375					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		GCAATATGTTCACAGGATTGA	0.353000														19			8		0	0	1	0	0
TNFAIP8	25816	broad.mit.edu	37	5	118728851	118728851	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:118728851C>T	uc003ksi.3	+	1	562	c.372C>T	c.(370-372)gaC>gaT	p.D124D	TNFAIP8_uc003ksf.1_3'UTR|TNFAIP8_uc003ksg.3_Silent_p.D114D|TNFAIP8_uc011cwf.2_Silent_p.D118D	NM_014350	NP_055165	O95379	TFIP8_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8 (TNFAIP8), transcript variant 1, mRNA.	124					anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		ATACCTTTGACCGGAATGTGT	0.428000														32			15		0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8808018	8808018	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:8808018G>A	uc002mkl.2	-	0	1155	c.1034C>T	c.(1033-1035)tCg>tTg	p.S345L		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	345						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GGTGAAGAGCGAGGACCCACC	0.657000														49			9		0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142186843	142186843	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:142186843G>A	uc003eux.4	-	38	6742	c.6620C>T	c.(6619-6621)tCc>tTc	p.S2207F	ATR_uc003euy.1_Missense_Mutation_p.S93F	NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	2207					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CTTCTCTAAGGATTTTTTCAT	0.333000								Other conserved DNA damage response genes						39			11		0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44250052	44250052	+	Missense_Mutation	SNP	A	C	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:44250052A>C	uc003oxi.2	-	3	1247	c.1091T>G	c.(1090-1092)cTc>cGc	p.L364R	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	364										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAGGGAAATGAGGTTGGTGTT	0.612000														156			41		0	0	1	0	0
THPO	7066	broad.mit.edu	37	3	184090868	184090868	+	Silent	SNP	A	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:184090868A>T	uc003fol.1	-	5	710	c.495T>A	c.(493-495)ctT>ctA	p.L165L	THPO_uc003fom.2_Silent_p.L161L|THPO_uc021xii.1_Missense_Mutation_p.C160S|THPO_uc003fon.3_Intron|THPO_uc011bro.2_Intron|THPO_uc003fop.3_Intron|THPO_uc011brp.2_Intron|THPO_uc011brq.2_Intron|THPO_uc003for.1_Intron|THPO_uc003fos.1_Intron	NM_000460	NP_000451	P40225	TPO_HUMAN	Homo sapiens thrombopoietin (THPO), transcript variant 1, mRNA.	165					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACCCTCCTACAAGCATCAGGA	0.592000														41			34		0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110740721	110740721	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:110740721C>T	uc009wfq.3	+	11	2300	c.1839C>T	c.(1837-1839)ttC>ttT	p.F613F		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	613					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		ACCTGTATTTCCCCAACTGGG	0.652000														15			23		0	0	1	0	0
CXorf21	80231	broad.mit.edu	37	X	30578046	30578046	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:30578046C>T	uc022bui.1	-	0	427	c.427G>A	c.(427-429)Gat>Aat	p.D143N	CXorf21_uc004dcg.2_Missense_Mutation_p.D143N	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN	Homo sapiens chromosome X open reading frame 21 (CXorf21), mRNA.	143										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						GAGGGAAAATCTGTTGTCACT	0.428000														7			19		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55119419	55119419	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:55119419G>A	uc010ooe.1	+	2	1144	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc001cxo.2_Missense_Mutation_p.E274K|HEATR8_uc010ooc.1_Intron|HEATR8_uc010ood.1_Intron|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.E274K|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	274	Ser-rich.					integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAGTTCAAAGGAAACCATGAA	0.478000														18			38		0	0	1	0	0
AK310441	0	broad.mit.edu	37	1	148882316	148882316	+	RNA	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:148882316G>A	uc009wkv.1	+	3		c.345G>A								Homo sapiens cDNA, FLJ17483.																		AGTGTGGTCAGTGTTACCATC	0.353000														101			11		0	0	1	0	0
CHST3	9469	broad.mit.edu	37	10	73767602	73767602	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:73767602C>T	uc001jsn.3	+	2	1253	c.813C>T	c.(811-813)gcC>gcT	p.A271A	ANAPC16_uc021psn.1_Intron	NM_004273	NP_004264	Q7LGC8	CHST3_HUMAN	Homo sapiens carbohydrate (chondroitin 6) sulfotransferase 3 (CHST3), mRNA.	271					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity			endometrium(1)|lung(5)	6						AGCACATGGCCCTCAAGGCGG	0.697000														11			5		0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70048697	70048697	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:70048697G>A	uc001svg.3	-	9	2224	c.1997C>T	c.(1996-1998)tCa>tTa	p.S666L	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Missense_Mutation_p.S453L|BEST3_uc010stm.2_Missense_Mutation_p.S560L	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	666						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TCATTTGGGTGATTCCTCAGT	0.468000														23			10		0	0	1	0	0
RASL12	51285	broad.mit.edu	37	15	65347555	65347555	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:65347555G>A	uc002aoi.1	-	4	698	c.483C>T	c.(481-483)ttC>ttT	p.F161F	RASL12_uc002aoj.1_Silent_p.F142F|RASL12_uc010uir.1_Silent_p.F150F	NM_016563	NP_057647	Q9NYN1	RASLC_HUMAN	Homo sapiens RAS-like, family 12 (RASL12), mRNA.	161					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						CAGAGACCTCGAAAAACAGGC	0.617000														9			7		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117631285	117631285	+	Missense_Mutation	SNP	T	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:117631285T>A	uc003pxp.1	-	39	6592	c.6393A>T	c.(6391-6393)gaA>gaT	p.E2131D	ROS1_uc011ebi.1_Non-coding_Transcript	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2131	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCATCAAACTTTCTGGAGCCA	0.423000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									77			41		0	0	1	0	0
SUN3	256979	broad.mit.edu	37	7	48068433	48068433	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:48068433C>T	uc003tof.3	-	1	200	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	SUN3_uc003tog.3_Missense_Mutation_p.E35K|SUN3_uc011kcf.2_5'UTR	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 3 (SUN3), transcript variant 2, mRNA.	35						integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCAGGATTTTCGTCCTCTGAT	0.458000														60			26		0	0	1	0	0
GIGYF1	64599	broad.mit.edu	37	7	100281204	100281204	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:100281204G>A	uc003uwg.1	-	16	3030	c.2021C>T	c.(2020-2022)cCa>cTa	p.P674L		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	674										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTCTAGAATTGGACCCTGAGT	0.617000														135			45		0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90718362	90718362	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:90718362C>T	uc011eab.2	-	5	1076	c.202G>A	c.(202-204)Gga>Aga	p.G68R	BACH2_uc003pnw.3_Missense_Mutation_p.G68R|BACH2_uc010kch.3_Missense_Mutation_p.G68R	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	68	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TTTGTCTGTCCAACCAGCGCC	0.468000														54			28		0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790698	4790698	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:4790698C>T	uc010qyl.2	-	0	450	c.450G>A	c.(448-450)atG>atA	p.M150I		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	150						integral to membrane	olfactory receptor activity	p.M150L(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CACGTGTAATCATCAGAAGAC	0.423000														39			21		0	0	1	0	0
VPS35	55737	broad.mit.edu	37	16	46705721	46705721	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:46705721G>A	uc002eef.4	-	11	1519	c.1420C>T	c.(1420-1422)Caa>Taa	p.Q474*	VPS35_uc002eed.3_Nonsense_Mutation_p.Q295*|VPS35_uc002eee.3_Nonsense_Mutation_p.Q435*	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	Homo sapiens vacuolar protein sorting 35 homolog (S. cerevisiae) (VPS35), mRNA.	474					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCTACAGGTTGATCTGGCTGA	0.488000														17			15		0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98846596	98846596	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:98846596C>T	uc002syo.3	+	15	2498	c.2234C>T	c.(2233-2235)tCa>tTa	p.S745L	VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Missense_Mutation_p.S264L|VWA3B_uc002sym.3_Missense_Mutation_p.S745L|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.S402L|VWA3B_uc002syp.1_Missense_Mutation_p.S137L|VWA3B_uc002syq.1_Missense_Mutation_p.S21L|VWA3B_uc002syr.1_Missense_Mutation_p.S62L	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	745								p.S745L(2)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ACACAAACTTCATCTCTGAAT	0.393000														30			9		0	0	1	0	0
OR1G1	8390	broad.mit.edu	37	17	3030057	3030057	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:3030057G>A	uc002fvc.1	-	0	789	c.789C>T	c.(787-789)ccC>ccT	p.P263P		NM_003555	NP_003546	P47890	OR1G1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						AGTGGGTTGAGGGAGAACTGA	0.478000														16			10		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102045065	102045065	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:102045065G>A	uc001tii.3	+	13	1485	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K	MYBPC1_uc001tif.2_Missense_Mutation_p.E462K|MYBPC1_uc001tig.3_Missense_Mutation_p.E474K|MYBPC1_uc010svr.2_Missense_Mutation_p.E449K|MYBPC1_uc010svs.2_Missense_Mutation_p.E449K|MYBPC1_uc001tij.3_Missense_Mutation_p.E449K|MYBPC1_uc010svt.2_Missense_Mutation_p.E437K|MYBPC1_uc010svu.2_Missense_Mutation_p.E430K|MYBPC1_uc001tik.3_Missense_Mutation_p.E423K|MYBPC1_uc001tih.3_Missense_Mutation_p.E474K|MYBPC1_uc010svq.2_Missense_Mutation_p.E436K	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	449	Ig-like C2-type 4.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TCTTGGAAAAGAAATCTGCCT	0.418000														85			22		0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36294431	36294431	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:36294431T>C	uc003oly.3	-	4	1070	c.892A>G	c.(892-894)Aag>Gag	p.K298E		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	298										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGGTTTGTCTTTGAGGTTCTC	0.567000														131			95		0	0	1	0	0
STXBP4	252983	broad.mit.edu	37	17	53156080	53156081	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:53156080_53156081CC>TT	uc002iuf.1	+	14	1546_1547	c.1339_1340CC>TT	c.(1339-1341)cct>TTt	p.P447F	STXBP4_uc010dcd.1_Missense_Mutation_p.P425F	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	Homo sapiens syntaxin binding protein 4 (STXBP4), mRNA.	447						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TAATTCTACTCCTTTATCAAAT	0.287000														31			6		0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81746402	81746402	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:81746402G>A	uc003uhr.1	-	5	740	c.484C>T	c.(484-486)Cag>Tag	p.Q162*		NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	162						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GCTGCGTGCTGATAAGATATT	0.393000														41			13		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73676891	73676891	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:73676891C>T	uc002sje.1	+	7	3345	c.3234C>T	c.(3232-3234)ttC>ttT	p.F1078F	ALMS1_uc002sjf.1_Silent_p.F1036F|ALMS1_uc002sjg.3_Silent_p.F466F|ALMS1_uc002sjh.1_Silent_p.F466F	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	1078	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTTCAGCCTTCCCTGGACCAG	0.478000														95			37		0	0	1	0	0
RHBDF2	79651	broad.mit.edu	37	17	74477506	74477506	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:74477506G>A	uc002jrq.2	-	2	395	c.101C>T	c.(100-102)cCc>cTc	p.P34L	RHBDF2_uc021udh.1_Missense_Mutation_p.P34L|RHBDF2_uc002jrr.1_5'UTR|RHBDF2_uc010wtf.1_Missense_Mutation_p.P34L|RHBDF2_uc002jrs.1_Missense_Mutation_p.P34L	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN	Homo sapiens rhomboid 5 homolog 2 (Drosophila) (RHBDF2), transcript variant 1, mRNA.	34					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						CTCTTTCTCGGGTGGCGGGAT	0.632000														45			38		0	0	1	0	0
RARS2	57038	broad.mit.edu	37	6	88255417	88255417	+	Splice_Site	SNP	C	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:88255417C>A	uc003pme.3	-	7	512	c.452_splice	c.e7-1	p.G151_splice	RARS2_uc003pmc.3_Splice_Site|RARS2_uc003pmf.3_Splice_Site	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	Homo sapiens arginyl-tRNA synthetase 2, mitochondrial (RARS2), nuclear gene encoding mitochondrial protein, mRNA.	151					arginyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|arginine-tRNA ligase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		TATAAAATTTCCTAGTAATCA	0.299000														39			13		0.000151284	0.000151887	1	1	0
EPHA3	2042	broad.mit.edu	37	3	89498444	89498444	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:89498444G>A	uc003dqy.3	+	13	2641	c.2416G>A	c.(2416-2418)Gat>Aat	p.D806N	EPHA3_uc021xbf.1_Missense_Mutation_p.D806N	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	806	Protein kinase.		D -> N (in a colorectal cancer sample; somatic mutation).			extracellular region|integral to plasma membrane	ATP binding	p.D806N(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTCAGCCAGCGATGTATGGAG	0.443000										TSP Lung(6;0.00050)				88			38		0	0	1	0	0
AK302879	0	broad.mit.edu	37	15	76075543	76075544	+	Splice_Site	DNP	GG	AA	AA			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:76075543_76075544GG>AA	uc010umm.1	+	10	1184	c.1107_splice	c.e10+1		DNM1P35_uc021sqp.1_Intron|DQ582939_uc002bba.1_5'Flank|DQ582208_uc021sqs.1_5'Flank					SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;																		agaggctgtgggaccaggagga	0.594000														158			68		0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37902191	37902191	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:37902191C>T	uc002hsr.3	+	12	1571	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F	GRB7_uc002hss.3_Silent_p.F432F|GRB7_uc021twu.1_Silent_p.F455F|GRB7_uc010cwc.3_Silent_p.F432F|GRB7_uc002hst.3_Intron	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	432	SH2.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AACTCTGGTTCCACGGGCGCA	0.612000														190			65		0	0	1	0	0
NDN	4692	broad.mit.edu	37	15	23931501	23931501	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:23931501C>T	uc001ywk.3	-	0	950	c.864G>A	c.(862-864)caG>caA	p.Q288Q		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	288	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AGGGCCAGGCCTGGGGGTCTT	0.597000									Prader-Willi syndrome					35			9		0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166905848	166905848	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:166905848G>A	uc001gdx.2	-	4	739	c.683C>T	c.(682-684)tCc>tTc	p.S228F		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	228	Cys-rich.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GCAGCAGCAGGAATCTGGGCA	0.602000														32			9		0	0	1	0	0
WBSCR28	135886	broad.mit.edu	37	7	73279336	73279336	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:73279336G>A	uc003tzk.2	+	1	122	c.86G>A	c.(85-87)cGa>cAa	p.R29Q	WBSCR28_uc003tzl.2_5'UTR	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 28 (WBSCR28), mRNA.	29						integral to membrane		p.R29I(2)		breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				GTTCAGAACCGAGATCACCTC	0.512000														323			141		0	0	1	0	0
GPR26	2849	broad.mit.edu	37	10	125434439	125434439	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:125434439G>A	uc001lhh.3	+	1	827	c.774G>A	c.(772-774)gtG>gtA	p.V258V		NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN	Homo sapiens G protein-coupled receptor 26 (GPR26), mRNA.	258					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CGCCCTATGTGATCACCAGGT	0.577000														6			5		0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74332991	74332991	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:74332991G>A	uc011lsa.1	-	12	2812	c.2272C>T	c.(2272-2274)Cga>Tga	p.R758*	TMEM2_uc010mos.2_Nonsense_Mutation_p.R695*|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	758						integral to membrane		p.R758*(2)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TGATGAGGTCGAAATCTAGGG	0.338000														39			22		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31422665	31422665	+	Missense_Mutation	SNP	G	A	A	rs143276012		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:31422665G>A	uc010cap.1	+	13	1586	c.1537G>A	c.(1537-1539)Gag>Aag	p.E513K	ITGAD_uc002ebv.1_Missense_Mutation_p.E512K	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	512					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCTCCGTGGTGAGCAGGGCCA	0.632000														137			56		0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35930377	35930377	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:35930377G>A	uc003olm.3	-	11	1498	c.1387C>T	c.(1387-1389)Ctg>Ttg	p.L463L	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Silent_p.L45L|SLC26A8_uc003oll.3_Silent_p.L358L|SLC26A8_uc003oln.3_Silent_p.L463L	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	463					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						ACGTTGCTCAGAATAATACCA	0.468000														91			24		0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106968689	106968689	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:106968689C>T	uc003prh.3	+	1	3294	c.2382C>T	c.(2380-2382)tcC>tcT	p.S794S		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	794							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)		TCTTCAAGTCCCTGCACACCA	0.473000														19			5		0	0	1	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33680544	33680544	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:33680544C>T	uc002xbk.3	-	0	75	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	TRPC4AP_uc010zur.2_Missense_Mutation_p.R14Q|TRPC4AP_uc002xbl.3_Missense_Mutation_p.R14Q|TRPC4AP_uc002xbm.1_Missense_Mutation_p.R14Q|TRPC4AP_uc021wci.1_Missense_Mutation_p.R14Q	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 associated protein (TRPC4AP), transcript variant 1, mRNA.	14	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CCGTCTCCCTCGGCCGGCTCC	0.721000														10			9		0	0	1	0	0
NMT1	4836	broad.mit.edu	37	17	43171113	43171113	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:43171113C>T	uc002ihz.3	+	3	464	c.446C>T	c.(445-447)cCc>cTc	p.P149L		NM_021079	NP_066565	P30419	NMT1_HUMAN	Homo sapiens N-myristoyltransferase 1 (NMT1), mRNA.	149					N-terminal protein myristoylation|activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				CGCCAGGAGCCCTACACCCTG	0.617000														26			16		0	0	1	0	0
DYNLRB2	83657	broad.mit.edu	37	16	80583506	80583506	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:80583506C>T	uc002ffo.3	+	2	325	c.205C>T	c.(205-207)Ctt>Ttt	p.L69F	DYNLRB2_uc002ffp.3_Non-coding_Transcript|DYNLRB2_uc002ffq.3_Non-coding_Transcript	NM_130897	NP_570967	Q8TF09	DLRB2_HUMAN	Homo sapiens dynein, light chain, roadblock-type 2 (DYNLRB2), mRNA.	69					microtubule-based movement|transport	cytoplasmic dynein complex|microtubule	microtubule motor activity			large_intestine(1)|lung(4)|prostate(1)	6						CCTGACTTTTCTTAGGATCAG	0.373000														47			13		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121976060	121976060	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:121976060G>A	uc003eew.4	+	2	756	c.318G>A	c.(316-318)aaG>aaA	p.K106K	CASR_uc003eev.4_Silent_p.K106K	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	106					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCGTTTCTAAGGCCTTGGAAG	0.448000														69			41		0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41518614	41518614	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:41518614C>T	uc002opr.1	+	7	1195	c.1188C>T	c.(1186-1188)ctC>ctT	p.L396L	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Silent_p.L196L	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	396					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GCACTGCTCTCCATGACCCAC	0.468000														106			50		0	0	1	0	0
TFAP2A	7020	broad.mit.edu	37	6	10410363	10410363	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:10410363G>A	uc003myr.3	-	1	503	c.251C>T	c.(250-252)cCc>cTc	p.P84L	TFAP2A_uc003myq.3_Missense_Mutation_p.P78L|TFAP2A_uc003mys.3_Non-coding_Transcript|TFAP2A_uc011dih.2_Missense_Mutation_p.P84L|TFAP2A_uc003myt.3_Missense_Mutation_p.P80L|TFAP2A_uc003myu.1_Missense_Mutation_p.P84L|TFAP2A_uc011dii.1_Missense_Mutation_p.P80L|LOC100130275_uc003myw.3_5'Flank	NM_003220	NP_003211	P05549	AP2A_HUMAN	Homo sapiens transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) (TFAP2A), transcript variant 1, mRNA.	84	Gln/Pro-rich (transactivation domain).				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Golgi apparatus|centrosome|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GGCGTGCAGGGGGTTCAGGCT	0.682000														114			39		0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20665555	20665555	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:20665555C>T	uc010tlb.2	+	0	61	c.61C>T	c.(61-63)Cgt>Tgt	p.R21C		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ATGTTTGCACCGTCATTCAGT	0.363000														15			7		0	0	1	0	0
SHB	6461	broad.mit.edu	37	9	37974631	37974631	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:37974631G>A	uc004aax.3	-	2	1610	c.1042C>T	c.(1042-1044)Cca>Tca	p.P348S		NM_003028	NP_003019	Q15464	SHB_HUMAN	Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA.	348	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		GCCAGGGCTGGGATGGTGACC	0.657000														63			37		0	0	1	0	0
DBN1	1627	broad.mit.edu	37	5	176885602	176885602	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:176885602G>A	uc003mgx.2	-	12	1521	c.1239C>T	c.(1237-1239)ccC>ccT	p.P413P	DBN1_uc011dga.1_Silent_p.P143P|DBN1_uc003mgy.2_Silent_p.P411P|DBN1_uc010jkn.1_Silent_p.P361P|DBN1_uc003mgz.1_Silent_p.P394P	NM_080881	NP_543157	Q16643	DREB_HUMAN	Homo sapiens drebrin 1 (DBN1), transcript variant 2, mRNA.	411					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGCCCCCGGGGAGGCGCCT	0.692000														24			6		0	0	1	0	0
SSR1	6745	broad.mit.edu	37	6	7301800	7301800	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:7301800G>A	uc003mxf.4	-	3	474	c.286C>T	c.(286-288)Cca>Tca	p.P96S		NM_003144	NP_003135	P43307	SSRA_HUMAN	Homo sapiens signal sequence receptor, alpha (SSR1), mRNA.	96					cotranslational protein targeting to membrane|positive regulation of cell proliferation	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1)	9	Ovarian(93;0.0398)					TTATTTGCTGGAAAATCTGAG	0.358000														63			14		0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307590	39307590	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:39307590G>A	uc021wwc.1	-	1	547	c.507C>T	c.(505-507)tcC>tcT	p.S169S	CX3CR1_uc021wwa.1_Silent_p.S137S|CX3CR1_uc021wwb.1_Silent_p.S137S|CX3CR1_uc003cjl.3_Silent_p.S137S|CX3CR1_uc021wwd.1_Silent_p.S137S	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	137					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GGTTGTTCATGGAGTTGGCGG	0.537000														61			19		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110530623	110530623	+	Missense_Mutation	SNP	A	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:110530623A>T	uc003yne.3	+	72	12021	c.11917A>T	c.(11917-11919)Atc>Ttc	p.I3973F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3973					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.P3973S(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAGTGACAAAATCCGTATCAG	0.373000										HNSCC(38;0.096)				68			19		0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26508766	26508767	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:26508766_26508767CC>TT	uc003nif.4	+	6	1002_1003	c.945_946CC>TT	c.(943-948)cacctc>caTTtc	p.L316F		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	316	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						CTCATCCCCACCTCTTTCTTTA	0.465000														145			98		0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52942228	52942228	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:52942228G>A	uc002pzk.3	+	3	1621	c.1554G>A	c.(1552-1554)caG>caA	p.Q518Q	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Silent_p.Q505Q	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q518Q(1)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TCTTCCGTCAGAATTCACACC	0.423000														6			6		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19337658	19337658	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:19337658G>A	uc002nlz.3	+	6	1535	c.1436G>A	c.(1435-1437)aGa>aAa	p.R479K	NCAN_uc010ecc.1_Missense_Mutation_p.R43K	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	479					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			ATGCCTAGGAGAAGGGGGCGC	0.667000														37			10		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058873	152058873	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:152058873G>A	uc001ezo.1	-	2	1350	c.1285C>T	c.(1285-1287)Ctc>Ttc	p.L429F		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	429							calcium ion binding	p.E428K(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AATCCTTGGAGTTCCTGATAC	0.463000														108			28		0	0	1	0	0
TEKT2	27285	broad.mit.edu	37	1	36552345	36552345	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:36552345C>T	uc001bzr.3	+	4	656	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	TEKT2_uc001bzs.3_Missense_Mutation_p.R83W|ADPRHL2_uc001bzt.3_5'Flank	NM_014466	NP_055281	Q9UIF3	TEKT2_HUMAN	Homo sapiens tektin 2 (testicular) (TEKT2), mRNA.	177					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTCCGACCATCGGGGCAAAAT	0.572000														29			57		0	0	1	0	0
TAGLN3	29114	broad.mit.edu	37	3	111730611	111730611	+	Splice_Site	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:111730611G>A	uc003dym.3	+	4	734	c.356_splice	c.e4-1	p.G119_splice	TAGLN3_uc003dyl.3_Splice_Site_p.G119_splice|TAGLN3_uc003dyn.3_Splice_Site_p.G119_splice|TAGLN3_uc003dyo.3_Splice_Site_p.G119_splice	NM_001008272	NP_037391	Q9UI15	TAGL3_HUMAN	Homo sapiens transgelin 3 (TAGLN3), transcript variant 2, mRNA.	119	CH.				central nervous system development|muscle organ development					endometrium(2)|lung(5)|urinary_tract(1)	8						GGCTTCCAGGGAAGGACATGG	0.547000														22			14		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8610589	8610589	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:8610589G>A	uc002mkg.3	-	12	1439	c.1301C>T	c.(1300-1302)aCt>aTt	p.T434I		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	434	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CTGGATTGGAGTCCAGCGGAT	0.577000														164			80		0	0	1	0	0
IFNA6	3443	broad.mit.edu	37	9	21350856	21350856	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:21350856G>A	uc011lni.2	-	0	31	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L		NM_021002	NP_066282	P05013	IFNA6_HUMAN	Homo sapiens interferon, alpha 6 (IFNA6), mRNA.	11					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		AGCACCACCAGGGCCATCAGT	0.522000														20			19		0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51958704	51958704	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:51958704G>A	uc002pwt.3	-	3	1086	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	SIGLEC8_uc010yda.2_Missense_Mutation_p.S231F|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.S247F	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	340	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	p.S340S(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GAGGCTCAGGGAAATGTGCTG	0.627000														26			12		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190067595	190067595	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:190067595C>T	uc001gse.1	-	7	2086	c.1854G>A	c.(1852-1854)tgG>tgA	p.W618*	FAM5C_uc010pot.1_Nonsense_Mutation_p.W516*	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	618						extracellular region		p.W618C(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AAAATGTCTTCCATTTGTTCC	0.433000														174			136		0	0	1	0	0
ISG20L2	81875	broad.mit.edu	37	1	156697217	156697217	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:156697217G>A	uc001fps.1	-	0	489	c.228C>T	c.(226-228)ttC>ttT	p.F76F	ISG20L2_uc001fpt.1_Silent_p.F76F|RRNAD1_uc001fpu.3_5'Flank|RRNAD1_uc001fpv.3_5'Flank	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN	Homo sapiens interferon stimulated exonuclease gene 20kDa-like 2 (ISG20L2), mRNA.	76					ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTTTTTTGGGAAGGAAGGGG	0.522000											OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		77			17		0	0	1	0	0
IL36RN	26525	broad.mit.edu	37	2	113816990	113816990	+	Splice_Site	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:113816990G>A	uc002tis.3	+	2	107	c.-26_splice	c.e2-1		IL36RN_uc002tit.3_Splice_Site	NM_173170	NP_775262	Q9UBH0	I36RA_HUMAN	Homo sapiens interleukin 36 receptor antagonist (IL36RN), transcript variant 2, mRNA.							extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CCAAAATAGGGGAGTCTACAC	0.562000														28			11		0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148583291	148583291	+	Missense_Mutation	SNP	G	A	A	rs145828911		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:148583291G>A	uc003ewm.3	+	1	152	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K		NM_001870	NP_001861	P15088	CBPA3_HUMAN	Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA.	34					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	p.E34*(2)|p.E34K(2)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GCCCCAGGATGAAAAACAAGC	0.383000														33			11		0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159907540	159907540	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:159907540G>A	uc001fur.2	-	3	534	c.336C>T	c.(334-336)ttC>ttT	p.F112F	IGSF9_uc001fuq.2_Silent_p.F112F	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	112	Ig-like 1.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTGGTCCAGGAAGAACACGC	0.607000														52			38		0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68867355	68867355	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:68867355C>T	uc002ewg.1	+	15	2726	c.2602C>T	c.(2602-2604)Cgc>Tgc	p.R868C	CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_Missense_Mutation_p.R807C	NM_004360	NP_004351	P12830	CADH1_HUMAN	Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA.	868	Required for binding alpha, beta and gamma catenins.			R -> P (in Ref. 3; AAA61259).	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	Golgi apparatus|actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		ATGGGGCAATCGCTTCAAGAA	0.552000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer					62			21		0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55424204	55424204	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:55424204G>A	uc002qib.2	+	6	918	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	NCR1_uc002qic.2_Missense_Mutation_p.E293K|NCR1_uc002qie.2_Missense_Mutation_p.E277K|NCR1_uc002qid.2_Missense_Mutation_p.E199K|NCR1_uc002qif.2_Missense_Mutation_p.E182K|NCR1_uc010esj.2_Missense_Mutation_p.E187K	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	294					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	SWI/SNF complex|integral to plasma membrane	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		TTCCACTTGGGAAGGCAGGAG	0.557000														35			10		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76872114	76872114	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:76872114C>T	uc001oyb.2	+	11	1568	c.1296C>T	c.(1294-1296)tcC>tcT	p.S432S	MYO7A_uc010rsl.2_Silent_p.S432S|MYO7A_uc010rsm.1_Silent_p.S421S|MYO7A_uc001oyc.2_Silent_p.S432S	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	432	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTCGCAGGTCCATCGGCCTCC	0.522000														22			16		0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110710562	110710562	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:110710562C>T	uc003kpf.3	+	2	490	c.255C>T	c.(253-255)atC>atT	p.I85I	CAMK4_uc010jbv.3_Intron	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	85	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ACAAAAAAATCGTAAGAACTG	0.378000														19			10		0	0	1	0	0
NPTXR	23467	broad.mit.edu	37	22	39219262	39219262	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr22:39219262G>A	uc003awk.3	-	3	1258	c.1104C>T	c.(1102-1104)gcC>gcT	p.A368A		NM_014293	NP_055108	O95502	NPTXR_HUMAN	Homo sapiens neuronal pentraxin receptor (NPTXR), mRNA.	368	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					GGGGCAGCTGGGCCACCTGGA	0.662000														32			10		0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189022318	189022318	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:189022318G>A	uc011cle.1	-	2	594	c.372C>T	c.(370-372)ctC>ctT	p.L124L	TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc003izl.2_Silent_p.L74L|TRIML2_uc011clf.1_Silent_p.L124L	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	74							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GCTGTCTCTGGAGATTCTGCT	0.423000														29			15		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2910029	2910029	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:2910029C>T	uc022aqr.1	-	49	8005	c.7615G>A	c.(7615-7617)Gaa>Aaa	p.E2539K	CSMD1_uc011kwj.2_Missense_Mutation_p.E1869K|CSMD1_uc010lrg.3_Missense_Mutation_p.E608K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2540	Sushi 15.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AACCCATCTTCTTGACACACG	0.502000														9			5		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685672	100685672	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:100685672C>T	uc003uxp.1	+	2	11028	c.10975C>T	c.(10975-10977)Cct>Tct	p.P3659S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3659	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTCAACACTTCCTGTTGACAC	0.502000														101			47		0	0	1	0	0
RORA	6095	broad.mit.edu	37	15	60970872	60970872	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:60970872C>T	uc002agx.3	-	1	265	c.180G>A	c.(178-180)acG>acA	p.T60T		NM_134261	NP_599023	P35398	RORA_HUMAN	Homo sapiens RAR-related orphan receptor A (RORA), transcript variant 1, mRNA.	0	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GTGTCTTCTTCGTTACTGAGA	0.413000														45			15		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179474255	179474255	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:179474255C>T	uc021vsy.1	-	221	44303	c.44078G>A	c.(44077-44079)cGa>cAa	p.R14693Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R8388Q|TTN_uc021vta.1_Missense_Mutation_p.R8321Q|TTN_uc021vtb.1_Missense_Mutation_p.R8196Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15620	Ig-like 96.						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)			TTCATCACCTCGTTTCACTTC	0.348000														71			26		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125035765	125035765	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:125035765G>A	uc003yqw.3	+	17	2421	c.2215G>A	c.(2215-2217)Gac>Aac	p.D739N	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	739						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CGCCTCCAAAGACCTCCTCTA	0.507000														70			28		0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995780	57995780	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:57995780G>A	uc010rkd.2	-	0	611	c.568C>T	c.(568-570)Ctg>Ttg	p.L190L		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V189I(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GCCAGGCGCAGGACGGGAGGC	0.612000														21			23		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106866571	106866571	+	RNA	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:106866571C>T	uc021ser.1	-	432		c.13649G>A								Parts of antibodies, mostly variable regions.																		CCAGCCCCTTCCCTGGAGCCT	0.557000														100			33		0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50585517	50585517	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:50585517G>A	uc001wxs.4	-	22	3642	c.3544C>T	c.(3544-3546)Cct>Tct	p.P1182S	SOS2_uc010ans.3_Missense_Mutation_p.P17S|SOS2_uc010tql.2_Missense_Mutation_p.P1149S|METTL21D_uc001wxn.1_5'Flank|METTL21D_uc001wxp.1_5'Flank|METTL21D_uc001wxq.1_5'Flank|METTL21D_uc001wxo.1_5'Flank	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	1182	Poly-Pro.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					ACCTTTGGAGGAGGAGGCTGT	0.428000														22			9		0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	74005430	74005430	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:74005430G>A	uc003hgp.3	-	14	3020	c.2903C>T	c.(2902-2904)cCc>cTc	p.P968L	ANKRD17_uc003hgo.3_Missense_Mutation_p.P855L|ANKRD17_uc003hgq.3_Intron|ANKRD17_uc003hgr.3_Missense_Mutation_p.P968L|ANKRD17_uc011cbd.1_Missense_Mutation_p.P533L	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	968	Gln-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGGAGGCAAGGGACCTGCCGC	0.557000														31			7		0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135781200	135781200	+	Missense_Mutation	SNP	G	A	A	rs118203575		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:135781200G>A	uc004cca.2	-	14	1999	c.1765C>T	c.(1765-1767)Cca>Tca	p.P589S	TSC1_uc004ccb.3_Missense_Mutation_p.P588S|TSC1_uc011mcq.1_Missense_Mutation_p.P538S|TSC1_uc011mcr.2_Intron	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	589			CKIP -> S (in TSC1).		activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly	TSC1-TSC2 complex|cell cortex|lamellipodium|membrane	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GTCGGAGGTGGAATTTTACAA	0.537000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					27			13		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167056229	167056229	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:167056229G>A	uc010fpl.3	-	26	5228	c.4887C>T	c.(4885-4887)tcC>tcT	p.S1629S	BC051759_uc002udp.3_Non-coding_Transcript	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1640						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ACGCAGGAAGGGACATCATCA	0.498000														90			30		0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223396816	223396816	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:223396816C>T	uc001hnx.3	-	6	1853	c.1219G>A	c.(1219-1221)Gac>Aac	p.D407N	SUSD4_uc001hny.4_Missense_Mutation_p.D407N|SUSD4_uc010puw.2_Missense_Mutation_p.D247N	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	407						integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		CTCTGGTCGTCCACGGGTAAG	0.647000														22			17		0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891730	18891730	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:18891730C>T	uc001rdy.3	+	0	686	c.528C>T	c.(526-528)ttC>ttT	p.F176F	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	176					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AATGGATTTTCCAAGTTAACC	0.388000														38			10		0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166974561	166974561	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:166974561C>T	uc001gdy.1	+	7	843	c.772C>T	c.(772-774)Ctc>Ttc	p.L258F	MAEL_uc021peh.1_Missense_Mutation_p.L202F|MAEL_uc001gdz.1_Missense_Mutation_p.L227F|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	258					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACAAAAATTTCTCAAGGAGCC	0.398000														21			17		0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180366104	180366104	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:180366104T>C	uc010hxe.3	-	9	1326	c.1211A>G	c.(1210-1212)aAg>aGg	p.K404R	CCDC39_uc003fkn.3_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	404					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTGAGCTTTCTTAAACAGCAC	0.323000														53			29		0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863137	55863137	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:55863137C>T	uc010spn.2	-	0	786	c.786G>A	c.(784-786)gcG>gcA	p.A262A		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S261L(1)|p.A262V(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						CTCTTTCATTCGCTGATGGCT	0.388000														38			24		0	0	1	0	0
KCNMB4	27345	broad.mit.edu	37	12	70824403	70824403	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:70824403G>A	uc001svx.3	+	2	1056	c.603G>A	c.(601-603)gcG>gcA	p.A201A		NM_014505	NP_055320	Q86W47	KCMB4_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 4 (KCNMB4), mRNA.	201					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CGGTCAAGGCGGAAGCCATGA	0.547000														40			22		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137990556	137990556	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:137990556C>T	uc002tva.1	+	7	1910	c.1910C>T	c.(1909-1911)tCg>tTg	p.S637L	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.S527L	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGGGAGACATCGCCTTGGGGC	0.512000														39			18		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17449860	17449860	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:17449860G>A	uc001mnc.3	-	13	2142	c.2016C>T	c.(2014-2016)ggC>ggT	p.G672G		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	672					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TGTCAGCATCGCCATCTGCAC	0.652000														105			59		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167630771	167630771	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:167630771G>A	uc010jjd.3	+	17	3481	c.3481G>A	c.(3481-3483)Gag>Aag	p.E1161K	ODZ2_uc003lzr.4_Missense_Mutation_p.E938K|ODZ2_uc003lzt.4_Missense_Mutation_p.E534K|ODZ2_uc010jje.3_Missense_Mutation_p.E432K	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TCAGGGATTCGAGCTGGACCC	0.502000														95			44		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10419277	10419277	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:10419277G>A	uc002gmo.3	-	4	565	c.471C>T	c.(469-471)tcC>tcT	p.S157S	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	157	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGTCAGAGATGGAGAAGATGT	0.463000														106			47		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54936410	54936410	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:54936410C>T	uc001sgc.4	+	30	3404	c.3325C>T	c.(3325-3327)Cct>Tct	p.P1109S	NCKAP1L_uc010sox.2_Missense_Mutation_p.P651S|NCKAP1L_uc010soy.2_Missense_Mutation_p.P1059S	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	1109					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity	p.P1109P(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GTCCTGTTTCCCTTATGTCCT	0.542000														70			24		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43769914	43769914	+	Missense_Mutation	SNP	T	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:43769914T>A	uc010skx.2	-	34	5258	c.5258A>T	c.(5257-5259)gAa>gTa	p.E1753V		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1753	GON.					proteinaceous extracellular matrix	zinc ion binding	p.L1753F(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGTTAAATATTCCTTAGGGTT	0.338000														9			4		0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40321499	40321499	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:40321499T>C	uc002hzb.2	-	8	1919	c.1586A>G	c.(1585-1587)aAc>aGc	p.N529S		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	529					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGCTACCTCGTTGGCGTCGAT	0.637000														51			14		0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15995360	15995360	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:15995360G>A	uc002gpo.3	-	21	3102	c.2833C>T	c.(2833-2835)Cca>Tca	p.P945S	NCOR1_uc002gpn.3_Missense_Mutation_p.P961S|NCOR1_uc002gpp.1_Missense_Mutation_p.P852S|NCOR1_uc002gpq.1_5'UTR|NCOR1_uc002gpr.3_Missense_Mutation_p.P852S	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	945					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ATGTTACATGGGGTGCAGGAT	0.423000														49			17		0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110587401	110587401	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:110587401C>T	uc010mcp.3	-	7	2088	c.1726G>A	c.(1726-1728)Gag>Aag	p.E576K	SYBU_uc003yni.4_Missense_Mutation_p.E573K|SYBU_uc003ynk.4_Missense_Mutation_p.E457K|SYBU_uc003ynj.4_Missense_Mutation_p.E576K|SYBU_uc010mco.3_Missense_Mutation_p.E575K|SYBU_uc003ynl.4_Missense_Mutation_p.E575K|SYBU_uc010mcq.3_Missense_Mutation_p.E576K|SYBU_uc003yno.4_Missense_Mutation_p.E457K|SYBU_uc010mcr.3_Missense_Mutation_p.E576K|SYBU_uc003ynm.4_Missense_Mutation_p.E575K|SYBU_uc003ynn.4_Missense_Mutation_p.E575K|SYBU_uc010mcs.3_Missense_Mutation_p.E457K|SYBU_uc010mct.3_Missense_Mutation_p.E576K|SYBU_uc010mcu.3_Missense_Mutation_p.E575K|SYBU_uc003ynp.4_Missense_Mutation_p.E508K|SYBU_uc010mcv.3_Missense_Mutation_p.E576K|SYBU_uc003ynh.4_Missense_Mutation_p.E370K|SYBU_uc011lhw.2_Missense_Mutation_p.E446K	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	576						Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						AAATCCAGCTCTCTCATGAGG	0.552000														58			23		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55363717	55363717	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:55363717C>T	uc002qho.4	+	2	368	c.335C>T	c.(334-336)cCc>cTc	p.P112L	KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc002qhn.1_Intron|KIR3DL2_uc010esh.3_Missense_Mutation_p.P112L	NM_006737	NP_006728	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 (KIR3DL2), transcript variant 1, mRNA.	112					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CCCAGCAACCCCCTGGTGATC	0.607000														43			22		0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70723360	70723360	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:70723360C>T	uc003heo.3	-	1	116	c.3G>A	c.(1-3)atG>atA	p.M1I	SULT1E1_uc010ihv.1_Missense_Mutation_p.M1I	NM_005420	NP_005411	P49888	ST1E1_HUMAN	Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA.	1					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GTTCAGAATTCATTGTGGTAC	0.328000														33			12		0	0	1	0	0
CRAT	1384	broad.mit.edu	37	9	131864772	131864772	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:131864772G>A	uc004bxh.3	-	4	819	c.537C>T	c.(535-537)tcC>tcT	p.S179S	CRAT_uc004bxk.4_Silent_p.S158S	NM_000755	NP_000746	P43155	CACP_HUMAN	Homo sapiens carnitine O-acetyltransferase (CRAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	179					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GCACTCGGCAGGAGGACAAGA	0.602000														230			88		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26315398	26315398	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:26315398T>C	uc001isn.2	+	9	1250	c.890T>C	c.(889-891)cTa>cCa	p.L297P	MYO3A_uc009xko.1_Missense_Mutation_p.L297P|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.L297P	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	297					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GATGTGATGCTACAAAAACAA	0.383000														10			7		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37431195	37431195	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:37431195C>T	uc021ppc.1	+	6	1301	c.1202C>T	c.(1201-1203)tCa>tTa	p.S401L	ANKRD30A_uc001iza.1_Missense_Mutation_p.S401L	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	457						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.E400*(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACAAAAGAATCATCTACAAAA	0.378000														19			22		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56035908	56035908	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:56035908C>T	uc003pcs.3	-	3	891	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.R220Q|COL21A1_uc003pcu.1_Missense_Mutation_p.R220Q	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	220					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CACTGGAATTCGTGTTGGACA	0.323000														45			23		0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40854290	40854290	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:40854290C>T	uc002law.3	-	1	473	c.104G>A	c.(103-105)tGg>tAg	p.W35*	SYT4_uc010dng.3_Intron|SYT4_uc010xcm.2_Nonsense_Mutation_p.W17*	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	35						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						ACAGCAGATCCATGCAAAGAG	0.403000														18			6		0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221506	55221506	+	RNA	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:55221506C>T	uc002qgs.1	+	0		c.1906C>T			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		CCAGGCTGGGCTCTCCCAGGC	0.642000														44			11		0	0	1	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517071	158517071	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:158517071G>A	uc010pil.2	-	0	825	c.825C>T	c.(823-825)tcC>tcT	p.S275S		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA.	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CCACTTTGTTGGAATTGTAGG	0.463000														121			28		0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55615378	55615378	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:55615378G>A	uc010spf.2	+	0	570	c.570G>A	c.(568-570)gtG>gtA	p.V190V		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TAGTCACAGTGGATACAACCA	0.448000														55			22		0	0	1	0	0
YIPF7	285525	broad.mit.edu	37	4	44626678	44626678	+	Missense_Mutation	SNP	A	G	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:44626678A>G	uc021xnx.1	-	4	637	c.620T>C	c.(619-621)cTg>cCg	p.L207P		NM_182592	NP_872398	Q8N8F6	YIPF7_HUMAN	Homo sapiens Yip1 domain family, member 7 (YIPF7), mRNA.	207						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						GCAGTAACCCAGCACGCTGGC	0.532000														10			3		0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27193298	27193298	+	Missense_Mutation	SNP	T	G	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:27193298T>G	uc001zbd.2	+	10	1839	c.1307T>G	c.(1306-1308)tTg>tGg	p.L436W	GABRA5_uc021sgi.1_Missense_Mutation_p.L436W|GABRA5_uc001zbe.1_Non-coding_Transcript	NM_000810	NP_001158509	P31644	GBRA5_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	436					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTCCCAGTCTTGTTCGGCACT	0.438000														16			7		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61310722	61310722	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:61310722G>A	uc002ljf.3	-	1	176	c.90C>T	c.(88-90)tcC>tcT	p.S30S	SERPINB3_uc002lje.3_Silent_p.S30S|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	30					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						TGCTGATAGGGGAATAGAAGA	0.418000														66			28		0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101109875	101109875	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:101109875G>A	uc003pqk.3	-	15	2839	c.2510C>T	c.(2509-2511)tCc>tTc	p.S837F	ASCC3_uc011eai.1_Missense_Mutation_p.S739F	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	837	Helicase C-terminal 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTCAACAAAGGAGCCTCTTTT	0.348000														32			19		0	0	1	0	0
AK022382	0	broad.mit.edu	37	10	52390642	52390642	+	RNA	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:52390642C>T	uc001jjf.1	+	1		c.1335C>T								Homo sapiens cDNA FLJ12320 fis, clone MAMMA1002082.																		AACTCTTCATCGTCAACTACT	0.438000														14			9		0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4929285	4929285	+	Missense_Mutation	SNP	C	T	T	rs147819477	byFrequency	TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:4929285C>T	uc010qyq.2	+	0	686	c.686C>T	c.(685-687)tCt>tTt	p.S229F		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCATTGCATCTTTGGCAGAG	0.473000														60			37		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179702013	179702013	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:179702013G>A	uc002une.2	-	22	4051	c.3933C>T	c.(3931-3933)gcC>gcT	p.A1311A	CCDC141_uc002unf.1_Silent_p.A790A	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	736							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTCTGTGTAAGGCAGTACTCT	0.468000														44			9		0	0	1	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46054122	46054122	+	Silent	SNP	T	C	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:46054122T>C	uc010wlc.2	+	8	1027	c.903T>C	c.(901-903)acT>acC	p.T301T	CDK5RAP3_uc002imq.1_Silent_p.T56T|CDK5RAP3_uc002imr.3_Silent_p.T281T|CDK5RAP3_uc002ims.3_Silent_p.T194T	NM_176096	NP_788276	Q96JB5	CK5P3_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 3 (CDK5RAP3), mRNA.	281					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						CTGAGGGGACTGACTCTGGCA	0.537000														59			15		0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88766516	88766516	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:88766516G>A	uc021xpx.1	+	3	601	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	MEPE_uc021xpu.1_Missense_Mutation_p.E166K|MEPE_uc021xpv.1_Missense_Mutation_p.E53K|MEPE_uc021xpw.1_Missense_Mutation_p.E53K|MEPE_uc010ikn.3_Missense_Mutation_p.E53K|MEPE_uc003hqy.3_Missense_Mutation_p.E166K|MEPE_uc021xpy.1_Missense_Mutation_p.E53K	NM_001184697	NP_001171626	Q9NQ76	MEPE_HUMAN	Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA.	166					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		ACTCCTGGGGGAAGAAAACAA	0.403000														34			22		0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40814536	40814536	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr22:40814536G>A	uc003ayv.1	-	8	2113	c.1906C>T	c.(1906-1908)Ccc>Tcc	p.P636S	MKL1_uc010gyf.1_Missense_Mutation_p.P586S|MKL1_uc003ayw.1_Missense_Mutation_p.P636S|MKL1_uc010gye.1_Missense_Mutation_p.P636S	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	636	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						TGGGGGGCGGGGACCGGCTCG	0.687000			T	RBM15	acute megakaryocytic leukemia									44			15		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801254	185801254	+	Missense_Mutation	SNP	G	C	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:185801254G>C	uc002uph.3	+	3	1725	c.1131G>C	c.(1129-1131)gaG>gaC	p.E377D		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	377						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTACCACAGAGGAAAATGTTA	0.383000														32			9		0	0	1	0	0
CASC1	55259	broad.mit.edu	37	12	25314101	25314101	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:25314101C>T	uc001rgk.3	-	2	134	c.52G>A	c.(52-54)Gct>Act	p.A18T	CASC1_uc001rgj.3_5'UTR|CASC1_uc001rgm.4_Missense_Mutation_p.A76T|CASC1_uc001rgl.3_Missense_Mutation_p.A12T|CASC1_uc010sje.2_Intron|CASC1_uc010sjf.2_5'UTR|CASC1_uc010sjg.1_Missense_Mutation_p.A12T|CASC1_uc010sjh.1_Non-coding_Transcript	NM_018272	NP_060742	Q6TDU7	CASC1_HUMAN	Homo sapiens cancer susceptibility candidate 1 (CASC1), transcript variant 1, mRNA.	12										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			AATCGTTCAGCTTTGGTGACT	0.358000														109			51		0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75601621	75601621	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:75601621G>A	uc001sxg.1	-	1	687	c.143C>T	c.(142-144)aCc>aTc	p.T48I	KCNC2_uc009zry.3_Missense_Mutation_p.T48I|KCNC2_uc001sxe.3_Missense_Mutation_p.T48I|KCNC2_uc001sxf.3_Missense_Mutation_p.T48I|KCNC2_uc010stw.1_Missense_Mutation_p.T48I	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	48					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GCCCGCCGTGGTCAAGCAGTC	0.741000														30			13		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720598	140720598	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:140720598C>T	uc003ljk.2	+	0	2245	c.2060C>T	c.(2059-2061)tCg>tTg	p.S687L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.S687L	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	688					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAACGATTCGGACCTCACT	0.682000														108			54		0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990777	63990777	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:63990777G>A	uc003peh.3	-	3	713	c.679C>T	c.(679-681)Cct>Tct	p.P227S	LGSN_uc003pei.3_Intron	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	227					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GTTAAAGCAGGAAAAGATATA	0.398000														22			11		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55968586	55968586	+	Missense_Mutation	SNP	T	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:55968586T>A	uc003has.3	-	13	2379	c.2077A>T	c.(2077-2079)Aat>Tat	p.N693Y	KDR_uc003hat.1_Missense_Mutation_p.N693Y	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	693	Ig-like C2-type 7.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.G692V(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GGAGGGGGATTCCCAGATGCC	0.473000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				47			22		0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176700722	176700722	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:176700722G>A	uc003mfr.4	+	16	5697	c.5559G>A	c.(5557-5559)gaG>gaA	p.E1853E	NSD1_uc003mft.4_Silent_p.E1584E|NSD1_uc003mfs.1_Silent_p.E1750E|NSD1_uc011dfx.2_Silent_p.E1501E	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	1853					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCCAAAAAGAGCTAAGACAGC	0.433000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				64			24		0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889196	23889196	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:23889196C>T	uc001ywj.4	-	0	3798	c.3694G>A	c.(3694-3696)Gaa>Aaa	p.E1232K		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GTGTCAGGTTCATCCTCATCT	0.572000														36			15		0	0	1	0	0
HAS2	3037	broad.mit.edu	37	8	122626849	122626849	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:122626849G>A	uc003yph.2	-	3	1697	c.1159C>T	c.(1159-1161)Cct>Tct	p.P387S		NM_005328	NP_005319	Q92819	HAS2_HUMAN	Homo sapiens hyaluronan synthase 2 (HAS2), mRNA.	387						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AGAAAGAAAGGAAAGAATCCA	0.423000														122			32		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140215986	140215986	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:140215986G>A	uc003lhq.2	+	0	2018	c.2018G>A	c.(2017-2019)gGc>gAc	p.G673D	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.G673D	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	682	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)			GTGGAAAGCGGCCAGGCACCA	0.657000														82			26		0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70526232	70526232	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:70526232G>A	uc002lkw.3	-	3	582	c.298C>T	c.(298-300)Cat>Tat	p.H100Y	NETO1_uc002lky.2_Missense_Mutation_p.H100Y|NETO1_uc002lkz.3_Missense_Mutation_p.H99Y	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	100	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ACTTCAATATGATCAAATTTG	0.388000														41			18		0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154139205	154139205	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:154139205C>T	uc003faa.3	-	2	1346	c.1246G>A	c.(1246-1248)Gat>Aat	p.D416N		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	416						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCATAGTAATCTTCATGTGCT	0.318000														23			9		0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57088714	57088714	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:57088714C>T	uc021tiu.1	+	23	3685	c.3558C>T	c.(3556-3558)acC>acT	p.T1186T	NLRC5_uc021tiv.1_Silent_p.T991T|NLRC5_uc021tiw.1_Silent_p.T961T|NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Silent_p.T102T	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1186					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGGCCAACACCTTAAGCCTGT	0.582000														164			65		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38749042	38749042	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:38749042C>T	uc021yzh.1	+	15	2261	c.2152C>T	c.(2152-2154)Cag>Tag	p.Q718*	DNAH8_uc003ooe.2_Nonsense_Mutation_p.Q501*	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTATCATTCTCAGAAAGATGA	0.383000														61			10		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56204466	56204466	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:56204466G>A	uc002lhj.4	-	4	3167	c.2953C>T	c.(2953-2955)Cct>Tct	p.P985S	ALPK2_uc002lhk.1_Missense_Mutation_p.P316S	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	985							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTCTCCCAAGGAAAACTCACA	0.473000														50			20		0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77642817	77642817	+	Silent	SNP	A	G	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr13:77642817A>G	uc021rks.1	-	69	12321	c.12054T>C	c.(12052-12054)tcT>tcC	p.S4018S	MYCBP2_uc010aev.3_Silent_p.S3384S|MYCBP2_uc001vke.3_Silent_p.S597S	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	3980					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTAAAACCATAGAGAGCAGCT	0.478000														32			14		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124044831	124044831	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:124044831C>T	uc003ehg.3	+	6	1218	c.1091C>T	c.(1090-1092)gCc>gTc	p.A364V	KALRN_uc010hrv.1_Missense_Mutation_p.A364V|KALRN_uc003ehf.1_Missense_Mutation_p.A364V|KALRN_uc011bjy.1_Missense_Mutation_p.A364V	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	364					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTCCAGAATGCCTATGTCAAC	0.527000														64			24		0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543523	182543523	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:182543523C>T	uc021vto.1	-	0	65	c.65G>A	c.(64-66)tGg>tAg	p.W22*	CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Nonsense_Mutation_p.W22*|NEUROD1_uc021vtn.1_Nonsense_Mutation_p.W22*	NM_002500	NP_002491	Q13562	NDF1_HUMAN	Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA.	22					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTCGTCTGTCCAGCTTGGAGG	0.547000														36			15		0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170494	90170494	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:90170494G>A	uc003hsm.1	-	1	1287	c.768C>T	c.(766-768)ggC>ggT	p.G256G	GPRIN3_uc021xqb.1_Silent_p.G256G	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	256										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TGCCTTGGGGGCCCGAGGCAG	0.572000														50			22		0	0	1	0	0
FAM74A3	728495	broad.mit.edu	37	9	40716017	40716017	+	RNA	SNP	A	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:40716017A>T	uc010mmk.2	+	0		c.494A>T								Homo sapiens family with sequence similarity 74, member A3 (FAM74A3), non-coding RNA.											endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAAGACGTGGAGAGAGTTCAG	0.547000														23			5		0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79787588	79787588	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:79787588C>T	uc011dyp.2	-	1	309	c.83G>A	c.(82-84)tGt>tAt	p.C28Y	PHIP_uc003pir.3_Missense_Mutation_p.C28Y	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	28					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CGCCTGCTGACAGGGTCCATC	0.786000														8			3		0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589520	140589520	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:140589520C>T	uc003liz.3	+	0	1230	c.1041C>T	c.(1039-1041)atC>atT	p.I347I	PCDHB12_uc011dak.2_Silent_p.I10I	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	347	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCTGAAATCACTGTGTCAT	0.438000														38			12		0	0	1	0	0
ADRB2	154	broad.mit.edu	37	5	148207022	148207023	+	Missense_Mutation	DNP	GT	AC	AC			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:148207022_148207023GT>AC	uc003lpr.2	+	0	867_868	c.628_629GT>AC	c.(628-630)gtt>ACt	p.V210T	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	Homo sapiens adrenergic, beta-2-, receptor, surface (ADRB2), mRNA.	210					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	GTCCTTCTACGTTCCCCTGGTG	0.530000														119			56		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97124019	97124019	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:97124019G>A	uc010how.1	+	5	1675	c.1632G>A	c.(1630-1632)agG>agA	p.R544R		NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	449						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GTGTGGTAAGGAAGGACTGGG	0.398000														4			3		0	0	1	0	0
ALOX15B	247	broad.mit.edu	37	17	7950591	7950591	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:7950591C>T	uc002gju.3	+	10	1589	c.1473C>T	c.(1471-1473)atC>atT	p.I491I	ALOX15B_uc002gjv.3_Silent_p.I462I|ALOX15B_uc002gjw.3_Intron|ALOX15B_uc010vun.2_Intron|ALOX15B_uc010cnp.3_Silent_p.I297I	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	491	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TCTCTGAAATCATCGGTATCT	0.527000														69			29		0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39178307	39178307	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:39178307C>T	uc004abi.3	-	4	828	c.589G>A	c.(589-591)Gat>Aat	p.D197N	CNTNAP3_uc004abj.3_Missense_Mutation_p.D197N|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Missense_Mutation_p.D197N|CNTNAP3_uc011lqs.1_Missense_Mutation_p.D197N	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	197	Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGTTTTTTATCAAGTCTATAC	0.318000														74			13		0	0	1	0	0
KRT20	54474	broad.mit.edu	37	17	39036926	39036926	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:39036926C>T	uc002hvl.3	-	2	628	c.570G>A	c.(568-570)ttG>ttA	p.L190L		NM_019010	NP_061883	P35900	K1C20_HUMAN	Homo sapiens keratin 20 (KRT20), mRNA.	190	Coil 1B.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TTTGAATCTCCAAATCTGTTT	0.398000														41			37		0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161520868	161520868	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:161520868G>A	uc010jjc.3	+	1	500	c.142G>A	c.(142-144)Gat>Aat	p.D48N	GABRG2_uc003lyy.4_Missense_Mutation_p.D48N|GABRG2_uc003lyz.4_Missense_Mutation_p.D48N|GABRG2_uc011dej.2_5'UTR	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	48					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		TGACTATGAAGATTATGCTTC	0.368000														31			19		0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24901325	24901325	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:24901325C>T	uc003sxf.3	-	9	1339	c.934G>A	c.(934-936)Gat>Aat	p.D312N	OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Missense_Mutation_p.D312N|OSBPL3_uc003sxh.3_Missense_Mutation_p.D281N|OSBPL3_uc003sxi.3_Missense_Mutation_p.D281N|OSBPL3_uc003sxj.1_Missense_Mutation_p.D77N|OSBPL3_uc003sxk.1_Missense_Mutation_p.D46N	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.	312					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TCTCCAAAATCTAGTGTTGAC	0.378000														56			24		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394323	233394323	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:233394323G>A	uc001hvl.2	-	4	1520	c.1285C>T	c.(1285-1287)Cct>Tct	p.P429S	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	429						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTGATTACAGGAATTGAGATC	0.577000														82			73		0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45567438	45567438	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:45567438G>A	uc010dnv.3	-	2	543	c.107C>T	c.(106-108)cCc>cTc	p.P36L	ZBTB7C_uc002ldb.3_Missense_Mutation_p.P14L|ZBTB7C_uc010dnu.3_Missense_Mutation_p.P23L|ZBTB7C_uc010dnw.3_Missense_Mutation_p.P14L|ZBTB7C_uc010dnx.1_Missense_Mutation_p.P14L|ZBTB7C_uc010dny.1_Missense_Mutation_p.P14L|ZBTB7C_uc010dnz.1_Missense_Mutation_p.P36L|ZBTB7C_uc010doi.1_Missense_Mutation_p.P14L|ZBTB7C_uc010doj.1_Missense_Mutation_p.P23L|ZBTB7C_uc010dok.1_Missense_Mutation_p.P63L|ZBTB7C_uc010dol.1_Missense_Mutation_p.P23L|ZBTB7C_uc010doa.1_Missense_Mutation_p.P36L|ZBTB7C_uc010dob.1_Missense_Mutation_p.P14L|ZBTB7C_uc010doc.1_Missense_Mutation_p.P23L|ZBTB7C_uc010dod.1_Missense_Mutation_p.P36L|ZBTB7C_uc010doe.1_Missense_Mutation_p.P14L|ZBTB7C_uc010dof.1_Missense_Mutation_p.P14L|ZBTB7C_uc010dog.1_Missense_Mutation_p.P14L|ZBTB7C_uc010doh.1_Missense_Mutation_p.P23L|ZBTB7C_uc010dom.1_Missense_Mutation_p.P23L|ZBTB7C_uc010don.1_Missense_Mutation_p.P22L|ZBTB7C_uc010dop.1_Missense_Mutation_p.P14L|ZBTB7C_uc010doq.1_Missense_Mutation_p.P23L|ZBTB7C_uc010dor.1_Missense_Mutation_p.P36L|ZBTB7C_uc010dos.1_Missense_Mutation_p.P14L|ZBTB7C_uc010dot.1_Missense_Mutation_p.P14L|ZBTB7C_uc010doo.1_Missense_Mutation_p.P14L|ZBTB7C_uc010dou.1_Missense_Mutation_p.P23L	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	14	BTB.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GCTGTGGTTGGGGAAGGGAAT	0.572000														42			21		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233393932	233393932	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:233393932G>A	uc001hvl.2	-	4	1911	c.1676C>T	c.(1675-1677)tCc>tTc	p.S559F	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	559						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTCAGATTTGGAAGTTGGCAT	0.438000														25			24		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047904	9047904	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:9047904C>T	uc002mkp.3	-	4	33931	c.33727G>A	c.(33727-33729)Ggg>Agg	p.G11243R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11245	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTTCTGTCCCAGGATGAGCG	0.478000														16			4		0	0	1	0	0
ODF2L	57489	broad.mit.edu	37	1	86852605	86852605	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:86852605G>A	uc001dll.2	-	1	468	c.106C>T	c.(106-108)Ctc>Ttc	p.L36F	ODF2L_uc001dlp.3_Missense_Mutation_p.L36F|ODF2L_uc010osg.2_Missense_Mutation_p.L36F|ODF2L_uc001dlm.2_Missense_Mutation_p.L36F|ODF2L_uc021opg.1_5'UTR|ODF2L_uc001dlq.2_Intron|ODF2L_uc009wcr.2_Intron	NM_001007022	NP_001007023	Q9ULJ1	ODF2L_HUMAN	Homo sapiens outer dense fiber of sperm tails 2-like (ODF2L), transcript variant 2, mRNA.	36						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TACCAGCTGAGATGACTTTCA	0.343000														35			31		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085017	9085017	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:9085017G>A	uc002mkp.3	-	0	7002	c.6798C>T	c.(6796-6798)ttC>ttT	p.F2266F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2266	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTTTTCTGGGAAATGTGAGA	0.438000														13			8		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103124573	103124573	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:103124573C>T	uc002tbz.4	+	4	1691	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	412					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TAACCAGTTTCGGACTTTCCC	0.448000														67			37		0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45518304	45518304	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr21:45518304C>T	uc002zea.3	+	20	3404	c.3235C>T	c.(3235-3237)Ctc>Ttc	p.L1079F	TRAPPC10_uc010gpo.3_Missense_Mutation_p.L790F|TRAPPC10_uc011afa.2_Missense_Mutation_p.L457F|TRAPPC10_uc011afb.1_Missense_Mutation_p.L184F	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	1079					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	p.L1079L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						AACAGGCTCCCTCTGCTCCCT	0.478000														61			41		0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200818673	200818673	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:200818673C>T	uc001gvl.3	+	11	3079	c.2809C>T	c.(2809-2811)Cca>Tca	p.P937S	CAMSAP2_uc001gvk.3_Missense_Mutation_p.P926S|CAMSAP2_uc001gvm.3_Missense_Mutation_p.P910S	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	937						cytoplasm|microtubule	protein binding										ACAACCCTCTCCACAGAAACA	0.473000														69			92		0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124190054	124190054	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:124190054G>A	uc010sah.2	-	0	40	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AAGCCTGCCAGGATAAACTCA	0.418000														66			28		0	0	1	0	0
PGC	5225	broad.mit.edu	37	6	41712540	41712540	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:41712540G>A	uc003ora.2	-	1	133	c.66C>T	c.(64-66)ccC>ccT	p.P22P	PGC_uc021yzm.1_Silent_p.P22P	NM_002630	NP_002621	P20142	PEPC_HUMAN	Homo sapiens progastricsin (pepsinogen C) (PGC), transcript variant 1, mRNA.	22					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			ATTTCTTCAGGGGCACTCTAC	0.507000														30			10		0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19496146	19496146	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:19496146C>T	uc002wrl.3	+	2	483	c.286C>T	c.(286-288)Ccc>Tcc	p.P96S		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	96						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GCATGAATTCCCCAATGACAT	0.498000														92			30		0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152732646	152732646	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:152732646G>A	uc001fal.1	+	1	640	c.582G>A	c.(580-582)caG>caA	p.Q194Q	KPRP_uc021ozf.1_Silent_p.Q194Q	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	194	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGCCCCCAGTTTCAGTCAA	0.547000														81			73		0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121768091	121768091	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:121768091G>A	uc003pyr.3	+	1	348	c.98G>A	c.(97-99)cGa>cAa	p.R33Q	GJA1_uc011ebo.1_Intron|GJA1_uc011ebp.1_5'UTR|GJA1_uc021zel.1_Missense_Mutation_p.R33Q	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	33					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TTCATTTTCCGAATCCTGCTG	0.512000														60			21		0	0	1	0	0
TWISTNB	221830	broad.mit.edu	37	7	19748469	19748469	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:19748469G>A	uc003sup.1	-	0	192	c.171C>T	c.(169-171)atC>atT	p.I57I		NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN	Homo sapiens TWIST neighbor (TWISTNB), mRNA.	57						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GCGACAGCGCGATGTGCCTTT	0.597000											OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		32			17		0	0	1	0	0
ZIC2	7546	broad.mit.edu	37	13	100635342	100635342	+	Missense_Mutation	SNP	A	C	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr13:100635342A>C	uc001von.3	+	0	1317	c.1024A>C	c.(1024-1026)Aaa>Caa	p.K342Q		NM_007129	NP_009060	O95409	ZIC2_HUMAN	Homo sapiens Zic family member 2 (ZIC2), mRNA.	342					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGGCTGTGGCAAAGTCTTCGC	0.627000														52			24		0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21330979	21330979	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr22:21330979C>T	uc002ztj.2	+	11	1288	c.1070C>T	c.(1069-1071)tCt>tTt	p.S357F	LZTR1_uc002ztk.2_Missense_Mutation_p.S357F|LZTR1_uc002ztl.2_Missense_Mutation_p.S363F|LZTR1_uc011ahx.1_Missense_Mutation_p.S345F|LZTR1_uc002ztn.3_5'Flank	NM_144704	NP_653305	Q8N653	LZTR1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AAGGCCCACTCTGTGTCTGTG	0.657000														5			7		0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184045168	184045168	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:184045168C>T	uc003fnp.3	+	23	3864	c.3593C>T	c.(3592-3594)cCc>cTc	p.P1198L	EIF4G1_uc010hxx.3_Missense_Mutation_p.P1205L|EIF4G1_uc003fnt.3_Missense_Mutation_p.P909L|EIF4G1_uc010hxy.3_Missense_Mutation_p.P1205L|EIF4G1_uc003fnq.3_Missense_Mutation_p.P1111L|EIF4G1_uc003fnr.3_Missense_Mutation_p.P1034L|EIF4G1_uc003fns.3_Missense_Mutation_p.P1158L|EIF4G1_uc003fnv.4_Missense_Mutation_p.P1199L|EIF4G1_uc003fnw.3_Missense_Mutation_p.P1205L|EIF4G1_uc003fnx.3_Missense_Mutation_p.P1003L	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	1198					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGAGAACGGCCCTCCCAGCCT	0.662000														50			21		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61306458	61306458	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:61306458C>T	uc002ljf.3	-	6	815	c.729G>A	c.(727-729)atG>atA	p.M243I	SERPINB3_uc002lje.3_Missense_Mutation_p.M222I|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	243					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.M243I(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GCAGCACAATCATGCTTAGAT	0.423000														68			15		0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206023565	206023565	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:206023565C>T	uc002var.2	+	10	1761	c.1554C>T	c.(1552-1554)tcC>tcT	p.S518S	PARD3B_uc010fub.2_Silent_p.S518S|PARD3B_uc002vao.2_Silent_p.S518S|PARD3B_uc002vap.2_Intron|PARD3B_uc002vaq.2_Silent_p.S518S	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	518	PDZ 3.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GGAACAAATCCAGAGAAACTG	0.473000														50			21		0	0	1	0	0
ZNF207	7756	broad.mit.edu	37	17	30687920	30687920	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:30687920C>T	uc010csz.3	+	5	841	c.494C>T	c.(493-495)cCa>cTa	p.P165L	ZNF207_uc002hhj.4_Missense_Mutation_p.P162L|ZNF207_uc002hhh.4_Missense_Mutation_p.P162L|ZNF207_uc002hhi.4_Missense_Mutation_p.P162L|ZNF207_uc002hhk.1_Missense_Mutation_p.P162L|ZNF207_uc002hhl.1_Non-coding_Transcript			O43670	ZN207_HUMAN	Homo sapiens zinc finger protein 207 (ZNF207), transcript variant 3, mRNA.	162						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GGCATACCTCCATTAATGCCA	0.388000														30			9		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33165255	33165255	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:33165255C>T	uc001wrq.3	+	8	3109	c.2939C>T	c.(2938-2940)tCc>tTc	p.S980F	AKAP6_uc010aml.3_Missense_Mutation_p.S977F	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	980					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GACATGGAGTCCCTTGTGATG	0.473000														29			17		0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661717	4661717	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:4661717C>T	uc010qyk.2	+	0	773	c.697C>T	c.(697-699)Ctc>Ttc	p.L233F		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCATATATCCTCATCCTGTG	0.507000														44			14		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43212361	43212361	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:43212361G>A	uc002lbe.3	+	4	1384	c.568G>A	c.(568-570)Gga>Aga	p.G190R	SLC14A2_uc002lbb.3_Missense_Mutation_p.G190R|SLC14A2_uc010dnj.3_Missense_Mutation_p.G190R	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	190						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GATGCTGGTGGGACTGCTGAT	0.527000														79			33		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40693026	40693026	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:40693026G>A	uc001rmg.4	+	24	3584	c.3463G>A	c.(3463-3465)Gtg>Atg	p.V1155M	LRRK2_uc001rmh.1_Missense_Mutation_p.V777M|LRRK2_uc009zjw.3_5'UTR	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1155					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTGTCCTAAAGTGGAGAGTTT	0.423000														74			28		0	0	1	0	0
PXN	5829	broad.mit.edu	37	12	120657799	120657799	+	RNA	SNP	T	C	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:120657799T>C	uc001tya.3	-	0		c.122A>G			PXN_uc001txu.3_5'Flank|PXN_uc001txx.3_Intron|PXN_uc001txt.3_Intron|PXN_uc001txv.3_Intron|PXN_uc001txy.3_Intron|PXN_uc001txz.3_Non-coding_Transcript			P49023	PAXI_HUMAN	Homo sapiens cDNA: FLJ23042 fis, clone LNG02323.						cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAAATACAGATGGCATGGGAG	0.612000														28			11		0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113538089	113538089	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:113538089G>A	uc022blv.1	+	9	1340	c.1206G>A	c.(1204-1206)aaG>aaA	p.K402K	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Silent_p.K321K|MUSK_uc022blu.1_Silent_p.K311K	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	402	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TGGCAGTAAAGGAGCTCTTCT	0.428000														29			19		0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201467062	201467062	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:201467062C>T	uc002uvx.3	+	5	593	c.492C>T	c.(490-492)ttC>ttT	p.F164F		NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	164					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GCAAGACTTTCTGTAAAGTAA	0.453000														27			16		0	0	1	0	0
VASH2	79805	broad.mit.edu	37	1	213134570	213134570	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:213134570G>A	uc001hjy.3	+	1	543	c.339G>A	c.(337-339)gcG>gcA	p.A113A	VASH2_uc001hju.2_Silent_p.A113A|VASH2_uc001hjv.2_Non-coding_Transcript|VASH2_uc001hjx.3_Silent_p.A48A|VASH2_uc010ptn.2_Silent_p.A9A|VASH2_uc001hjw.3_Silent_p.A113A	NM_001136475	NP_001129947	Q86V25	VASH2_HUMAN	Homo sapiens vasohibin 2 (VASH2), transcript variant 3, mRNA.	113					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm		p.A113V(1)|p.A113E(1)		endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		GGCTCCAGGCGATCCAGAATT	0.522000														122			35		0	0	1	0	0
TUSC3	7991	broad.mit.edu	37	8	15480759	15480759	+	Splice_Site	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:15480759G>A	uc003wwt.3	+	2	652	c.308_splice	c.e2+1	p.R103_splice	TUSC3_uc003wwu.3_Splice_Site_p.R103_splice	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.	103					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		CTGTGTGCAGGtaatttatgt	0.289000														54			10		0	0	1	0	0
CDX2	1045	broad.mit.edu	37	13	28539080	28539080	+	Missense_Mutation	SNP	A	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr13:28539080A>T	uc001urv.3	-	1	788	c.614T>A	c.(613-615)tTt>tAt	p.F205Y		NM_001265	NP_001256	Q99626	CDX2_HUMAN	Homo sapiens caudal type homeobox 2 (CDX2), mRNA.	205					organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		ACTGTAGTGAAACTCCTTCTC	0.597000			T	ETV6	AML									22			7		0	0	1	0	0
DHX36	170506	broad.mit.edu	37	3	154018391	154018391	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:154018391C>T	uc003ezy.4	-	10	1534	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	DHX36_uc010hvq.3_Missense_Mutation_p.E485K|DHX36_uc003ezz.4_Missense_Mutation_p.E485K	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA.	485	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ACCTCTTCTTCCAAAACAATG	0.299000														12			9		0	0	1	0	0
GALNTL1	57452	broad.mit.edu	37	14	69813851	69813851	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:69813851G>A	uc001xlb.2	+	12	1693	c.1366G>A	c.(1366-1368)Gga>Aga	p.G456R	GALNTL1_uc001xla.2_Missense_Mutation_p.G456R|GALNTL1_uc010aqu.2_Missense_Mutation_p.G456R	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.	456	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		CTTCCTGCTTGGAATGGGGAT	0.592000											OREG0022763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		16			14		0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913323	77913323	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:77913323C>T	uc022bzi.1	-	0	595	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	ZCCHC5_uc004edc.1_Missense_Mutation_p.E199K	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	199							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TCTAGGAATTCCTGGGCATTT	0.547000														8			13		0	0	1	0	0
TAS2R46	259292	broad.mit.edu	37	12	11214258	11214258	+	Silent	SNP	A	G	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:11214258A>G	uc001qzp.1	-	0	636	c.636T>C	c.(634-636)caT>caC	p.H212H	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176887	NP_795368	P59540	T2R46_HUMAN	Homo sapiens taste receptor, type 2, member 46 (TAS2R46), mRNA.	212					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity	p.H212N(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		ATCCTTTGCCATGGAGCTGCA	0.413000														107			45		0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119623164	119623164	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:119623164C>T	uc003pym.1	-	3	1247	c.805G>A	c.(805-807)Gat>Aat	p.D269N	MAN1A1_uc010kei.2_Missense_Mutation_p.D292N	NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	269					post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ACATTAAAATCTAAATTTTCT	0.294000														8			4		0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30915203	30915203	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:30915203C>T	uc003tbt.3	+	14	1980	c.1903C>T	c.(1903-1905)Ctc>Ttc	p.L635F	FAM188B_uc010kwe.3_Missense_Mutation_p.L606F|FAM188B_uc011kac.1_5'UTR|FAM188B_uc003tbu.3_Missense_Mutation_p.L155F	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	635										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CATCACACTTCTCAGAGGCAT	0.488000														83			40		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94088152	94088152	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:94088152C>T	uc001ybv.1	+	27	4191	c.4108C>T	c.(4108-4110)Cgg>Tgg	p.R1370W	UNC79_uc001ybs.1_Missense_Mutation_p.R1348W	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1525						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTGCATAGATCGGTGTGACAT	0.453000														48			19		0	0	1	0	0
PARP11	57097	broad.mit.edu	37	12	3935326	3935326	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:3935326G>A	uc001qmk.1	-	2	376	c.321C>T	c.(319-321)ttC>ttT	p.F107F	PARP11_uc001qml.2_Silent_p.F114F|PARP11_uc009zef.2_Non-coding_Transcript|PARP11_uc001qmm.2_Silent_p.F33F|PARP11_uc001qmn.2_Silent_p.F33F	NM_020367	NP_065100	Q9NR21	PAR11_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 11 (PARP11), mRNA.	107							NAD+ ADP-ribosyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			TACCATACCTGAAAGCACTGA	0.348000														67			27		0	0	1	0	0
GIP	2695	broad.mit.edu	37	17	47044540	47044540	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:47044540C>T	uc002iol.1	-	1	153	c.55G>A	c.(55-57)Gga>Aga	p.G19R		NM_004123	NP_004114	P09681	GIP_HUMAN	Homo sapiens gastric inhibitory polypeptide (GIP), mRNA.	19					energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity			lung(2)|skin(1)|stomach(1)	4						TCTCCTAGTCCCACTGCCAGG	0.517000														76			47		0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228903	142228903	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:142228903C>T	uc003ywd.1	-	3	991	c.683G>A	c.(682-684)gGc>gAc	p.G228D	SLC45A4_uc003ywc.1_Missense_Mutation_p.G228D|SLC45A4_uc010meq.1_Missense_Mutation_p.G226D	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	279					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGCAGGGACGCCGTGCGGCTC	0.677000														160			50		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934508	30934508	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:30934508G>A	uc002nsu.1	+	1	177	c.39G>A	c.(37-39)gcG>gcA	p.A13A	ZNF536_uc010edd.1_Silent_p.A13A	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGTCTTCGGCGGAGCCGGAAG	0.607000														94			38		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44670038	44670038	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:44670038G>A	uc010zxl.1	+	7	1070	c.994G>A	c.(994-996)Gga>Aga	p.G332R	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.G309R	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	332					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGCTTGGGAAGGAAATGAGAC	0.552000														47			21		0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56310321	56310321	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:56310321C>T	uc010rjl.2	-	0	413	c.413G>A	c.(412-414)aGa>aAa	p.R138K	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						GATGCAAACTCTCCTGGACGT	0.512000														18			8		0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160846563	160846563	+	Missense_Mutation	SNP	T	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:160846563T>A	uc001fxc.3	-	7	949	c.833A>T	c.(832-834)cAg>cTg	p.Q278L		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	278					positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCCACACTGCTGGGGACTGGC	0.498000														68			67		0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95481623	95481623	+	Missense_Mutation	SNP	T	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:95481623T>A	uc010fhq.2	-	1	757	c.365A>T	c.(364-366)tAt>tTt	p.Y122F	ANKRD20A2_uc010fhp.3_Non-coding_Transcript	NM_001012421	NP_001012421	Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A2 (ANKRD20A2), mRNA.	542										large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						GTCCTTAAGATATTTATTTTC	0.313000														44			13		0	0	1	0	0
RHOT1	55288	broad.mit.edu	37	17	30536451	30536451	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:30536451C>T	uc002hgw.3	+	18	2061	c.1822C>T	c.(1822-1824)Cta>Tta	p.L608L	RHOT1_uc002hgy.3_Intron|RHOT1_uc002hgz.3_Intron|RHOT1_uc002hha.3_Silent_p.L481L|RHOT1_uc010csv.3_Intron|RHOT1_uc002hgx.3_Intron|RHOT1_uc010wby.2_Silent_p.L608L|RHOT1_uc002hhb.3_Intron|RHOT1_uc002hgv.3_3'UTR	NM_001033568	NP_001028740	Q8IXI2	MIRO1_HUMAN	Homo sapiens ras homolog gene family, member T1 (RHOT1), transcript variant 1, mRNA.	0					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	GTP binding|GTPase activity|calcium ion binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				CTGGGTCTTTCTAAAAACTGC	0.353000														15			8		0	0	1	0	0
KRI1	65095	broad.mit.edu	37	19	10670352	10670352	+	Silent	SNP	G	A	A	rs139920982		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:10670352G>A	uc002moy.1	-	10	987	c.978C>T	c.(976-978)tcC>tcT	p.S326S	KRI1_uc002mow.1_5'UTR|KRI1_uc002mox.1_Silent_p.S322S	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Homo sapiens KRI1 homolog (S. cerevisiae) (KRI1), mRNA.	326	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TACGGCGCACGGAGGACGCGA	0.622000														31			24		0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153727185	153727185	+	Missense_Mutation	SNP	G	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:153727185G>T	uc009wom.3	+	9	1148	c.927G>T	c.(925-927)atG>atT	p.M309I	INTS3_uc001fct.3_Missense_Mutation_p.M309I|INTS3_uc001fcu.3_Missense_Mutation_p.M1I|INTS3_uc001fcv.3_Missense_Mutation_p.M103I|INTS3_uc010peb.2_Missense_Mutation_p.M103I|INTS3_uc001fcw.3_5'UTR|INTS3_uc010pec.2_5'Flank	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	310					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCCCGGACATGGAGACTAAAC	0.498000														88			78		2.47556e-37	2.53337e-37	1	1	0
GUK1	2987	broad.mit.edu	37	1	228333218	228333218	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:228333218C>T	uc021pkf.1	+	1	143	c.68C>T	c.(67-69)tCg>tTg	p.S23L	GUK1_uc021pke.1_Missense_Mutation_p.S2L|GUK1_uc001hsj.3_5'UTR|GUK1_uc001hsh.3_Missense_Mutation_p.S2L|GUK1_uc001hsi.3_Missense_Mutation_p.S23L|GUK1_uc010pvv.2_Missense_Mutation_p.S2L	NM_001242840	NP_001229769	Q16774	KGUA_HUMAN	Homo sapiens guanylate kinase 1 (GUK1), transcript variant 5, mRNA.	2	Guanylate kinase-like.				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity	p.K22K(1)		endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				CCAGGCATGTCGGGCCCCAGG	0.627000														33			6		0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458252	248458252	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:248458252G>A	uc010pzj.2	-	0	629	c.629C>T	c.(628-630)tCc>tTc	p.S210F		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F209L(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			CAGGATGAGGGAAAAGGGGAC	0.547000														69			11		0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233245367	233245367	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:233245367C>T	uc002vsq.3	+	7	1065	c.900C>T	c.(898-900)atC>atT	p.I300I		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	300						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		AATACGAGATCCACCGAGACT	0.632000														16			8		0	0	1	0	0
GPR20	2843	broad.mit.edu	37	8	142367518	142367518	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:142367518G>A	uc022bby.1	-	0	506	c.506C>T	c.(505-507)gCc>gTc	p.A169V	GPR20_uc003ywf.3_Missense_Mutation_p.A169V	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	169						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			GGCGCACACGGCCCTGGCACA	0.706000														9			4		0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1023555	1023555	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:1023555G>A	uc001lsw.2	-	25	3531	c.3480C>T	c.(3478-3480)tgC>tgT	p.C1160C		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1160					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGGGCAGAGGCAGGGCTGGT	0.617000														12			8		0	0	1	0	0
SH2D2A	9047	broad.mit.edu	37	1	156777075	156777075	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:156777075G>A	uc009wsh.2	-	7	1235	c.1095C>T	c.(1093-1095)ccC>ccT	p.P365P	SH2D2A_uc001fqc.1_Silent_p.P327P|SH2D2A_uc001fqd.2_Silent_p.P355P|SH2D2A_uc001fqe.2_Silent_p.P337P|SH2D2A_uc010phs.1_Silent_p.P355P	NM_001161441	NP_001154913	Q9NP31	SH22A_HUMAN	Homo sapiens SH2 domain containing 2A (SH2D2A), transcript variant 1, mRNA.	355	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGGGCTGGTGGGGCAGGGGAG	0.597000														15			22		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540140	55540140	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:55540140C>T	uc003xsd.1	+	3	3846	c.3698C>T	c.(3697-3699)tCc>tTc	p.S1233F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1233					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CAAGGAATCTCCTCTTTGGAT	0.443000														90			26		0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97888090	97888090	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:97888090C>T	uc011bgu.2	+	0	547	c.547C>T	c.(547-549)Cca>Tca	p.P183S		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P183T(2)|p.P183L(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TGACACTATCCCATTGTCTAA	0.313000														11			7		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179631287	179631287	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:179631287G>A	uc010pnp.2	+	14	2889	c.2371G>A	c.(2371-2373)Gat>Aat	p.D791N	TDRD5_uc021pfm.1_Missense_Mutation_p.D737N|TDRD5_uc001gnf.2_Missense_Mutation_p.D737N|TDRD5_uc021pfn.1_Missense_Mutation_p.D791N|TDRD5_uc001gnh.2_Missense_Mutation_p.D292N	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	789					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GACCATAGGTGATGATATTTG	0.423000														42			34		0	0	1	0	0
SPRED2	200734	broad.mit.edu	37	2	65571879	65571879	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:65571879G>A	uc002sdr.4	-	1	713	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	SPRED2_uc010fcw.3_Missense_Mutation_p.H57Y|SPRED2_uc010fcx.1_Non-coding_Transcript	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 2 (SPRED2), transcript variant 1, mRNA.	60	WH1.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CGTTCACCATGGATGAGAAAG	0.498000														16			9		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35631866	35631866	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:35631866C>T	uc003xjr.2	+	15	2856	c.2528C>T	c.(2527-2529)cCt>cTt	p.P843L	UNC5D_uc003xjs.2_Missense_Mutation_p.P838L|UNC5D_uc003xju.2_Missense_Mutation_p.P419L	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	843					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGCACTTTCCCTGCACAGACT	0.468000														83			21		0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	242011030	242011030	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:242011030G>A	uc002wah.1	+	24	3629	c.3629G>A	c.(3628-3630)gGa>gAa	p.G1210E	SNED1_uc002wai.1_Missense_Mutation_p.G445E|SNED1_uc002waj.1_Missense_Mutation_p.G297E|SNED1_uc002wak.3_Missense_Mutation_p.G297E|SNED1_uc002wal.3_Missense_Mutation_p.G37E	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	1210					cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CACCAGGGAGGACACCACCCT	0.721000														10			4		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120760584	120760584	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:120760584G>A	uc003eec.4	+	3	465	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	STXBP5L_uc011bji.2_Missense_Mutation_p.E109K	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	109					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TTGCCAACATGAAAGTGGTGC	0.368000														27			11		0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44596943	44596943	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:44596943G>A	uc002xqw.3	-	3	624	c.501C>T	c.(499-501)atC>atT	p.I167I	ZNF335_uc010zxk.2_Intron|ZNF335_uc002xqx.1_Silent_p.I135I|ZNF335_uc002xqy.3_5'UTR	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GGCCCTGTAGGATCAGGTACC	0.637000														121			46		0	0	1	0	0
TRDN	10345	broad.mit.edu	37	6	123542639	123542639	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:123542639C>T	uc003pzj.2	-	39	2361	c.2043G>A	c.(2041-2043)aaG>aaA	p.K681K	TRDN_uc010kem.2_Silent_p.K182K	NM_006073	NP_006064	Q13061	TRDN_HUMAN	Homo sapiens triadin (TRDN), transcript variant 1, mRNA.	681					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TACTTTTCTGCTTTGTGGGAG	0.264000														11			5		0	0	1	0	0
SYNPO	11346	broad.mit.edu	37	5	150028349	150028349	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:150028349C>T	uc003lsn.3	+	2	1618	c.1244C>T	c.(1243-1245)tCc>tTc	p.S415F	SYNPO_uc021yfu.1_Missense_Mutation_p.S415F|SYNPO_uc003lso.4_Missense_Mutation_p.S171F|SYNPO_uc003lsp.3_Missense_Mutation_p.S171F|SYNPO_uc021yfv.1_Missense_Mutation_p.S171F	NM_001166208	NP_001159681	Q8N3V7	SYNPO_HUMAN	Homo sapiens synaptopodin (SYNPO), transcript variant 3, mRNA.	415					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCACCTTCTCCAGAGAAGCT	0.572000														149			65		0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158913629	158913629	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:158913629G>A	uc001ftb.3	+	5	1302	c.1052G>A	c.(1051-1053)gGa>gAa	p.G351E	PYHIN1_uc001ftc.3_Missense_Mutation_p.G342E|PYHIN1_uc001ftd.3_Missense_Mutation_p.G351E|PYHIN1_uc001fte.3_Missense_Mutation_p.G342E	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	351	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GATAAAACAGGAAGTATGGCT	0.368000														21			21		0	0	1	0	0
ATP5G2	517	broad.mit.edu	37	12	54063086	54063087	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:54063086_54063087GT>AA	uc001sec.3	-	3	460_461	c.327_328AC>TT	c.(325-330)tcactt>tcTTtt	p.L110F	ATP5G2_uc001sed.3_Missense_Mutation_p.L69F|ATP5G2_uc009znc.3_Missense_Mutation_p.L53F	NM_005176	NP_005167	Q06055	AT5G2_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) (ATP5G2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	53					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						CTAGAGACAAGTGAGGTAAGGG	0.505000														25			13		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9317805	9317805	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:9317805C>T	uc021wam.1	+	1	132	c.117C>T	c.(115-117)ttC>ttT	p.F39F	PLCB4_uc010gbw.1_Silent_p.F39F|PLCB4_uc010gbx.3_Silent_p.F39F|PLCB4_uc021wal.1_Silent_p.F39F	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	39					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.F39F(2)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ACTGCCTCTTCAAAGTGGATG	0.378000														40			21		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149509678	149509678	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:149509678G>A	uc010lpk.3	+	69	9943	c.9943G>A	c.(9943-9945)Gag>Aag	p.E3315K		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3318	TIL 5.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGAAGGGGCCGAGTATAGCCC	0.617000														53			30		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432767	104432767	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:104432767C>T	uc004bbp.2	-	2	2528	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N	GRIN3A_uc004bbq.1_Missense_Mutation_p.D643N	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	643					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTGGTGAAATCTATCACCTGG	0.547000														42			30		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049684	107049684	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:107049684C>T	uc010ywi.1	-	15	2320	c.2263G>A	c.(2263-2265)Gaa>Aaa	p.E755K		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	755					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTATAGTTTTCGAGTTCCTGC	0.368000														231			38		0	0	1	0	0
DMPK	1760	broad.mit.edu	37	19	46281829	46281829	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:46281829G>A	uc002pdi.1	-	5	767	c.581C>T	c.(580-582)cCg>cTg	p.P194L	DMPK_uc010xxs.1_Missense_Mutation_p.P79L|DMPK_uc002pdd.1_Missense_Mutation_p.P178L|DMPK_uc002pde.1_Missense_Mutation_p.P178L|DMPK_uc002pdg.1_Missense_Mutation_p.P168L|DMPK_uc002pdf.1_Missense_Mutation_p.P168L|DMPK_uc002pdh.1_Missense_Mutation_p.P168L|DMPK_uc010xxt.1_Missense_Mutation_p.P168L|DMPK_uc010xxu.1_3'UTR	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	178	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CATCTCGGCCGGAATCCGCTC	0.612000														30			17		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64556476	64556476	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:64556476C>T	uc003jtp.3	-	13	2595	c.1781G>A	c.(1780-1782)gGa>gAa	p.G594E	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.G215E	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	594	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GCAATATTTTCCACCTCCTGA	0.333000														22			4		0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30898098	30898098	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:30898098G>A	uc002wxq.3	+	1	698	c.518G>A	c.(517-519)gGa>gAa	p.G173E	KIF3B_uc010ztv.2_Missense_Mutation_p.G173E|KIF3B_uc010ztw.2_Missense_Mutation_p.G173E	NM_004798	NP_004789	O15066	KIF3B_HUMAN	Homo sapiens kinesin family member 3B (KIF3B), mRNA.	173	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|Rho GTPase binding|plus-end-directed microtubule motor activity			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCTGACACAGGAGTGTATGTG	0.488000														45			19		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592078	38592078	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:38592078G>A	uc021wvo.1	-	26	5837	c.5785C>T	c.(5785-5787)Cgt>Tgt	p.R1929C	SCN5A_uc021wvk.1_Missense_Mutation_p.R1896C|SCN5A_uc021wvl.1_Missense_Mutation_p.R1875C|SCN5A_uc021wvm.1_Missense_Mutation_p.R1911C|SCN5A_uc021wvn.1_Missense_Mutation_p.R1928C|SCN5A_uc021wvp.1_Missense_Mutation_p.R1929C|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.R1741C|SCN5A_uc021wvi.1_Missense_Mutation_p.R1795C	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1929	IQ.				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.R1929H(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCCTGCTGACGGAAGAGGAAG	0.627000														18			11		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42041410	42041410	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:42041410C>T	uc010ucy.2	+	16	5786	c.5605C>T	c.(5605-5607)Caa>Taa	p.Q1869*	MGA_uc010ucz.2_Nonsense_Mutation_p.Q1660*|MGA_uc010uda.1_Nonsense_Mutation_p.Q485*|MGA_uc001zoi.3_Nonsense_Mutation_p.Q83*	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1830						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TCCTGTAATTCAAGCTGTTGG	0.488000														24			27		0	0	1	0	0
CD36	948	broad.mit.edu	37	7	80303447	80303447	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:80303447C>T	uc003uhc.3	+	16	2087	c.1403C>T	c.(1402-1404)tCg>tTg	p.S468L	CD36_uc011kgv.2_Missense_Mutation_p.S392L|CD36_uc003uhd.4_Missense_Mutation_p.S468L|CD36_uc003uhe.4_Missense_Mutation_p.S468L|CD36_uc003uhf.4_Missense_Mutation_p.S468L|CD36_uc003uhg.4_Missense_Mutation_p.S468L|CD36_uc003uhh.4_Missense_Mutation_p.S468L|CD36_uc022agu.1_Missense_Mutation_p.S429L|CD36_uc022agv.1_Missense_Mutation_p.S408L	NM_001127444	NP_001120916	P16671	CD36_HUMAN	Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 5, mRNA.	468					cGMP-mediated signaling|cell adhesion|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						GCATGCAGATCGAAAACAATA	0.294000														14			5		0	0	1	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117973852	117973852	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:117973852G>A	uc021qrd.1	+	3	485	c.194G>A	c.(193-195)gGg>gAg	p.G65E	TMPRSS4_uc009yzu.3_Non-coding_Transcript|TMPRSS4_uc021qre.1_Missense_Mutation_p.G65E|TMPRSS4_uc010rxo.2_Missense_Mutation_p.G63E|TMPRSS4_uc010rxs.2_Missense_Mutation_p.G25E|TMPRSS4_uc010rxq.2_5'UTR|TMPRSS4_uc010rxr.2_Missense_Mutation_p.G40E|TMPRSS4_uc010rxt.2_Missense_Mutation_p.G40E	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.	65	LDL-receptor class A.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.G65W(1)		breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TTCCTCTGCGGGCAGCCTCTC	0.587000														76			58		0	0	1	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66992641	66992641	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:66992641G>A	uc003xvs.1	+	4	654	c.363G>A	c.(361-363)acG>acA	p.T121T	DNAJC5B_uc003xvt.1_Non-coding_Transcript	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 beta (DNAJC5B), mRNA.	121					protein folding	membrane	heat shock protein binding|unfolded protein binding	p.T121M(1)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			GCCTCTTGACGGgctgctact	0.552000														60			21		0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086605	100086605	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:100086605G>A	uc003uvd.1	+	3	1420	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	NYAP1_uc003uve.1_Missense_Mutation_p.E203K	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	421	Pro-rich.																GCCCCGGGGGGAGCGGGAGCT	0.756000														23			5		0	0	1	0	0
DOK7	285489	broad.mit.edu	37	4	3495009	3495009	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:3495009G>A	uc003ghd.3	+	6	1366	c.1296G>A	c.(1294-1296)agG>agA	p.R432R	DOK7_uc003ghe.3_3'UTR|DOK7_uc003ghf.3_Missense_Mutation_p.G174E|DOK7_uc003ghg.1_Silent_p.R122R	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA.	432					positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GTGCGGCCAGGGACTCAGGCG	0.721000														19			11		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90151562	90151562	+	Silent	SNP	T	C	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:90151562T>C	uc003kju.3	+	81	17695	c.17599T>C	c.(17599-17601)Ttg>Ctg	p.L5867L	GPR98_uc003kjt.3_Silent_p.L3573L|GPR98_uc003kjw.3_Silent_p.L1528L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5867	GPS.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCCTAGCTGGTTGTCTGACAG	0.398000														84			37		0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114414213	114414213	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:114414213C>T	uc001eds.3	-	0	163	c.33G>A	c.(31-33)ctG>ctA	p.L11L	LOC100287722_uc001edv.1_Intron|PTPN22_uc021orx.1_Silent_p.L11L|PTPN22_uc009wgq.3_Silent_p.L11L|PTPN22_uc021ory.1_Silent_p.L11L|PTPN22_uc010owo.2_5'UTR|PTPN22_uc001edt.3_Silent_p.L11L|PTPN22_uc009wgr.2_Silent_p.L11L|PTPN22_uc009wgs.2_Silent_p.L11L|PTPN22_uc001edu.2_Silent_p.L11L	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	11					T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGCCTCATCCAGGAACTTCT	0.433000														20			26		0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155265550	155265550	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:155265550G>A	uc002tyt.4	+	8	1455	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	GALNT13_uc002tyr.4_Missense_Mutation_p.E451K|GALNT13_uc010foc.1_Missense_Mutation_p.E270K|GALNT13_uc010fod.3_Missense_Mutation_p.E204K	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	451	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CAAGGAAAATGAAAAAGTGGG	0.363000														31			17		0	0	1	0	0
C1QL4	338761	broad.mit.edu	37	12	49730104	49730104	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:49730104G>A	uc001rtz.1	-	0	868	c.157C>T	c.(157-159)Ccg>Tcg	p.P53S		NM_001008223	NP_001008224	Q86Z23	C1QL4_HUMAN	Homo sapiens complement component 1, q subcomponent-like 4 (C1QL4), mRNA.	53	Collagen-like.					collagen				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						GCGCCTGGCGGGAAGGGGGGC	0.746000														3			4		0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6037039	6037039	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:6037039G>A	uc003spl.3	-	6	808	c.721C>T	c.(721-723)Cct>Tct	p.P241S	PMS2_uc003spj.3_Missense_Mutation_p.P135S|PMS2_uc003spk.3_Missense_Mutation_p.P106S|PMS2_uc011jwl.2_Missense_Mutation_p.P106S|PMS2_uc010ktg.3_5'UTR|PMS2_uc010kte.3_Missense_Mutation_p.P241S|PMS2_uc010ktf.2_Missense_Mutation_p.P241S	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	241					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TGAACAAAAGGAATGAGGCTT	0.378000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					17			7		0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180408	124180408	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:124180408G>A	uc010sag.2	-	0	255	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TCTTTCCTAGGAAGTTCACCA	0.473000														28			9		0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206165448	206165448	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:206165448G>A	uc002var.2	+	16	2587	c.2380G>A	c.(2380-2382)Gaa>Aaa	p.E794K	PARD3B_uc010fub.2_Missense_Mutation_p.E794K|PARD3B_uc002vao.2_Missense_Mutation_p.E794K|PARD3B_uc002vap.2_Missense_Mutation_p.E732K|PARD3B_uc002vaq.2_Intron	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	794					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TGGACCTGAAGAAATAGAAGC	0.463000														39			19		0	0	1	0	0
C1QTNF6	114904	broad.mit.edu	37	22	37578718	37578718	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr22:37578718G>A	uc003aqx.1	-	2	610	c.347C>T	c.(346-348)cCc>cTc	p.P116L	C1QTNF6_uc003aqw.1_Missense_Mutation_p.P97L|C1QTNF6_uc003aqy.1_Missense_Mutation_p.P116L|C1QTNF6_uc003aqz.1_Intron	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 6 (C1QTNF6), transcript variant 2, mRNA.	97	Collagen-like.					collagen				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						CTCCCCTTGGGGACCCTCCCT	0.657000														33			5		0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657684	143657684	+	Silent	SNP	G	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:143657684G>T	uc003wds.1	+	0	665	c.621G>T	c.(619-621)ctG>ctT	p.L207L		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TTGTTCTTCTGATGACACCCT	0.478000														47			25		1.55469e-16	1.57818e-16	1	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77401593	77401593	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:77401593C>T	uc002ffc.4	-	3	942	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	175					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATGAGGAATTCATTTTTTCGT	0.463000														43			20		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914478	147914478	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:147914478C>T	uc003weu.2	+	18	3625	c.3109C>T	c.(3109-3111)Ccc>Tcc	p.P1037S		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1037					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGACAACGCTCCCGACCAGCA	0.537000										HNSCC(39;0.1)				63			22		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34554649	34554649	+	Missense_Mutation	SNP	A	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:34554649A>T	uc001bxm.1	-	1	510	c.333T>A	c.(331-333)ttT>ttA	p.F111L	CSMD2_uc001bxn.1_Missense_Mutation_p.F71L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	71	CUB 1.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTTCCAGGGCAAAGGACTGGA	0.562000														24			29		0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48241495	48241495	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:48241495G>A	uc002lev.3	+	2	1593	c.593G>A	c.(592-594)cGa>cAa	p.R198Q	MAPK4_uc010xdm.2_5'UTR|MAPK4_uc010doz.3_Missense_Mutation_p.R198Q	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	198	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CGTTCCCCACGACTGCTCCTT	0.502000														51			22		0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55111310	55111310	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:55111310C>T	uc010rie.2	+	0	634	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CTTTACCTTTCTGCTAATCTC	0.438000														88			24		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123847992	123847992	+	Splice_Site	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:123847992G>A	uc001lfv.3	+	5	5820	c.5460_splice	c.e5-1	p.R1820_splice	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Splice_Site_p.R1820_splice|TACC2_uc010qtv.2_Splice_Site_p.R1820_splice	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1820						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TATTATCCCAGAGAGAGCCCC	0.413000														7			4		0	0	1	0	0
RGS11	8786	broad.mit.edu	37	16	320791	320791	+	Missense_Mutation	SNP	C	T	T	rs149964951	byFrequency	TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:320791C>T	uc002cgj.1	-	13	1022	c.1019G>A	c.(1018-1020)cGa>cAa	p.R340Q	LUC7L_uc021szo.1_Intron|RGS11_uc002cgi.1_Missense_Mutation_p.R319Q|RGS11_uc010bqs.1_Missense_Mutation_p.R329Q|RGS11_uc002cgk.1_Missense_Mutation_p.R156Q	NM_183337	NP_003825	O94810	RGS11_HUMAN	Homo sapiens regulator of G-protein signaling 11 (RGS11), transcript variant 1, mRNA.	340	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CGCTCCATATCGAAGCTCCTC	0.667000														13			6		0	0	1	0	0
CLEC6A	93978	broad.mit.edu	37	12	8630023	8630023	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:8630023G>A	uc001qum.1	+	5	710	c.593G>A	c.(592-594)aGg>aAg	p.R198K		NM_001007033	NP_001007034	Q6EIG7	CLC6A_HUMAN	Homo sapiens C-type lectin domain family 6, member A (CLEC6A), mRNA.	198	C-type lectin.				defense response to fungus|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cytokine secretion	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					GAAACTAGAAGGAATTCAATA	0.383000														22			11		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166246306	166246306	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:166246306G>A	uc002udc.3	+	26	6280	c.5990G>A	c.(5989-5991)gGg>gAg	p.G1997E	SCN2A_uc002udd.3_Missense_Mutation_p.G1997E|SCN2A_uc002ude.3_Missense_Mutation_p.G1997E|SCN2A_uc021vry.1_Missense_Mutation_p.G497E	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1997					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GAAGACAAAGGGAAAGATATC	0.373000														12			5		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57828156	57828156	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:57828156C>T	uc002yan.3	+	3	4151	c.4151C>T	c.(4150-4152)tCa>tTa	p.S1384L		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1384						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGTACAAGTTCAAGAATTGTC	0.468000														63			30		0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95945599	95945599	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:95945599C>T	uc002suk.3	+	10	1414	c.1281C>T	c.(1279-1281)atC>atT	p.I427I	PROM2_uc002suh.2_Silent_p.I427I|PROM2_uc002sui.3_Silent_p.I427I|PROM2_uc002suj.3_Silent_p.I81I|PROM2_uc002sul.3_5'UTR|PROM2_uc002sum.3_Non-coding_Transcript	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	427						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		p.W426R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GCAGGTGGATCGTGGGCTGCG	0.627000														48			17		0	0	1	0	0
HAPLN1	1404	broad.mit.edu	37	5	82940434	82940434	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:82940434G>A	uc003kim.3	-	2	594	c.523C>T	c.(523-525)Cac>Tac	p.H175Y	HAPLN1_uc003kin.3_Missense_Mutation_p.H175Y	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	175	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		TGCGCCTCGTGAAAATTGAGA	0.567000														30			11		0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122216474	122216474	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:122216474G>A	uc002tnc.3	-	12	1646	c.1256C>T	c.(1255-1257)cCa>cTa	p.P419L	CLASP1_uc002tna.3_5'Flank|CLASP1_uc010yyw.2_Non-coding_Transcript|CLASP1_uc002tnb.3_Non-coding_Transcript|CLASP1_uc010yyx.2_Non-coding_Transcript|CLASP1_uc010yyy.2_Non-coding_Transcript|CLASP1_uc010yyz.2_Missense_Mutation_p.P419L|CLASP1_uc010yza.2_Missense_Mutation_p.P419L|CLASP1_uc021vnl.1_Missense_Mutation_p.P419L|CLASP1_uc010yzc.2_Non-coding_Transcript|CLASP1_uc002tng.1_Missense_Mutation_p.P419L	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	419					G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GGCACTGTTTGGAATTAAATT	0.383000														74			27		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233512192	233512192	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:233512192G>A	uc001hvt.4	+	7	2104	c.1843G>A	c.(1843-1845)Gat>Aat	p.D615N	KIAA1804_uc001hvu.4_Missense_Mutation_p.D61N	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	615					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				ACCTCTCTCCGATGGCAACAG	0.393000														41			16		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815323	106815323	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:106815323G>A	uc003ymd.3	+	7	3036	c.3013G>A	c.(3013-3015)Gag>Aag	p.E1005K	ZFPM2_uc011lhs.2_Missense_Mutation_p.E736K	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	1005					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CACTGACATCGAGCAAAGCAG	0.418000														32			5		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17053495	17053495	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:17053495G>A	uc011awc.2	+	2	2729	c.2633G>A	c.(2632-2634)gGa>gAa	p.G878E	PLCL2_uc011awd.2_Missense_Mutation_p.G760E	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	886					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CGAAGAGGAGGAGGAAAGCCT	0.483000														49			25		0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45823708	45823708	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:45823708G>A	uc011bai.2	-	1	253	c.129C>T	c.(127-129)ttC>ttT	p.F43F	SLC6A20_uc011baj.2_Silent_p.F43F	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	43					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		AGGGGACCAGGAAACTACCTG	0.577000														46			11		0	0	1	0	0
EPHX2	2053	broad.mit.edu	37	8	27362641	27362641	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:27362641C>T	uc003xfu.3	+	3	596	c.515C>T	c.(514-516)aCc>aTc	p.T172I	EPHX2_uc010lut.1_Missense_Mutation_p.T172I|EPHX2_uc010luv.3_Missense_Mutation_p.T106I|EPHX2_uc003xfv.3_Missense_Mutation_p.T119I|EPHX2_uc010luw.3_Missense_Mutation_p.T106I|EPHX2_uc011lam.1_Missense_Mutation_p.T28I	NM_001979	NP_001970	P34913	HYES_HUMAN	Homo sapiens epoxide hydrolase 2, cytoplasmic (EPHX2), mRNA.	172	Phosphatase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	Golgi apparatus|cytosol|focal adhesion|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	CTGCTGGACACCCTGAAGGCC	0.498000														31			8		0	0	1	0	0
C20orf194	25943	broad.mit.edu	37	20	3356928	3356928	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:3356928G>A	uc002wii.2	-	3	356	c.305C>T	c.(304-306)tCg>tTg	p.S102L	C20orf194_uc002wik.2_5'Flank|C20orf194_uc010gay.1_Non-coding_Transcript	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.	102										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GACGCTATCCGATTTAATCAA	0.333000														22			7		0	0	1	0	0
PRRG3	79057	broad.mit.edu	37	X	150869164	150869164	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:150869164C>T	uc022cgt.1	+	3	404	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	PRRG3_uc004few.2_Missense_Mutation_p.R119W	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	119						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTCAGAACCGGTACCTAGC	0.632000														26			44		0	0	1	0	0
TEPP	374739	broad.mit.edu	37	16	58011929	58011929	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:58011929C>T	uc002emv.4	+	1	411	c.374C>T	c.(373-375)aCc>aTc	p.T125I	TEPP_uc002emw.4_Missense_Mutation_p.T125I	NM_199046	NP_950247	Q6URK8	TEPP_HUMAN	Homo sapiens testis, prostate and placenta expressed (TEPP), transcript variant 1, mRNA.	125						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						CAGTCCACCACCTACTGCCGC	0.592000														15			9		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196254848	196254848	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:196254848C>T	uc001gtd.1	-	22	2696	c.2636G>A	c.(2635-2637)cGa>cAa	p.R879Q	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.R805Q|KCNT2_uc001gtf.1_Missense_Mutation_p.R855Q|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.R855Q|KCNT2_uc001gth.1_Missense_Mutation_p.R376Q	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	879						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.R879*(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AAAAGGCAGTCGAAACATAAA	0.383000														35			17		0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36660410	36660410	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:36660410C>T	uc022abu.1	-	8	1080	c.679G>A	c.(679-681)Gat>Aat	p.D227N	AOAH_uc003tfh.4_Missense_Mutation_p.D227N|AOAH_uc011kba.2_Missense_Mutation_p.D195N	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	227					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						CAGTTTGAATCCTGATGGACA	0.403000														20			3		0	0	1	0	0
YARS	8565	broad.mit.edu	37	1	33241626	33241626	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:33241626C>T	uc001bvy.1	-	12	2331	c.1543G>A	c.(1543-1545)Ggc>Agc	p.G515S	YARS_uc001bvw.1_Missense_Mutation_p.G175S|YARS_uc001bvx.1_Missense_Mutation_p.G166S	NM_003680	NP_003671	P54577	SYYC_HUMAN	Homo sapiens tyrosyl-tRNA synthetase (YARS), mRNA.	515					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	GAAATGGAGCCCAGCTTGGTC	0.483000														11			19		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10087932	10087932	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:10087932C>T	uc002mmq.1	-	43	3347	c.3261G>A	c.(3259-3261)aaG>aaA	p.K1087K		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1087	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CTTTACTCCCCTTGTGTCCGG	0.602000														50			20		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088834	9088834	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:9088834G>A	uc002mkp.3	-	0	3185	c.2981C>T	c.(2980-2982)gCt>gTt	p.A994V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	994	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATTACAGTAGCAGAGAGAGA	0.478000														155			58		0	0	1	0	0
AK8	158067	broad.mit.edu	37	9	135702433	135702433	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:135702433G>A	uc004cbu.1	-	7	1121	c.565C>T	c.(565-567)Cac>Tac	p.H189Y	AK8_uc010mzx.1_Non-coding_Transcript|AK8_uc004cbv.1_5'UTR	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	Homo sapiens adenylate kinase 8 (AK8), mRNA.	189						cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						AAGGTGGTGTGATAAATCTCT	0.567000														79			48		0	0	1	0	0
SRC	6714	broad.mit.edu	37	20	36031649	36031649	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:36031649C>T	uc002xgx.3	+	13	1927	c.1478C>T	c.(1477-1479)tCc>tTc	p.S493F	SRC_uc002xgy.3_Missense_Mutation_p.S493F|SRC_uc021wdd.1_Non-coding_Transcript	NM_005417	NP_938033	P12931	SRC_HUMAN	Homo sapiens v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) (SRC), transcript variant 1, mRNA.	493	Protein kinase.				Ras protein signal transduction|T cell costimulation|axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly	caveola|cytosol|mitochondrial inner membrane	ATP binding|SH2 domain binding|SH3/SH2 adaptor activity|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	TGTCCCGAGTCCCTGCACGAC	0.672000														4			4		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137690273	137690273	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:137690273G>A	uc004cfe.3	+	36	3300	c.2918G>A	c.(2917-2919)gGa>gAa	p.G973E		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	973	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGCAAGGATGGACTCCCAGGA	0.567000														32			11		0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74943966	74943966	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:74943966C>T	uc002jti.3	+	14	2108	c.2005C>T	c.(2005-2007)Ccc>Tcc	p.P669S	MGAT5B_uc002jth.3_Missense_Mutation_p.P658S|MGAT5B_uc002jtj.3_Missense_Mutation_p.P65S	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	660						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCGCAGAGCCCCTTTGTCCT	0.697000														36			12		0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22134111	22134111	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:22134111C>T	uc010tmd.2	+	0	815	c.815C>T	c.(814-816)tCt>tTt	p.S272F		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		AAGGTGGTGTCTGTCTTCTAC	0.502000														25			15		0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51955670	51955670	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:51955670C>T	uc002pwt.3	-	6	1530	c.1463G>A	c.(1462-1464)aGg>aAg	p.R488K	SIGLEC8_uc010yda.2_Missense_Mutation_p.R379K|SIGLEC8_uc002pwu.3_Intron|SIGLEC8_uc010eox.2_Missense_Mutation_p.R395K	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	488					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GTTGTGATTCCTCAAACAGGC	0.542000														46			19		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55085805	55085805	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:55085805C>T	uc010ern.3	+	3	577	c.108C>T	c.(106-108)ggC>ggT	p.G36G	LILRA1_uc002qgg.4_Silent_p.G36G|LILRA1_uc002qgf.3_Silent_p.G36G|LILRA1_uc010yfe.1_Silent_p.G36G|LILRA1_uc010yff.1_Silent_p.G24G|LILRA1_uc010ero.3_Silent_p.G24G|LILRA1_uc010yfg.1_Silent_p.G36G			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	36	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.G36G(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTGAGCCAGGCTCTGTGATCA	0.552000														81			24		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141294208	141294208	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:141294208G>A	uc002tvj.1	-	45	8556	c.7584C>T	c.(7582-7584)ctC>ctT	p.L2528L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2528	LDL-receptor class A 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATCACAGGTGAGCTGGTAGT	0.378000										TSP Lung(27;0.18)				34			15		0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194080728	194080728	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:194080728G>A	uc003ftt.3	-	2	1188	c.1063C>T	c.(1063-1065)Cac>Tac	p.H355Y	LRRC15_uc003ftu.3_Missense_Mutation_p.H349Y|LRRC15_uc021xiy.1_Missense_Mutation_p.H349Y	NM_001135057	NP_570843	Q8TF66	LRC15_HUMAN	Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA.	349						integral to membrane		p.Q354Q(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GCGTTGGTGTGGAGGGACAGC	0.602000														27			9		0	0	1	0	0
NADKD1	133686	broad.mit.edu	37	5	36217967	36217967	+	Missense_Mutation	SNP	T	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:36217967T>A	uc003jkf.4	-	5	664	c.664A>T	c.(664-666)Atc>Ttc	p.I222F	NADKD1_uc010iux.3_Missense_Mutation_p.I59F|NADKD1_uc003jkg.4_Missense_Mutation_p.I59F|NADKD1_uc011cov.2_Missense_Mutation_p.I59F	NM_001085411	NP_694558	Q4G0N4	NAKD1_HUMAN	Homo sapiens NAD kinase domain containing 1 (NADKD1), transcript variant 1, mRNA.	222							NAD+ kinase activity			NS(1)|breast(1)|lung(5)|ovary(4)|prostate(1)	12						TATAACCTGATTCTCTGCCTC	0.363000														47			25		0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221765	5221765	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:5221765G>A	uc010qyz.2	-	0	166	c.166C>T	c.(166-168)Cat>Tat	p.H56Y		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATATCACATGGAGAACCATG	0.522000														77			27		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70098693	70098693	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:70098693G>A	uc010kak.3	+	30	4755	c.4479G>A	c.(4477-4479)aaG>aaA	p.K1493K	BAI3_uc003pev.4_Silent_p.K1493K|BAI3_uc011dxx.2_Silent_p.K699K	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1493					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CAGAGGCAAAGGATGCTTTGG	0.443000														31			10		0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180165587	180165587	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:180165587G>A	uc001gnz.3	+	11	1734	c.1659G>A	c.(1657-1659)agG>agA	p.R553R	QSOX1_uc001gny.3_Silent_p.R553R|FLJ23867_uc001god.4_5'Flank	NM_002826	NP_002817	O00391	QSOX1_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 1 (QSOX1), transcript variant 1, mRNA.	553					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTGCCCGGAGGGATGTGCAGA	0.612000														121			91		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28720197	28720197	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:28720197G>A	uc002kwn.3	-	9	1590	c.1328C>T	c.(1327-1329)tCt>tTt	p.S443F	DSC1_uc002kwm.3_Missense_Mutation_p.S443F	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	443	Cadherin 3.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CGCTGCTTTAGAGAATTGTGC	0.398000														34			13		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26747090	26747090	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr22:26747090G>A	uc003acb.3	+	11	2676	c.2480G>A	c.(2479-2481)gGg>gAg	p.G827E	SEZ6L_uc003acd.3_Intron|SEZ6L_uc011akd.2_Missense_Mutation_p.G827E|SEZ6L_uc003ace.3_Missense_Mutation_p.G827E|SEZ6L_uc011akc.2_Missense_Mutation_p.G827E|SEZ6L_uc003acc.3_Missense_Mutation_p.G827E|SEZ6L_uc003acf.1_Missense_Mutation_p.G600E|SEZ6L_uc010gvc.1_Missense_Mutation_p.G600E|SEZ6L_uc011ake.2_Non-coding_Transcript	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	827	Sushi 4.					endoplasmic reticulum membrane|integral to membrane		p.V826V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTGCTGGTGGGGACCACCATC	0.552000														43			15		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220338615	220338615	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:220338615G>A	uc010fwg.3	+	17	4437	c.4437G>A	c.(4435-4437)ttG>ttA	p.L1479L		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1479	Ig-like 7.				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)		CGGTCACATTGGAGCTGGCAG	0.637000														65			12		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38225594	38225594	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr13:38225594G>A	uc010abx.3	-	7	2122	c.1887C>T	c.(1885-1887)gaC>gaT	p.D629D	TRPC4_uc010abv.3_Silent_p.D209D|TRPC4_uc001uwt.3_Silent_p.D629D|TRPC4_uc001uws.3_Silent_p.D629D|TRPC4_uc010tey.2_Silent_p.D629D|TRPC4_uc010abw.3_Silent_p.D456D|TRPC4_uc010aby.3_Intron	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	629	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TATCTGCATGGTCCTGAACAG	0.428000														31			15		0	0	1	0	0
GPR12	2835	broad.mit.edu	37	13	27333220	27333220	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr13:27333220C>T	uc021rhk.1	-	0	745	c.745G>A	c.(745-747)Ggg>Agg	p.G249R	GPR12_uc010aal.3_Missense_Mutation_p.G249R|GPR12_uc010tdl.2_Missense_Mutation_p.G90R	NM_005288	NP_005279	P47775	GPR12_HUMAN	Homo sapiens G protein-coupled receptor 12 (GPR12), mRNA.	249						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GTGGAGACCCCTTTCCGGGTG	0.547000														20			10		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115791956	115791956	+	Missense_Mutation	SNP	G	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:115791956G>T	uc003ibu.3	-	6	2366	c.1687C>A	c.(1687-1689)Ctc>Atc	p.L563I	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	563	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCAGGGAAGAGCTCAAAATAC	0.438000														41			16		1.56452e-12	1.58497e-12	1	1	0
CACNA1C	775	broad.mit.edu	37	12	2705124	2705124	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:2705124C>T	uc009zdu.1	+	19	3061	c.2748C>T	c.(2746-2748)tcC>tcT	p.S916S	CACNA1C_uc001qkc.2_Silent_p.S916S|CACNA1C_uc001qjz.2_Silent_p.S916S|CACNA1C_uc001qkd.2_Silent_p.S916S|CACNA1C_uc001qke.2_Silent_p.S916S|CACNA1C_uc001qkf.2_Silent_p.S916S|CACNA1C_uc009zdw.1_Silent_p.S916S|CACNA1C_uc001qkg.2_Silent_p.S916S|CACNA1C_uc001qkh.2_Silent_p.S916S|CACNA1C_uc001qkl.2_Silent_p.S916S|CACNA1C_uc001qkj.2_Silent_p.S916S|CACNA1C_uc001qkk.2_Silent_p.S916S|CACNA1C_uc001qkn.2_Silent_p.S916S|CACNA1C_uc001qkm.2_Silent_p.S916S|CACNA1C_uc001qko.2_Silent_p.S916S|CACNA1C_uc001qkp.2_Silent_p.S916S|CACNA1C_uc001qkq.2_Silent_p.S916S|CACNA1C_uc001qku.2_Silent_p.S916S|CACNA1C_uc001qkr.2_Silent_p.S916S|CACNA1C_uc001qks.2_Silent_p.S916S|CACNA1C_uc001qkt.2_Silent_p.S916S|CACNA1C_uc009zdv.1_Silent_p.S913S|CACNA1C_uc001qkb.2_Silent_p.S916S|CACNA1C_uc001qka.1_Silent_p.S451S|CACNA1C_uc001qki.1_Silent_p.S652S	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	916					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.S915P(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCAGCATTTCCCTGGCTGCTG	0.582000														49			20		0	0	1	0	0
OR5B17	219965	broad.mit.edu	37	11	58125670	58125670	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:58125670C>T	uc010rke.2	-	0	873	c.873G>A	c.(871-873)agG>agA	p.R291R		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CGTCTTTGTTCCTCAGGGTAT	0.378000														57			14		0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102826022	102826022	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:102826022G>A	uc001phl.3	-	1	350	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	107					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GAGTTCGAGGGAAAACATTGT	0.378000														27			20		0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43680079	43680079	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:43680079C>T	uc002ovu.3	-	2	783	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.E218K	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	218	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TCCCGTATTTCACATTCATAG	0.517000														92			63		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65241932	65241932	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:65241932C>T	uc001xht.3	-	21	4804	c.4753G>A	c.(4753-4755)Gag>Aag	p.E1585K	SPTB_uc001xhr.3_Missense_Mutation_p.E1585K|SPTB_uc001xhs.3_Missense_Mutation_p.E1585K|SPTB_uc001xhu.3_Missense_Mutation_p.E1585K|SPTB_uc010aqi.3_Missense_Mutation_p.E246K	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1585					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGCTGTGCCTCGTTGGCGTCC	0.657000														52			22		0	0	1	0	0
FAM75C2	645961	broad.mit.edu	37	9	90746775	90746775	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:90746775C>T	uc011lti.2	-	3	1206	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	393																	TGCTGAGTTTCAGGTAGGGAG	0.488000														132			60		0	0	1	0	0
CYP46A1	10858	broad.mit.edu	37	14	100165837	100165837	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:100165837C>T	uc001ygo.3	+	3	317	c.317C>T	c.(316-318)tCc>tTc	p.S106F	CYP46A1_uc001ygn.1_Missense_Mutation_p.S68F	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA.	106					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				AACAAGGACTCCAAGATGTAC	0.517000														177			64		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370718	240370718	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:240370718C>T	uc010pye.2	+	5	2843	c.2618C>T	c.(2617-2619)tCc>tTc	p.S873F	FMN2_uc010pyd.2_Missense_Mutation_p.S869F	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	869	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCTCCAGCTCCATGCCTGGC	0.577000														56			57		0	0	1	0	0
TREM2	54209	broad.mit.edu	37	6	41129026	41129026	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:41129026C>T	uc003opz.2	-	1	468	c.456G>A	c.(454-456)agG>agA	p.R152R	TREM2_uc003opy.2_Silent_p.R122R|TREM2_uc010jxl.1_Silent_p.R152R			Q9NZC2	TREM2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells 2 (TREM2), mRNA.	122					axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	p.D152Y(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCAGGACCTTCCTGAGGGTGT	0.612000														37			8		0	0	1	0	0
RPS27	6232	broad.mit.edu	37	1	153963239	153963239	+	Splice_Site	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:153963239C>T	uc001fdv.3	+	1	1	c.-33_splice	c.e1-1			NM_001030	NP_001021	P42677	RS27_HUMAN	Homo sapiens ribosomal protein S27 (RPS27), mRNA.						cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTTTCGCTCCTTTCCGGCGG	0.537000														59			22		0	0	1	0	0
TBX20	57057	broad.mit.edu	37	7	35280641	35280641	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:35280641C>T	uc011kas.2	-	4	1143	c.663G>A	c.(661-663)ttG>ttA	p.L221L		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	221						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GCATTGAGTTCAAAATTATCT	0.373000														30			9		0	0	1	0	0
NPVF	64111	broad.mit.edu	37	7	25266623	25266623	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:25266623T>C	uc003sxo.3	-	1	208	c.161A>G	c.(160-162)gAa>gGa	p.E54G		NM_022150	NP_071433	Q9HCQ7	RFRP_HUMAN	Homo sapiens neuropeptide VF precursor (NPVF), mRNA.	54					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity	p.E54K(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GAGGCTTCTTTCCCCTTTTGG	0.353000														40			19		0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23224067	23224067	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:23224067G>A	uc002dlm.1	+	8	1502	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	455					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TGTGTGCAAGGAAGCCTGCAG	0.567000														66			28		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70988446	70988446	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:70988446G>A	uc001swb.4	-	3	693	c.663C>T	c.(661-663)tcC>tcT	p.S221S	PTPRB_uc010sto.2_Silent_p.S221S|PTPRB_uc010stp.2_Silent_p.S221S|PTPRB_uc001swc.4_Silent_p.S439S|PTPRB_uc001swa.4_Silent_p.S439S|PTPRB_uc001swd.4_Silent_p.S438S|PTPRB_uc009zrr.2_Silent_p.S318S|PTPRB_uc001swe.3_Silent_p.S439S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	221	Fibronectin type-III 3.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CATGGGACCAGGAAATCAGGA	0.433000														26			14		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99690398	99690398	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:99690398G>A	uc001pga.3	+	3	683	c.179G>A	c.(178-180)gGa>gAa	p.G60E	CNTN5_uc009ywv.2_Missense_Mutation_p.G60E|CNTN5_uc001pfz.3_Missense_Mutation_p.G60E|CNTN5_uc021qpb.1_Missense_Mutation_p.G60E|CNTN5_uc021qpc.1_Intron	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	60					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCTTCATTAGGAACACTGAGT	0.433000														39			6		0	0	1	0	0
CALML5	51806	broad.mit.edu	37	10	5541081	5541081	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:5541081C>T	uc001iic.2	-	0	453	c.321G>A	c.(319-321)atG>atA	p.M107I		NM_017422	NP_059118	Q9NZT1	CALL5_HUMAN	Homo sapiens calmodulin-like 5 (CALML5), mRNA.	107	EF-hand 3.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						CCAGCCCCGCCATGGCCCGCC	0.711000														19			10		0	0	1	0	0
TEX101	83639	broad.mit.edu	37	19	43922545	43922545	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:43922545C>T	uc002owk.3	+	8	1361	c.800C>T	c.(799-801)tCc>tTc	p.S267F	TEX101_uc010xwo.2_Missense_Mutation_p.S249F	NM_031451	NP_001123483	Q9BY14	TX101_HUMAN	Homo sapiens testis expressed 101 (TEX101), transcript variant 1, mRNA.	249						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				ATTCACTTTTCCTAAGAAGGC	0.483000														43			15		0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	56998581	56998581	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:56998581G>A	uc001slq.1	-	14	2951	c.2757C>T	c.(2755-2757)tcC>tcT	p.S919S	BAZ2A_uc001slp.1_Silent_p.S917S|BAZ2A_uc001slo.1_5'Flank|BAZ2A_uc009zov.1_5'Flank|BAZ2A_uc009zow.1_Silent_p.S887S	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	919					DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						AGATCTTTAGGGACTGTGTGG	0.488000														13			5		0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971017	21971017	+	Missense_Mutation	SNP	G	A	A	rs121913386		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:21971017G>A	uc003zpk.3	-	1	647	c.341C>T	c.(340-342)cCc>cTc	p.P114L	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Missense_Mutation_p.P114L|CDKN2A_uc003zpl.3_Silent_p.A128A	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	114			P -> L (in non-small cell lung carcinoma).|P -> S (found in some patients with melanoma; loss of CDK4 binding).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.P114L(59)|p.?(44)|p.P114H(6)|p.H83fs*2(2)|p.P114S(2)|p.L113M(1)|p.V115fs*11(1)|p.0(1)|p.L113L(1)|p.A68fs*3(1)|p.L113P(1)|p.A169A(1)|p.P114P(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGGTCCACGGGCAGACGGCC	0.731000	P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				21			11		0	0	1	0	0
GXYLT1	283464	broad.mit.edu	37	12	42491381	42491381	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:42491381G>A	uc001rms.4	-	6	1249	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	GXYLT1_uc001rmt.4_Nonsense_Mutation_p.R311*	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	Homo sapiens glucoside xylosyltransferase 1 (GXYLT1), transcript variant 1, mRNA.	342					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	p.R342L(1)		kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						TGATCTGGTCGATAATTCCAT	0.368000														44			18		0	0	1	0	0
C3orf15	89876	broad.mit.edu	37	3	119426292	119426293	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:119426292_119426293CC>TT	uc003ede.4	+	2	320_321	c.243_244CC>TT	c.(241-246)atccat>atTTat	p.H82Y	C3orf15_uc010hqx.1_Missense_Mutation_p.H82Y|C3orf15_uc003edc.2_Missense_Mutation_p.H82Y|C3orf15_uc010hqy.2_Missense_Mutation_p.H82Y|C3orf15_uc010hqz.3_Missense_Mutation_p.H20Y|C3orf15_uc011bjd.2_Intron|C3orf15_uc011bje.2_Missense_Mutation_p.H62Y|C3orf15_uc010hra.2_5'UTR	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	82						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		GTAACCTGATCCATTATCCAAG	0.401000														29			9		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57286724	57286724	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:57286724G>A	uc002qnr.2	-	10	1298	c.916C>T	c.(916-918)Ccc>Tcc	p.P306S	BC036412_uc010ygp.1_Intron|BC036412_uc002qnp.1_Intron|PEG3_uc010ygr.1_Missense_Mutation_p.P102S|PEG3_uc010ygq.1_Missense_Mutation_p.P102S|PEG3_uc010etp.2_Missense_Mutation_p.P306S|PEG3_uc010ygs.1_Missense_Mutation_p.P306S|PEG3_uc002qnq.2_Missense_Mutation_p.P306S	NM_015363	NP_056178	Q9GZU2	PEG3_HUMAN	Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA.	456					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTTCCTGGGGATCCTTTCCT	0.453000														34			19		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846478	123846478	+	Missense_Mutation	SNP	C	T	T	rs138712565	byFrequency	TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:123846478C>T	uc001lfv.3	+	3	4823	c.4463C>T	c.(4462-4464)gCt>gTt	p.A1488V	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.A1488V|TACC2_uc010qtv.2_Missense_Mutation_p.A1488V	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1488						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCCCATCTGGCTCTGCAAGAT	0.597000														26			13		0	0	1	0	0
FBXW12	285231	broad.mit.edu	37	3	48419954	48419954	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:48419954C>T	uc003csr.3	+	5	739	c.553C>T	c.(553-555)Ccc>Tcc	p.P185S	FBXW12_uc010hjv.3_Missense_Mutation_p.P166S|FBXW12_uc003css.3_Intron|FBXW12_uc010hjw.3_Missense_Mutation_p.P84S|Metazoa_SRP_uc021wxm.1_5'Flank	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	Homo sapiens F-box and WD repeat domain containing 12 (FBXW12), transcript variant 1, mRNA.	185										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCTGTTCTCCCCATGCCACA	0.488000														28			7		0	0	1	0	0
TNFSF9	8744	broad.mit.edu	37	19	6534791	6534791	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:6534791C>T	uc002mfh.2	+	2	517	c.479C>T	c.(478-480)tCc>tTc	p.S160F		NM_003811	NP_003802	P41273	TNFL9_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.	160					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						GGCTCAGGCTCCGTTTCACTT	0.657000														4			7		0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43058294	43058294	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:43058294G>A	uc002xma.3	+	9	1503	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	HNF4A_uc002xlu.3_Missense_Mutation_p.E440K|HNF4A_uc002xlv.3_Missense_Mutation_p.E450K|HNF4A_uc010ggq.3_Missense_Mutation_p.E465K|HNF4A_uc002xlz.3_Missense_Mutation_p.E462K	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	472					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CACCAAGCAGGAAGTTATCTA	0.632000														84			30		0	0	1	0	0
BHMT2	23743	broad.mit.edu	37	5	78376564	78376564	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:78376564G>A	uc003kft.3	+	3	372	c.313G>A	c.(313-315)Ggt>Agt	p.G105S	BHMT2_uc011cth.2_Intron	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase 2 (BHMT2), transcript variant 1, mRNA.	105	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GGCTGGCAAAGGTGATGCTTT	0.458000														75			34		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103216014	103216014	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:103216014G>A	uc022ajr.1	-	28	4444	c.4284C>T	c.(4282-4284)ttC>ttT	p.F1428F	RELN_uc022ajq.1_Silent_p.F1428F|RELN_uc010liz.3_Silent_p.F1428F	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1428	EGF-like 3.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCAGGTCACAGAAACACACTC	0.428000														37			20		0	0	1	0	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53927521	53927521	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:53927521G>A	uc002rxi.4	-	7	1344	c.1239C>T	c.(1237-1239)aaC>aaT	p.N413N	GPR75-ASB3_uc021vhl.1_Silent_p.N302N|GPR75-ASB3_uc002rxg.2_Silent_p.N375N|GPR75-ASB3_uc002rxh.2_Silent_p.N302N|GPR75-ASB3_uc002rxf.2_Non-coding_Transcript	NM_001164165	NP_665862	Q2TAI4	Q2TAI4_HUMAN	Homo sapiens GPR75-ASB3 readthrough (GPR75-ASB3), mRNA.	410					intracellular signal transduction												CATATATATGGTTCCATGGTC	0.388000														52			16		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277454	152277454	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:152277454C>T	uc001ezu.1	-	2	9944	c.9908G>A	c.(9907-9909)gGa>gAa	p.G3303E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3303	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G3303R(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGCGGGATCCGTGTCTCTC	0.572000									Ichthyosis					404			333		0	0	1	0	0
S100A7	6278	broad.mit.edu	37	1	153431448	153431448	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:153431448G>A	uc001fbv.1	-	1	113	c.42C>T	c.(40-42)atC>atT	p.I14I		NM_002963	NP_002954	P31151	S10A7_HUMAN	Homo sapiens S100 calcium binding protein A7 (S100A7), mRNA.	14	EF-hand 1.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of T cell chemotaxis|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	RAGE receptor binding|calcium ion binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAAACATGTCGATCATGCCTA	0.418000														72			59		0	0	1	0	0
WRAP73	49856	broad.mit.edu	37	1	3566510	3566510	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:3566510C>T	uc001ako.3	-	0	162	c.54G>A	c.(52-54)ccG>ccA	p.P18P	WRAP73_uc001akn.3_Silent_p.P18P|WRAP73_uc010nzi.2_Silent_p.P18P|TP73_uc001akp.3_5'Flank|TP73_uc021ofb.1_5'Flank|TP73_uc021ofc.1_5'Flank|TP73_uc021ofd.1_5'Flank|TP73_uc021ofe.1_5'Flank|TP73_uc021off.1_5'Flank	NM_017818	NP_060288	Q9P2S5	WRP73_HUMAN	Homo sapiens WD repeat containing, antisense to TP73 (WRAP73), mRNA.	18						centrosome	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						ACTTGCCGTCCGGGGAGAACT	0.721000														22			7		0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54926111	54926111	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:54926111G>A	uc002iur.3	+	5	1123	c.943G>A	c.(943-945)Gat>Aat	p.D315N	DGKE_uc002ius.1_Missense_Mutation_p.D315N	NM_003647	NP_003638	P52429	DGKE_HUMAN	Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.	315	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					AACAGGCAACGATCTATCCAA	0.398000														100			18		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131520820	131520820	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:131520820C>T	uc021voy.1	+	0	1175	c.1175C>T	c.(1174-1176)tCg>tTg	p.S392L	FAM123C_uc002trw.2_Missense_Mutation_p.S392L|FAM123C_uc010fmv.2_Missense_Mutation_p.S392L|FAM123C_uc010fms.1_Missense_Mutation_p.S392L|FAM123C_uc010fmt.1_Missense_Mutation_p.S392L|FAM123C_uc010fmu.1_Missense_Mutation_p.S392L	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	392										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GATTCCTTCTCGCCAGGACTT	0.622000														30			14		0	0	1	0	0
TMEM74	157753	broad.mit.edu	37	8	109796925	109796925	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:109796925G>A	uc003ymy.1	-	1	508	c.403C>T	c.(403-405)Cac>Tac	p.H135Y	TMEM74_uc003ymx.3_Intron|TMEM74_uc022azr.1_Missense_Mutation_p.H135Y	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	Homo sapiens transmembrane protein 74 (TMEM74), mRNA.	135					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TCCCCAGGGTGATTATGCCCT	0.483000														75			24		0	0	1	0	0
TNFSF15	9966	broad.mit.edu	37	9	117553057	117553057	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:117553057G>A	uc004bjh.3	-	3	547	c.431C>T	c.(430-432)tCg>tTg	p.S144L	TNFSF15_uc004bjg.3_Missense_Mutation_p.S85L	NM_005118	NP_005109	O95150	TNF15_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 15 (TNFSF15), transcript variant 1, mRNA.	144					activation of NF-kappaB-inducing kinase activity|activation of caspase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	p.S144L(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						GTAGTCTCCCGACTCTGGGAT	0.498000														37			14		0	0	1	0	0
APAF1	317	broad.mit.edu	37	12	99056253	99056253	+	Missense_Mutation	SNP	G	C	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:99056253G>C	uc001tfz.3	+	5	1307	c.730G>C	c.(730-732)Gat>Cat	p.D244H	APAF1_uc001tfy.3_Missense_Mutation_p.D233H|APAF1_uc001tga.3_Missense_Mutation_p.D233H|APAF1_uc001tgb.3_Missense_Mutation_p.D244H|APAF1_uc001tgc.3_Missense_Mutation_p.D244H	NM_181861	NP_863651	O14727	APAF_HUMAN	Homo sapiens apoptotic peptidase activating factor 1 (APAF1), transcript variant 3, mRNA.	244	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	Golgi apparatus|cytosol|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GATCTTGGATGATGTTTGGGA	0.348000														36			20		0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65209911	65209911	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:65209911C>T	uc001xhp.2	+	16	3552	c.3513C>T	c.(3511-3513)gtC>gtT	p.V1171V	PLEKHG3_uc001xhn.1_Silent_p.V994V|PLEKHG3_uc001xho.1_Silent_p.V1050V|PLEKHG3_uc010aqh.1_Silent_p.V592V|PLEKHG3_uc001xhq.1_Silent_p.V555V	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	1050					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGCCCGACGTCCGTGAGCTCT	0.731000														102			36		0	0	1	0	0
CA12	771	broad.mit.edu	37	15	63631025	63631025	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:63631025G>A	uc002amc.3	-	7	1023	c.867C>T	c.(865-867)ttC>ttT	p.F289F	CA12_uc002amd.3_Silent_p.F289F|CA12_uc002ame.3_Silent_p.F229F	NM_001218	NP_001209	O43570	CAH12_HUMAN	Homo sapiens carbonic anhydrase XII (CA12), transcript variant 1, mRNA.	289					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	CACCTTGGGAGAAGGAGGTGT	0.572000														44			29		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55112234	55112234	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:55112234C>T	uc002qgh.1	+	9	1604	c.1422C>T	c.(1420-1422)gtC>gtT	p.V474V		NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	474					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TCCTGGTGGTCCTCGGGATTC	0.562000														31			19		0	0	1	0	0
ABLIM3	22885	broad.mit.edu	37	5	148617105	148617105	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:148617105C>T	uc003lpy.2	+	10	1234	c.983C>T	c.(982-984)tCc>tTc	p.S328F	ABLIM3_uc003lpz.1_Missense_Mutation_p.S328F|ABLIM3_uc003lqa.1_Intron|ABLIM3_uc003lqb.3_Intron|ABLIM3_uc003lqc.1_Missense_Mutation_p.S328F|ABLIM3_uc003lqd.1_Intron|ABLIM3_uc003lqe.1_Intron|ABLIM3_uc003lqf.3_Intron	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	328					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCTCATTTCCTATGAGCCT	0.498000														64			30		0	0	1	0	0
LRRC31	79782	broad.mit.edu	37	3	169572722	169572722	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:169572722G>A	uc003fgc.1	-	5	935	c.870C>T	c.(868-870)tcC>tcT	p.S290S	LRRC31_uc010hwp.1_Silent_p.S234S	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.	290										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CCTTATTGCAGGAAAGATCTA	0.448000														55			13		0	0	1	0	0
OR1D5	8386	broad.mit.edu	37	17	2966353	2966353	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:2966353G>A	uc021tns.1	-	0	549	c.549C>T	c.(547-549)atC>atT	p.I183I		NM_014566	NP_055381	P58170	OR1D5_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 5 (OR1D5), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|lung(10)	11						GCCACAGCAGGATGTACATGT	0.542000														20			5		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139908469	139908469	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:139908469G>A	uc004ckm.1	-	27	4399	c.4349C>T	c.(4348-4350)tCg>tTg	p.S1450L	ABCA2_uc022bpy.1_Missense_Mutation_p.S1351L|ABCA2_uc022bpz.1_Missense_Mutation_p.S1421L|ABCA2_uc011mem.1_Missense_Mutation_p.S1420L|ABCA2_uc004ckl.1_Missense_Mutation_p.S1351L|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	1420					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCCGACCCTCGACAGGGCCTC	0.687000														36			17		0	0	1	0	0
HSP90AB3P	3327	broad.mit.edu	37	4	88813726	88813726	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:88813726G>A	uc010iko.1	+	1	670	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		taaagatgacgaagaaaagcc	0.388000														9			8		0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1513903	1513903	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:1513903C>T	uc003wpl.3	+	2	1142	c.1045C>T	c.(1045-1047)Ccc>Tcc	p.P349S	DLGAP2_uc003wpm.3_Missense_Mutation_p.P349S	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	428					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGAGGAGATTCCCTGCAGGAG	0.537000														25			8		0	0	1	0	0
OR52K1	390036	broad.mit.edu	37	11	4510277	4510277	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:4510277C>T	uc001lza.2	+	0	169	c.147C>T	c.(145-147)ttC>ttT	p.F49F		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA.	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L48F(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCCTTCTCTTCATTATCCAGG	0.498000														78			34		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28586945	28586945	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:28586945C>T	uc002kwj.4	-	11	1971	c.1816G>A	c.(1816-1818)Gct>Act	p.A606T	DSC3_uc002kwi.4_Missense_Mutation_p.A606T	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	606	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.A606T(2)|p.G605*(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TAAAATGGAGCTCCATGGACA	0.348000														24			7		0	0	1	0	0
FOS	2353	broad.mit.edu	37	14	75747713	75747713	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:75747713C>T	uc001xrn.3	+	3	934	c.729C>T	c.(727-729)ctC>ctT	p.L243L	FOS_uc010tva.2_Silent_p.L207L|FOS_uc010asi.3_Silent_p.L129L	NM_005252	NP_005243	P01100	FOS_HUMAN	Homo sapiens FBJ murine osteosarcoma viral oncogene homolog (FOS), mRNA.	243					DNA methylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|SMAD protein signal transduction|Toll signaling pathway|cellular response to reactive oxygen species|inflammatory response|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		R-SMAD binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		CCCTGCCTCTCCTCAATGACC	0.587000														61			34		0	0	1	0	0
FANCE	2178	broad.mit.edu	37	6	35423760	35423760	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:35423760G>A	uc003oko.1	+	1	670	c.485G>A	c.(484-486)aGa>aAa	p.R162K	FANCE_uc010jvw.1_Missense_Mutation_p.R162K	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Homo sapiens Fanconi anemia, complementation group E (FANCE), mRNA.	162	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						AGATGCCAGAGACAGCTCCAA	0.612000			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					33			11		0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030052	95030052	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:95030052C>T	uc010avd.3	+	1	618	c.344C>T	c.(343-345)tCc>tTc	p.S115F	SERPINA4_uc001ydk.3_Missense_Mutation_p.S78F|SERPINA4_uc001ydl.3_Missense_Mutation_p.S78F	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	78					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		ATCTTTTTCTCCCCGCTGAGC	0.617000														36			15		0	0	1	0	0
IMMP2L	83943	broad.mit.edu	37	7	111127313	111127313	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:111127313C>T	uc003vfq.2	-	2	663	c.220G>A	c.(220-222)Ggt>Agt	p.G74S	IMMP2L_uc010ljr.2_Missense_Mutation_p.G74S|IMMP2L_uc003vfr.3_Missense_Mutation_p.G74S	NM_032549	NP_115938	Q96T52	IMP2L_HUMAN	Homo sapiens IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) (IMMP2L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	74					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		ACAATGTCACCACGGTGTACT	0.363000														56			17		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78443472	78443472	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:78443472G>A	uc001ozl.4	-	20	3490	c.3027C>T	c.(3025-3027)ccC>ccT	p.P1009P		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1009					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GGTCACAGCTGGGAATCTCAT	0.557000														22			14		0	0	1	0	0
TBC1D25	4943	broad.mit.edu	37	X	48418269	48418269	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:48418269C>T	uc011mmb.1	+	5	1071	c.985C>T	c.(985-987)Cac>Tac	p.H329Y	TBC1D25_uc004dka.1_Missense_Mutation_p.H325Y|TBC1D25_uc011mly.1_Missense_Mutation_p.H267Y|TBC1D25_uc004dkb.1_Missense_Mutation_p.H71Y|TBC1D25_uc011mlz.1_Missense_Mutation_p.H71Y|TBC1D25_uc011mma.1_Missense_Mutation_p.H71Y|TBC1D25_uc004dkc.1_Missense_Mutation_p.H71Y|TBC1D25_uc011mmd.1_Missense_Mutation_p.H71Y|TBC1D25_uc011mmc.1_Missense_Mutation_p.H71Y	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	Homo sapiens TBC1 domain family, member 25 (TBC1D25), mRNA.	325	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TGCCGTTACCCACCCACAGGT	0.607000														10			9		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38951199	38951199	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:38951199G>A	uc002oit.3	+	19	2675	c.2545G>A	c.(2545-2547)Gac>Aac	p.D849N	RYR1_uc002oiu.3_Missense_Mutation_p.D849N	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	849	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTCACACACCGACTTCGTGCC	0.642000														67			27		0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14980651	14980652	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:14980651_14980652CC>TT	uc002dcv.3	+	27	3322_3323	c.3256_3257CC>TT	c.(3256-3258)cca>TTa	p.P1086L		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	1086						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	p.P1086P(1)		endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CCTCGACAATCCAATCCAGACA	0.475000														59			20		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084518	53084518	+	Silent	SNP	C	A	A	rs149814559		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:53084518C>A	uc003xqz.2	-	4	1059	c.903G>T	c.(901-903)ggG>ggT	p.G301G	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.G266G|ST18_uc011lds.1_Silent_p.G206G|ST18_uc003xra.2_Silent_p.G301G|ST18_uc003xrb.2_Silent_p.G301G	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	301						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AACTTAAATTCCCCTTGGCCT	0.527000														36			54		1.11015e-26	1.13377e-26	1	1	0
ACSL4	2182	broad.mit.edu	37	X	108925960	108925960	+	Missense_Mutation	SNP	A	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:108925960A>T	uc004eoi.2	-	4	1022	c.517T>A	c.(517-519)Tac>Aac	p.Y173N	ACSL4_uc004eoj.2_Missense_Mutation_p.Y132N|ACSL4_uc004eok.2_Missense_Mutation_p.Y132N|ACSL4_uc010npp.1_Missense_Mutation_p.Y173N	NM_022977	NP_004449	O60488	ACSL4_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 4 (ACSL4), transcript variant 2, mRNA.	173					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	GGAAAGTTGTACTTAAAGCAG	0.468000														15			51		0	0	1	0	0
MED6	10001	broad.mit.edu	37	14	71064454	71064454	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:71064454G>A	uc010tth.2	-	1	93	c.63C>T	c.(61-63)atC>atT	p.I21I	MED6_uc001xmf.3_Silent_p.I21I|MED6_uc010tti.2_Silent_p.I21I|MED6_uc001xmg.1_Silent_p.I21I|MED6_uc010ttj.2_Silent_p.I21I	NM_005466	NP_005457	O75586	MED6_HUMAN	Homo sapiens mediator complex subunit 6 (MED6), mRNA.	21					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity			large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		TCAAAATAGGGATCCAAGAGC	0.358000														37			13		0	0	1	0	0
TWISTNB	221830	broad.mit.edu	37	7	19748471	19748471	+	Missense_Mutation	SNP	T	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:19748471T>A	uc003sup.1	-	0	190	c.169A>T	c.(169-171)Atc>Ttc	p.I57F		NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN	Homo sapiens TWIST neighbor (TWISTNB), mRNA.	57						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GACAGCGCGATGTGCCTTTGG	0.592000											OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		31			17		0	0	1	0	0
MSMO1	6307	broad.mit.edu	37	4	166263024	166263024	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:166263024C>T	uc003ire.3	+	5	938	c.808C>T	c.(808-810)Cga>Tga	p.R270*	MSMO1_uc003irf.3_Nonsense_Mutation_p.R139*	NM_006745	NP_006736	Q15800	ERG25_HUMAN	Homo sapiens methylsterol monooxygenase 1 (MSMO1), transcript variant 1, mRNA.	270					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding									NADH(DB00157)	ATGGTGGGATCGAATTTTTGG	0.373000														36			14		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474984	140474984	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:140474984C>T	uc003lil.3	+	0	748	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	204	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCCCTGGATCGCGAGGAGCA	0.507000														18			7		0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11053560	11053560	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:11053560C>T	uc002rax.3	+	0	1498	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	336						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		TGGGTATCTTCGTCTTCTCTG	0.597000														33			14		0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45221066	45221066	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:45221066G>A	uc002xsf.2	-	5	937	c.897C>T	c.(895-897)ttC>ttT	p.F299F	SLC13A3_uc010ghn.2_Silent_p.F268F|SLC13A3_uc010zxx.2_Silent_p.F201F|SLC13A3_uc010zxw.2_Silent_p.F249F|SLC13A3_uc002xsg.2_Silent_p.F252F|SLC13A3_uc010gho.2_Silent_p.F252F	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	299						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CCCCGTACAGGAAGGAGATCC	0.502000														33			8		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33135091	33135091	+	Nonsense_Mutation	SNP	G	A	A	rs150784358	byFrequency	TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:33135091G>A	uc003ocx.1	-	56	4354	c.4126C>T	c.(4126-4128)Cag>Tag	p.Q1376*	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Nonsense_Mutation_p.Q1290*|COL11A2_uc003ocz.1_Nonsense_Mutation_p.Q1269*	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1376	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CGGCCTTGCTGACCCTGAAGA	0.672000														45			11		0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50209489	50209489	+	Splice_Site	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:50209489G>A	uc010eng.3	+	12	1477	c.1161_splice	c.e12-1	p.R387_splice	CPT1C_uc002ppl.4_Splice_Site_p.R353_splice|CPT1C_uc002ppi.3_Splice_Site_p.R304_splice|CPT1C_uc002ppk.3_Splice_Site_p.R376_splice|CPT1C_uc010enh.3_Splice_Site_p.R387_splice|CPT1C_uc002ppj.3_Splice_Site_p.R387_splice|CPT1C_uc010ybc.1_Splice_Site_p.R258_splice|CPT1C_uc010eni.1_Splice_Site_p.R44_splice	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	387					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GCCCTCCAGGGGCACGTGGGC	0.687000														16			11		0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54970422	54970422	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:54970422C>T	uc001sgd.2	+	13	1837	c.1444C>T	c.(1444-1446)Cgt>Tgt	p.R482C	PDE1B_uc010soz.2_Missense_Mutation_p.R345C|PDE1B_uc010spa.1_Missense_Mutation_p.R441C|PDE1B_uc001sge.3_Missense_Mutation_p.R462C|PDE1B_uc001sgf.3_Missense_Mutation_p.R345C|PDE1B_uc009znq.3_Missense_Mutation_p.R278C	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	482	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						GGTCAGCTTTCGTTCCACCTG	0.562000														15			11		0	0	1	0	0
ATP2A3	489	broad.mit.edu	37	17	3851045	3851045	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:3851045C>T	uc002fwy.2	-	7	908	c.735G>A	c.(733-735)gaG>gaA	p.E245E	ATP2A3_uc002fwz.2_Silent_p.E245E|ATP2A3_uc002fxa.2_Silent_p.E245E|ATP2A3_uc002fxb.2_Silent_p.E245E|ATP2A3_uc002fxc.2_Silent_p.E245E|ATP2A3_uc002fxd.2_Silent_p.E245E|ATP2A3_uc002fwx.2_Silent_p.E245E	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	245					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCGGCGTCCGCTCGGGCTCGA	0.657000														33			13		0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79351610	79351610	+	Missense_Mutation	SNP	A	G	G	rs144319149		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:79351610A>G	uc021yaw.1	+	2	486	c.295A>G	c.(295-297)Atc>Gtc	p.I99V		NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	99	TSP N-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GCTTCCAGCCATCCTCCGTTA	0.542000														196			80		0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42964944	42964944	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:42964944G>A	uc003gwt.3	+	1	421	c.420G>A	c.(418-420)gtG>gtA	p.V140V		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	140	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	p.V140V(2)|p.V139L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						ACCGTGTAGTGATTTATACCA	0.368000														112			44		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640343	179640343	+	Missense_Mutation	SNP	C	T	T	rs72647879		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:179640343C>T	uc021vsy.1	-	27	6473	c.6248G>A	c.(6247-6249)aGa>aAa	p.R2083K	TTN_uc021vsz.1_Missense_Mutation_p.R2037K|TTN_uc021vta.1_Missense_Mutation_p.R2037K|TTN_uc021vtb.1_Missense_Mutation_p.R2037K|TTN_uc002unb.2_Missense_Mutation_p.R2083K|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2083	Ig-like 10.						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)			GCTCTGGATTCTTTCGAAGAT	0.458000														35			16		0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48173134	48173134	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:48173134G>A	uc002efc.1	-	4	1117	c.771C>T	c.(769-771)ttC>ttT	p.F257F	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Silent_p.F257F|ABCC12_uc010vgj.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	257	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GCCCCAGAATGAAAAAGGCGT	0.473000														61			26		0	0	1	0	0
OR6X1	390260	broad.mit.edu	37	11	123624517	123624517	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:123624517G>A	uc010rzy.2	-	0	710	c.710C>T	c.(709-711)tCt>tTt	p.S237F		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F236L(1)		breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GGCACAGGTAGAGAAAGTCTT	0.463000														54			20		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408602	105408602	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:105408602G>A	uc010axc.1	-	6	13306	c.13186C>T	c.(13186-13188)Ctc>Ttc	p.L4396F	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.L4296F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4396						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)			GGACCCTTGAGGTCCACTTTG	0.597000														88			47		0	0	1	0	0
AGT	183	broad.mit.edu	37	1	230846195	230846195	+	Silent	SNP	G	A	A	rs11557885		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:230846195G>A	uc001hty.4	-	1	910	c.402C>T	c.(400-402)ctC>ctT	p.L134L	AGT_uc009xff.3_Silent_p.L106L	NM_000029	NP_000020	P01019	ANGT_HUMAN	Homo sapiens angiotensinogen (serpin peptidase inhibitor, clade A, member 8) (AGT), mRNA.	134					G-protein signaling, coupled to cGMP nucleotide second messenger|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	CCGTTGGGGAGAGGACGGTGG	0.597000														121			39		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183721336	183721336	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:183721336G>A	uc003ivd.1	+	26	8007	c.7932G>A	c.(7930-7932)gaG>gaA	p.E2644E		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2644					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GCGACGGCGAGGAGGGCGCGC	0.736000														8			4		0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012221	29012221	+	Missense_Mutation	SNP	A	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:29012221A>T	uc003nlw.2	-	0	732	c.732T>A	c.(730-732)caT>caA	p.H244Q	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CTACAGTAAGATGAGATCCAC	0.428000														77			21		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52320684	52320684	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:52320684T>C	uc003xqu.4	-	16	3601	c.3500A>G	c.(3499-3501)aAc>aGc	p.N1167S	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1167					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATCCTCAAAGTTCTTAACTGA	0.393000														39			16		0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38911122	38911122	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:38911122G>A	uc002hve.3	-	0	463	c.402C>T	c.(400-402)ttC>ttT	p.F134F		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	134	Linker 1.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CAATTATTGGGAAATATCTGC	0.378000														66			21		0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91292831	91292831	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:91292831C>T	uc002bpr.3	+	2	430	c.333C>T	c.(331-333)ttC>ttT	p.F111F	BLM_uc010uqh.2_Silent_p.F111F|BLM_uc010uqi.2_5'UTR|BLM_uc010bnx.3_Silent_p.F111F	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	111					G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TGCCAGATTTCTTGCAGACTC	0.418000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					38			21		0	0	1	0	0
LUC7L2	51631	broad.mit.edu	37	7	139092034	139092034	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:139092034C>T	uc011kqt.2	+	6	1057	c.823C>T	c.(823-825)Cat>Tat	p.H275Y	LUC7L2_uc011kqs.2_Missense_Mutation_p.H206Y|LUC7L2_uc003vuy.3_Missense_Mutation_p.H208Y|LUC7L2_uc003vux.3_Missense_Mutation_p.H209Y|LUC7L2_uc003vuz.1_Missense_Mutation_p.H156Y|LUC7L2_uc003vva.3_Missense_Mutation_p.H156Y	NM_001244584	NP_001231513	Q9Y383	LC7L2_HUMAN	Homo sapiens LUC7-like 2 (S. cerevisiae) (LUC7L2), transcript variant 2, mRNA.	209	Arg/Ser-rich.						enzyme binding|metal ion binding			NS(2)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	16	Melanoma(164;0.242)					ACTGGCTGATCATTTTGGGGG	0.398000														36			9		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168201342	168201342	+	Missense_Mutation	SNP	G	T	T	rs151037148	byFrequency	TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:168201342G>T	uc010jjg.3	-	12	1613	c.1193C>A	c.(1192-1194)aCg>aAg	p.T398K	SLIT3_uc003mab.3_Missense_Mutation_p.T398K|SLIT3_uc010jji.2_Missense_Mutation_p.T398K|SLIT3_uc003mac.1_Missense_Mutation_p.T195K	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	398					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCCTGAAACGTGTTCACCCG	0.532000														140			69		3.48418e-26	3.55471e-26	1	1	0
OR6C3	254786	broad.mit.edu	37	12	55726260	55726260	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:55726260C>T	uc010spj.2	+	0	776	c.776C>T	c.(775-777)cCa>cTa	p.P259L		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TATGCTAATCCATCTGCAAAA	0.398000														26			13		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96021332	96021332	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:96021332C>T	uc004ati.1	+	10	2502	c.2502C>T	c.(2500-2502)ttC>ttT	p.F834F	WNK2_uc011lud.1_Silent_p.F834F|WNK2_uc004atj.3_Silent_p.F834F|WNK2_uc004atk.3_Silent_p.F471F|WNK2_uc010mrc.1_Silent_p.F782F	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	834					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CTCAGTATTTCTCTCCAGCCG	0.711000														42			19		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89357037	89357037	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:89357037G>A	uc002fmx.1	-	5	1058	c.597C>T	c.(595-597)ttC>ttT	p.F199F	ANKRD11_uc002fmy.1_Silent_p.F199F|ANKRD11_uc002fnc.1_Silent_p.F199F|ANKRD11_uc002fnd.3_Silent_p.F165F|ANKRD11_uc002fne.3_Silent_p.F165F|ANKRD11_uc002fnb.1_Silent_p.F156F	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	199						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCCCACCTGCGAAGTCCTTGA	0.687000														49			20		0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172165900	172165900	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:172165900G>A	uc003fib.2	-	0	347	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	GHSR_uc011bpv.2_Missense_Mutation_p.R102C	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	102					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGCCAGAGGCGAACGAGGTCC	0.612000														39			16		0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3215455	3215455	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:3215455G>A	uc010zqe.2	-	2	428	c.303C>T	c.(301-303)tcC>tcT	p.S101S	SLC4A11_uc002wig.3_Silent_p.S74S|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Silent_p.S58S	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	74					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CAGACACGATGGAGGAGTTGG	0.562000														58			14		0	0	1	0	0
PRSS48	345062	broad.mit.edu	37	4	152204388	152204388	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:152204388G>A	uc011cif.2	+	3	601	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	PRSS48_uc011cig.2_Missense_Mutation_p.E58K	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN	Homo sapiens protease, serine, 48 (PRSS48), mRNA.	201	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						AGTCATCAAGGAAGACAAGAT	0.428000														54			33		0	0	1	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261893	21261893	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:21261893G>A	uc010bwp.1	+	1	1049	c.1006G>A	c.(1006-1008)Gtg>Atg	p.V336M	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.	336										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		TGACGATGAAGTGGAGTGGGA	0.527000														30			6		0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114394648	114394648	+	Splice_Site	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:114394648C>T	uc001eds.3	-	10	958	c.828_splice	c.e10+1	p.Q276_splice	PTPN22_uc021orx.1_Splice_Site_p.Q276_splice|PTPN22_uc009wgq.3_Intron|PTPN22_uc021ory.1_Splice_Site_p.Q252_splice|PTPN22_uc010owo.2_Splice_Site_p.Q32_splice|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Splice_Site_p.Q276_splice|PTPN22_uc009wgs.2_Splice_Site_p.Q149_splice|PTPN22_uc001edu.2_Splice_Site_p.Q276_splice	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	276	Tyrosine-protein phosphatase.				T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAGTTCATACCTGCGTTTGA	0.408000														14			6		0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65474949	65474949	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:65474949C>T	uc011moz.2	+	15	2935	c.2798C>T	c.(2797-2799)tCc>tTc	p.S933F	HEPH_uc004dwn.3_Missense_Mutation_p.S882F|HEPH_uc004dwo.3_Missense_Mutation_p.S612F|HEPH_uc010nkr.3_Missense_Mutation_p.S690F|HEPH_uc011mpa.2_Missense_Mutation_p.S882F|HEPH_uc010nks.3_Missense_Mutation_p.S171F	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	879	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GCTTGTGTTTCCTGGATCTAT	0.483000														8			16		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74005421	74005421	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:74005421C>T	uc010wss.1	-	21	4159	c.3931G>A	c.(3931-3933)Gag>Aag	p.E1311K	EVPL_uc002jqi.2_Missense_Mutation_p.E1289K|EVPL_uc010wst.1_Missense_Mutation_p.E759K	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1289	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						ATGAGCTGCTCCTGGGAGCGC	0.667000														105			89		0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41791341	41791341	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:41791341G>A	uc010lxb.3	-	17	4941	c.4397C>T	c.(4396-4398)cCt>cTt	p.P1466L	KAT6A_uc010lxc.3_Missense_Mutation_p.P1466L|KAT6A_uc003xon.4_Missense_Mutation_p.P1466L	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	1466					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GGACATCTGAGGGTCCTCGTC	0.552000														86			33		0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192700954	192700954	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:192700954G>A	uc002utb.3	-	1	1328	c.973C>T	c.(973-975)Cca>Tca	p.P325S		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	325						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TGGTCATTTGGCATCTGCTCA	0.552000														53			34		0	0	1	0	0
TENC1	23371	broad.mit.edu	37	12	53454783	53454783	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:53454783C>T	uc001sbp.3	+	19	3228	c.3093C>T	c.(3091-3093)ccC>ccT	p.P1031P	TENC1_uc001sbl.3_Silent_p.P907P|TENC1_uc001sbn.3_Silent_p.P1041P|TENC1_uc001sbq.3_Silent_p.P429P|TENC1_uc001sbr.3_Non-coding_Transcript|TENC1_uc009zmr.3_Silent_p.P526P	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	1031	Pro-rich.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						ATGGGTCTCCCCTCACTCCTG	0.687000														14			6		0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125316085	125316085	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:125316085G>A	uc011lyx.2	+	0	637	c.637G>A	c.(637-639)Gag>Aag	p.E213K		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CCATGTAAACGAGCTGATGAT	0.517000														124			40		0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166991077	166991077	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:166991077C>T	uc001gdy.1	+	11	1361	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	MAEL_uc021peh.1_Silent_p.F374F|MAEL_uc001gdz.1_Silent_p.F399F|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	430					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACAAATCTTTCTCTTCCTTAT	0.363000														62			22		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56373427	56373427	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:56373427G>A	uc002qmd.4	+	4	2510	c.2088G>A	c.(2086-2088)ttG>ttA	p.L696L	NLRP4_uc002qmf.3_Silent_p.L621L|NLRP4_uc010etf.3_Silent_p.L527L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	696							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGCCAGACTTGAAATACCTGA	0.443000														42			24		0	0	1	0	0
GNL3	26354	broad.mit.edu	37	3	52721400	52721400	+	Splice_Site	SNP	G	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:52721400G>T	uc003dfd.3	+	3	383	c.210_splice	c.e3+1	p.R70_splice	PBRM1_uc003dey.2_5'Flank|GNL3_uc011beh.1_Splice_Site|GNL3_uc003dfe.3_Splice_Site_p.R58_splice|GNL3_uc003dff.3_Splice_Site_p.R58_splice|SNORD19_uc003dfg.1_5'Flank	NM_014366	NP_996562	Q9BVP2	GNL3_HUMAN	Homo sapiens guanine nucleotide binding protein-like 3 (nucleolar) (GNL3), transcript variant 1, mRNA.	70					regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		GAAACAGAGGGTAAGTTATGT	0.433000														70			32		2.75727e-19	2.80174e-19	1	1	0
DNAH8	1769	broad.mit.edu	37	6	38790794	38790794	+	Missense_Mutation	SNP	G	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:38790794G>T	uc021yzh.1	+	26	3813	c.3704G>T	c.(3703-3705)cGc>cTc	p.R1235L	DNAH8_uc003ooe.2_Missense_Mutation_p.R1018L	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACAGAGGACCGCGATGTGAAA	0.453000														34			10		4.3838e-07	4.41887e-07	1	1	0
NMNAT3	349565	broad.mit.edu	37	3	139346556	139346556	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:139346556C>T	uc003etj.3	-	0	51	c.11G>A	c.(10-12)cGa>cAa	p.R4Q	NMNAT3_uc010hul.3_Missense_Mutation_p.R4Q|NMNAT3_uc003etk.3_Intron|NMNAT3_uc003etl.3_Non-coding_Transcript	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA.	4					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						CACAGGTATTCGGCTCTTCAT	0.522000														9			5		0	0	1	0	0
CSN2	1447	broad.mit.edu	37	4	70823497	70823497	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:70823497G>A	uc003hes.4	-	4	183	c.170C>T	c.(169-171)cCc>cTc	p.P57L	CSN2_uc003het.4_Missense_Mutation_p.P56L	NM_001891	NP_001882	P05814	CASB_HUMAN	Homo sapiens casein beta (CSN2), mRNA.	57					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						CTGGAAAGAGGGGTAGATTTT	0.418000														52			25		0	0	1	0	0
TREML4	285852	broad.mit.edu	37	6	41204355	41204355	+	Splice_Site	SNP	G	A	A	rs2627578		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:41204355G>A	uc003oqc.3	+	5	742	c.638_splice	c.e5+1		TREML4_uc003oqd.3_Splice_Site	NM_198153	NP_937796	Q6UXN2	TRML4_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 4 (TREML4), mRNA.							extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					AGGTGCCACAGGTGAGGGGGC	0.582000														17			5		0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296244	39296244	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:39296244G>A	uc010cxk.2	-	0	496	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	162	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						cagcaggggcggcagcagcac	0.657000														29			5		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13864560	13864560	+	Silent	SNP	A	G	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:13864560A>G	uc003jfd.2	-	27	4584	c.4542T>C	c.(4540-4542)ttT>ttC	p.F1514F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1514	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCTTAACTTAAAGCTTTCAT	0.453000									Kartagener syndrome					33			19		0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9496116	9496116	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:9496116C>T	uc002wni.2	+	1	576	c.81C>T	c.(79-81)atC>atT	p.I27I	LAMP5_uc010zrc.2_Silent_p.I27I	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.	27						integral to membrane											TGGCTCAAATCATGGCAGAAC	0.502000														60			22		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55620382	55620382	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:55620382G>A	uc003pcq.3	-	6	2026	c.1314C>T	c.(1312-1314)gtC>gtT	p.V438V	BMP5_uc011dxf.2_Silent_p.V401V	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	438					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTTTCAAAATGACATTGGAGC	0.348000														41			16		0	0	1	0	0
ACPL2	92370	broad.mit.edu	37	3	140997202	140997202	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:140997202C>T	uc003etu.3	+	4	397	c.98C>T	c.(97-99)tCg>tTg	p.S33L	ACPL2_uc003etv.3_Missense_Mutation_p.S33L|ACPL2_uc011bna.2_5'UTR|ACPL2_uc011bnb.2_Missense_Mutation_p.S16L	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	Homo sapiens acid phosphatase-like 2 (ACPL2), transcript variant 1, mRNA.	33						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						ATCCCGGTGTCGACTCCTAAG	0.567000														33			15		0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135796799	135796799	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:135796799G>A	uc004cca.2	-	7	922	c.688C>T	c.(688-690)Cat>Tat	p.H230Y	TSC1_uc004ccb.3_Missense_Mutation_p.H230Y|TSC1_uc011mcq.1_Missense_Mutation_p.H179Y|TSC1_uc011mcr.2_Missense_Mutation_p.H109Y|TSC1_uc011mcs.1_Missense_Mutation_p.H109Y|TSC1_uc004ccc.1_Missense_Mutation_p.H230Y|TSC1_uc004cce.1_Missense_Mutation_p.H230Y	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	230					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly	TSC1-TSC2 complex|cell cortex|lamellipodium|membrane	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		AATTCCGGATGAATTCGCACA	0.383000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					41			10		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38931480	38931480	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:38931480C>T	uc002oit.3	+	1	271	c.141C>T	c.(139-141)ttC>ttT	p.F47F	RYR1_uc002oiu.3_Silent_p.F47F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	47					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCCTGTGCTTCCTGGAGCCCA	0.652000														11			9		0	0	1	0	0
LCE3E	353145	broad.mit.edu	37	1	152538544	152538544	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:152538544G>A	uc021oyz.1	-	0	141	c.141C>T	c.(139-141)agC>agT	p.S47S	LCE3E_uc001faa.3_Silent_p.S47S	NM_178435	NP_848522	Q5T5B0	LCE3E_HUMAN	Homo sapiens late cornified envelope 3E (LCE3E), mRNA.	47					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		CGCCCTCGGAGCTAGGGCCAC	0.662000														79			18		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70852705	70852705	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:70852705G>A	uc003pfc.1	+	22	1736	c.1619G>A	c.(1618-1620)gGa>gAa	p.G540E	COL19A1_uc010kam.2_Missense_Mutation_p.G436E	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	540	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.P539T(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGACCGCCAGGAGATGTTGTA	0.358000														33			11		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106667824	106667824	+	RNA	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:106667824G>A	uc021ser.1	-	1314		c.27103C>T								Parts of antibodies, mostly variable regions.																		AGAGTCTCAGGGACCCCCCAG	0.592000														83			41		0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54753598	54753598	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:54753598C>T	uc002rxu.3	+	1	292	c.43C>T	c.(43-45)Cag>Tag	p.Q15*	SPTBN1_uc002rxv.1_Nonsense_Mutation_p.Q15*|SPTBN1_uc021vhp.1_Non-coding_Transcript|RPL23AP32_uc010yot.1_5'Flank	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	15	Actin-binding.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CATTGAGATCCAGCAGCAGTA	0.512000														42			19		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18025675	18025675	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:18025675C>T	uc021trm.1	+	0	3780	c.3561C>T	c.(3559-3561)tcC>tcT	p.S1187S	MYO15A_uc021trl.1_Silent_p.S1187S	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1187	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCTGCCTGTCCCTTAGGGGCT	0.637000														46			17		0	0	1	0	0
GABPB1	2553	broad.mit.edu	37	15	50592989	50592989	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:50592989G>A	uc001zyb.3	-	5	1154	c.730C>T	c.(730-732)Cca>Tca	p.P244S	GABPB1_uc001zya.3_Missense_Mutation_p.P232S|GABPB1_uc010ufg.2_Missense_Mutation_p.P168S|GABPB1_uc001zyd.3_Missense_Mutation_p.P232S|GABPB1_uc001zye.3_Missense_Mutation_p.P244S|GABPB1_uc001zyf.3_Missense_Mutation_p.P232S|GABPB1_uc001zyc.3_Missense_Mutation_p.P232S	NM_005254	NP_005245	Q06547	GABP1_HUMAN	Homo sapiens GA binding protein transcription factor, beta subunit 1 (GABPB1), transcript variant beta-1, mRNA.	244					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						TTCTAACCTGGAGTTTCTGAA	0.448000														20			15		0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	38997594	38997594	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr21:38997594G>A	uc011aej.1	-	3	1192	c.1139C>T	c.(1138-1140)cCc>cTc	p.P380L	KCNJ6_uc002ywo.2_Missense_Mutation_p.P380L	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	380					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CCAACTCAGGGGCAGCTCTGC	0.498000														36			37		0	0	1	0	0
SELL	6402	broad.mit.edu	37	1	169676541	169676541	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:169676541G>A	uc010pls.2	-	1	490	c.381C>T	c.(379-381)atC>atT	p.I127I	C1orf112_uc001ggj.3_Intron|SELL_uc001ggk.3_Silent_p.I187I|SELL_uc001ggl.2_Silent_p.I187I	NM_000655	NP_000646	P14151	LYAM1_HUMAN	Homo sapiens selectin L (SELL), transcript variant 1, mRNA.	174	C-type lectin.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					AATTATTGATGATTTCTACAC	0.398000														30			16		0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81554307	81554307	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:81554307G>A	uc001xvd.1	+	3	483	c.327G>A	c.(325-327)cgG>cgA	p.R109R	TSHR_uc001xvb.1_Silent_p.R109R|TSHR_uc001xvc.3_Silent_p.R109R|TSHR_uc010tvs.2_Silent_p.R109R	NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	109			R -> Q (in CHNG1).		cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GAGAAATTCGGAATACCAGGA	0.378000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							31			13		0	0	1	0	0
CNN2	1265	broad.mit.edu	37	19	1036204	1036204	+	Missense_Mutation	SNP	G	A	A	rs138515103		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:1036204G>A	uc002lqu.3	+	4	829	c.466G>A	c.(466-468)Gat>Aat	p.D156N	CNN2_uc002lqt.1_Intron|CNN2_uc010drz.1_Intron|CNN2_uc002lqv.3_Intron|CNN2_uc010xgb.2_Missense_Mutation_p.D145N|CNN2_uc010xgc.2_Missense_Mutation_p.D177N	NM_004368	NP_004359	Q99439	CNN2_HUMAN	Homo sapiens calponin 2 (CNN2), transcript variant 1, mRNA.	156					actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAATTTCGACGATGCCACCAT	0.657000														29			14		0	0	1	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123396863	123396863	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:123396863G>A	uc001pyw.2	+	0	336	c.7G>A	c.(7-9)Gga>Aga	p.G3R	GRAMD1B_uc001pyx.2_Missense_Mutation_p.G3R	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	Homo sapiens GRAM domain containing 1B (GRAMD1B), mRNA.	3						integral to membrane		p.K2*(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		ACTAATGAAAGGATTCAAGCT	0.527000														12			4		0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711531	155711531	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:155711531G>A	uc002tyv.1	+	2	1407	c.1212G>A	c.(1210-1212)caG>caA	p.Q404Q	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	404					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CTAAGCTGCAGAAAATTACTG	0.383000														64			28		0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102048209	102048209	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:102048209C>T	uc001kqx.1	-	15	2745	c.2362G>A	c.(2362-2364)Gcc>Acc	p.A788T	BLOC1S2_uc001kqv.1_5'Flank|BLOC1S2_uc001kqw.1_5'Flank|PKD2L1_uc009xwm.1_Missense_Mutation_p.A741T	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	788			A -> D (in dbSNP:rs12782963).		signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TCCTCTAAGGCTTCCTCTTCT	0.483000														47			43		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31319241	31319241	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:31319241C>T	uc010dmg.1	+	10	1928	c.1873C>T	c.(1873-1875)Ctg>Ttg	p.L625L	ASXL3_uc002kxq.2_Silent_p.L332L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	625	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTGTACCAGCCTGCCTTCTCC	0.483000														21			4		0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234344552	234344552	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:234344552C>T	uc002vui.1	+	5	687	c.675C>T	c.(673-675)atC>atT	p.I225I	DGKD_uc002vuj.1_Silent_p.I181I|DGKD_uc010fyh.1_Silent_p.I92I|DGKD_uc010fyi.1_5'Flank|DGKD_uc002vuk.1_Silent_p.I92I	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	225					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)	GGAAGGACATCATTGAAGATG	0.567000														36			15		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164748	139164748	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:139164748G>A	uc003yuy.3	-	12	2141	c.1970C>T	c.(1969-1971)tCc>tTc	p.S657F	FAM135B_uc003yux.3_Missense_Mutation_p.S558F|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.S219F|FAM135B_uc003yvb.3_Missense_Mutation_p.S219F	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	657										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTCCTTTAGGGAAGACCTAAT	0.493000										HNSCC(54;0.14)				40			35		0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47912473	47912473	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:47912473G>A	uc003csb.2	-	12	3215	c.2689C>T	c.(2689-2691)Cgg>Tgg	p.R897W	MAP4_uc003csc.3_Missense_Mutation_p.R897W|MAP4_uc003crw.2_Missense_Mutation_p.R29W|MAP4_uc003crx.2_Missense_Mutation_p.R157W|MAP4_uc011bbe.1_Missense_Mutation_p.R648W|MAP4_uc003csa.3_Missense_Mutation_p.R632W|MAP4_uc003crz.4_Non-coding_Transcript|MAP4_uc003csd.2_Missense_Mutation_p.R632W	NM_002375	NP_002366	P27816	MAP4_HUMAN	Homo sapiens microtubule-associated protein 4 (MAP4), transcript variant 1, mRNA.	897					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		GTGGAGGGCCGGGAGGGCATG	0.632000														54			32		0	0	1	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156726369	156726369	+	Silent	SNP	T	C	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:156726369T>C	uc003ipc.3	+	12	1991	c.1824T>C	c.(1822-1824)aaT>aaC	p.N608N	GUCY1B3_uc011cio.2_Silent_p.N630N|GUCY1B3_uc011cip.2_Silent_p.N588N|GUCY1B3_uc003ipd.3_Silent_p.N536N|GUCY1B3_uc010iqf.3_Silent_p.N575N|GUCY1B3_uc010iqg.3_Silent_p.N579N|GUCY1B3_uc011ciq.2_Silent_p.N536N	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	Homo sapiens guanylate cyclase 1, soluble, beta 3 (GUCY1B3), mRNA.	608					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		CCAGAAAAAATACAGGAACAG	0.363000														12			7		0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79366551	79366551	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:79366551G>A	uc021yaw.1	+	11	1729	c.1538G>A	c.(1537-1539)gGa>gAa	p.G513E	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	513					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GATGCTGACGGAGATGGGATC	0.517000														39			22		0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28380765	28380765	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:28380765C>T	uc002het.3	+	9	1985	c.1793C>T	c.(1792-1794)tCa>tTa	p.S598L	EFCAB5_uc010wbi.1_Missense_Mutation_p.S341L|EFCAB5_uc010wbj.2_Missense_Mutation_p.S542L|EFCAB5_uc010wbk.2_Missense_Mutation_p.S255L|EFCAB5_uc010csd.3_Non-coding_Transcript|EFCAB5_uc010cse.3_Missense_Mutation_p.S477L|EFCAB5_uc010csf.3_Missense_Mutation_p.S477L	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	598							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GAACAAGGATCAAGCAGAGAG	0.468000														150			36		0	0	1	0	0
ZNF613	79898	broad.mit.edu	37	19	52447671	52447671	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:52447671C>T	uc002pxz.2	+	5	999	c.535C>T	c.(535-537)Ccc>Tcc	p.P179S	ZNF613_uc002pya.2_Missense_Mutation_p.P143S	NM_001031721	NP_079116	Q6PF04	ZN613_HUMAN	Homo sapiens zinc finger protein 613 (ZNF613), transcript variant 1, mRNA.	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P179P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AATGAACTTCCCCGAAGGTGG	0.393000														109			51		0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361681	105361681	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:105361681C>T	uc003ylx.1	+	1	950	c.901C>T	c.(901-903)Ctt>Ttt	p.L301F		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	301					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											CCTCCCCATACTTATCCATCT	0.478000														174			52		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50149125	50149125	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:50149125G>A	uc021vhh.1	-	20	5312	c.4391C>T	c.(4390-4392)tCc>tTc	p.S1464F	NRXN1_uc010fbp.3_Missense_Mutation_p.S429F|NRXN1_uc002rxb.4_Missense_Mutation_p.S1163F|NRXN1_uc021vhg.1_Missense_Mutation_p.S1534F|NRXN1_uc021vhi.1_Missense_Mutation_p.S1530F|NRXN1_uc021vhj.1_Missense_Mutation_p.S1460F|NRXN1_uc002rxa.4_Missense_Mutation_p.S126F|NRXN1_uc010yon.2_Missense_Mutation_p.S129F	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	1464					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.S1535Y(1)|p.S429Y(1)|p.S1464Y(1)|p.S1534Y(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATTTTTGTTGGAGCTTTTCGC	0.393000														25			15		0	0	1	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144060446	144060446	+	Missense_Mutation	SNP	A	C	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:144060446A>C	uc003wel.3	+	1	802	c.684A>C	c.(682-684)caA>caC	p.Q228H	ARHGEF5_uc003wek.3_Missense_Mutation_p.Q228H	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	228					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					AGGAGGTCCAAGTTCTGGAGG	0.562000														99			19		0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75407251	75407251	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:75407251G>A	uc004aiz.1	+	16	2089	c.1549G>A	c.(1549-1551)Gaa>Aaa	p.E517K	TMC1_uc010moz.1_Missense_Mutation_p.E475K|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.E371K|TMC1_uc010mpa.1_Missense_Mutation_p.E371K	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	517					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						ACCTTGCTGGGAAACAATGGT	0.413000														105			40		0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97868450	97868450	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:97868450C>T	uc003dsg.1	+	0	221	c.221C>T	c.(220-222)tCa>tTa	p.S74L		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCTTTGTTATCATCCTCAGTG	0.398000														124			45		0	0	1	0	0
CMKLR1	1240	broad.mit.edu	37	12	108685663	108685663	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:108685663C>T	uc009zuw.3	-	2	1268	c.1077G>A	c.(1075-1077)atG>atA	p.M359I	CMKLR1_uc001tmw.3_Missense_Mutation_p.M359I|CMKLR1_uc001tmv.3_Missense_Mutation_p.M357I|CMKLR1_uc009zuv.3_Missense_Mutation_p.M359I|CMKLR1_uc021rdj.1_Missense_Mutation_p.M357I	NM_001142345	NP_004063	Q99788	CML1_HUMAN	Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA.	359					chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						TCCTCTCATTCATTGATGACA	0.502000														49			28		0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91727471	91727471	+	Splice_Site	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:91727471C>T	uc004aqf.2	-	2	852	c.545_splice	c.e2+1	p.R182_splice		NM_016848	NP_058544	Q92529	SHC3_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA.	182	PID.				Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						GAGGGCTTACCTGGTAATTTG	0.428000														42			10		0	0	1	0	0
HOXC11	3227	broad.mit.edu	37	12	54367532	54367532	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:54367532C>T	uc001sem.3	+	0	623	c.507C>T	c.(505-507)ccC>ccT	p.P169P		NM_014212	NP_055027	O43248	HXC11_HUMAN	Homo sapiens homeobox C11 (HOXC11), mRNA.	169					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						CCGCCGAGCCCCCCTGCTCCG	0.711000			T	NUP98	AML									26			10		0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17946846	17946846	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:17946846C>T	uc002nhn.4	-	13	1901	c.1801G>A	c.(1801-1803)Gaa>Aaa	p.E601K	JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Missense_Mutation_p.E601K	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	601	Protein kinase 1.				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.Q600*(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TGTACAAATTCCTGCACCATG	0.592000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""									52			25		0	0	1	0	0
RAD51AP1	10635	broad.mit.edu	37	12	4652969	4652969	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:4652969C>T	uc001qmw.3	+	2	264	c.108C>T	c.(106-108)tcC>tcT	p.S36S	RAD51AP1_uc001qmu.3_Silent_p.S36S|RAD51AP1_uc010sep.2_5'UTR|RAD51AP1_uc010seq.2_5'UTR	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	Homo sapiens RAD51 associated protein 1 (RAD51AP1), transcript variant 1, mRNA.	36					double-strand break repair via homologous recombination		RNA binding|double-stranded DNA binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			ACAAGAAATCCAGAACAGCAC	0.303000														46			10		0	0	1	0	0
ABCD4	5826	broad.mit.edu	37	14	74756213	74756213	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:74756213G>A	uc001xpr.2	-	13	1581	c.1429C>T	c.(1429-1431)Ccc>Tcc	p.P477S	ABCD4_uc001xps.2_Missense_Mutation_p.P318S|ABCD4_uc010tur.2_Missense_Mutation_p.P373S	NM_005050	NP_005041	O14678	ABCD4_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 4 (ABCD4), transcript variant 1, mRNA.	477	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		TCCTTCAGGGGATATATCACC	0.552000														18			5		0	0	1	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205308453	205308453	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:205308453G>A	uc001hcf.1	-	3	1194	c.626C>T	c.(625-627)cCc>cTc	p.P209L	KLHDC8A_uc010prg.1_Missense_Mutation_p.P96L|KLHDC8A_uc001hcg.1_Missense_Mutation_p.P209L	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	Homo sapiens kelch domain containing 8A (KLHDC8A), mRNA.	209										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCGCTTATAGGGAATGTTGGG	0.592000														20			18		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27802366	27802366	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:27802366G>A	uc002rkz.4	+	0	2978	c.2927G>A	c.(2926-2928)aGg>aAg	p.R976K		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	976										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATGGCCTTAAGGATATGGACA	0.393000														34			13		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60926965	60926966	+	Splice_Site	DNP	CC	TT	TT			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:60926965_60926966CC>TT	uc002ycq.3	-	5	925	c.858_splice	c.e5+1	p.R286_splice	LAMA5_uc021wfw.1_Splice_Site_p.R286_splice	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	286	Laminin N-terminal.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCAGCTCACCCGGCGGGTGAC	0.723000														5			4		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41057250	41057250	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:41057250C>T	uc003jmj.4	-	8	1370	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	HEATR7B2_uc003jmi.4_Intron|HEATR7B2_uc021xxt.1_Missense_Mutation_p.E294K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	294							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						ATTTCATTTTCCTTTACTGGA	0.403000														16			14		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52370167	52370167	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:52370167C>T	uc003xqu.4	-	8	974	c.873G>A	c.(871-873)atG>atA	p.M291I		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	291	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.I290T(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGTTTCGGATCATGAGTGTGC	0.433000														100			28		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247582374	247582374	+	Missense_Mutation	SNP	A	G	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:247582374A>G	uc001icr.3	+	2	416	c.278A>G	c.(277-279)aAg>aGg	p.K93R	NLRP3_uc001ics.3_Missense_Mutation_p.K93R|NLRP3_uc001icu.3_Missense_Mutation_p.K93R|NLRP3_uc001icw.3_Missense_Mutation_p.K93R|NLRP3_uc001icv.3_Missense_Mutation_p.K93R|NLRP3_uc010pyw.2_Missense_Mutation_p.K91R|NLRP3_uc001ict.1_Missense_Mutation_p.K91R	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	93	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GATGAGCCGAAGTGGGGTGAG	0.403000														17			11		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126370885	126370885	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:126370885G>A	uc003ifj.4	+	8	8714	c.8714G>A	c.(8713-8715)gGa>gAa	p.G2905E	FAT4_uc011cgp.2_Missense_Mutation_p.G1203E|FAT4_uc003ifi.1_Missense_Mutation_p.G383E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2905	Cadherin 28.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGATCAAATGGACAAGTGTTT	0.348000														55			18		0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19653748	19653748	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:19653748C>T	uc002nmw.4	+	5	1047	c.962C>T	c.(961-963)gCc>gTc	p.A321V	CILP2_uc002nmv.4_Missense_Mutation_p.A315V	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	315	Ig-like C2-type.					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TGCTGCAAAGCCTCCGGGACC	0.562000														66			32		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85642712	85642712	+	Silent	SNP	A	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:85642712A>T	uc003hpd.3	-	46	7863	c.7455T>A	c.(7453-7455)ccT>ccA	p.P2485P	WDFY3_uc003hpe.1_Silent_p.P96P	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	2485						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTTTTAGAGGAGGCTTGACCA	0.493000														36			8		0	0	1	0	0
DEFA6	1671	broad.mit.edu	37	8	6782356	6782356	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:6782356C>T	uc003wqt.3	-	1	328	c.287G>A	c.(286-288)aGa>aAa	p.R96K		NM_001926	NP_001917	Q01524	DEF6_HUMAN	Homo sapiens defensin, alpha 6, Paneth cell-specific (DEFA6), mRNA.	96					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		p.H95Q(1)		lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GCAGCAGAATCTGTGGTTAAT	0.428000														63			12		0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47533301	47533301	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:47533301C>T	uc001cqu.1	+	0	142	c.139C>T	c.(139-141)Cct>Tct	p.P47S		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	47						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						GCACCTGTTTCCTGCACCCCC	0.488000														31			39		0	0	1	0	0
TARSL2	123283	broad.mit.edu	37	15	102198041	102198041	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:102198041G>A	uc002bxm.3	-	16	2147	c.2092C>T	c.(2092-2094)Cgt>Tgt	p.R698C	TARSL2_uc002bxl.3_Intron|TARSL2_uc010usi.2_Non-coding_Transcript	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.	698					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATCACCTGACGAGGAGATAGC	0.333000														8			7		0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170693	90170693	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:90170693G>A	uc003hsm.1	-	1	1088	c.569C>T	c.(568-570)cCt>cTt	p.P190L	GPRIN3_uc021xqb.1_Missense_Mutation_p.P190L	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	190										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TTCTGGAGAAGGAAACTCACA	0.522000														45			26		0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53989377	53989377	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:53989377G>A	uc011dxa.2	+	2	392	c.359G>A	c.(358-360)aGg>aAg	p.R120K	MLIP_uc003pcf.2_Missense_Mutation_p.R109K|MLIP_uc003pcg.4_Missense_Mutation_p.R109K|MLIP_uc003pch.4_Missense_Mutation_p.R47K|MLIP_uc011dwz.1_Missense_Mutation_p.R68K	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	109						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TTACAAGAAAGGGAATTCGAA	0.453000														86			29		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21074810	21074810	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:21074810C>T	uc001iqi.3	-	27	3308	c.2911G>A	c.(2911-2913)Gac>Aac	p.D971N	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Missense_Mutation_p.D227N|NEBL_uc021pnu.1_3'UTR	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	971	SH3.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GAGACCTCGTCTTCATCCTGG	0.498000														21			26		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44067858	44067858	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr22:44067858G>A	uc003bdy.2	-	14	1949	c.1635C>T	c.(1633-1635)ttC>ttT	p.F545F	EFCAB6_uc003bdz.2_Silent_p.F393F|EFCAB6_uc010gzi.2_Silent_p.F393F|EFCAB6_uc010gzk.1_Non-coding_Transcript	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	545					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTTACTTTATGAAATGTGCAT	0.343000														36			13		0	0	1	0	0
AZGP1	563	broad.mit.edu	37	7	99564709	99564709	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:99564709G>A	uc003ush.3	-	3	906	c.814C>T	c.(814-816)Ccg>Tcg	p.P272S		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	272	Ig-like C1-type.				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	MHC class I protein complex|extracellular region	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GTGTCCTGCGGGGGCACTGCC	0.652000														62			17		0	0	1	0	0
YJEFN3	374887	broad.mit.edu	37	19	19645929	19645929	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:19645929C>T	uc002nmt.2	+	3	477	c.405C>T	c.(403-405)gtC>gtT	p.V135V	YJEFN3_uc021uqv.1_3'UTR|YJEFN3_uc021uqw.1_Silent_p.V134V|YJEFN3_uc010ecf.2_Silent_p.V85V|YJEFN3_uc002nmu.2_Non-coding_Transcript	NM_198537	NP_940939	A6XGL0	YJEN3_HUMAN	Homo sapiens YjeF N-terminal domain containing 3 (YJEFN3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	135	YjeF N-terminal.									NS(1)|breast(1)|lung(3)	5						TGGGGCTGGTCTGTGCCCGGC	0.627000														75			31		0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486451	125486451	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:125486451C>T	uc004bmu.1	+	0	183	c.183C>T	c.(181-183)taC>taT	p.Y61Y		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 4 (OR1L4), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CCCCTATGTACTTTTTTCTCA	0.448000														44			21		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599205	179599205	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:179599205G>A	uc021vsy.1	-	48	11839	c.11614C>T	c.(11614-11616)Cga>Tga	p.R3872*	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.R533*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4799							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)			TTACTACTTCGAATTTGTTTC	0.383000														55			27		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140801496	140801496	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:140801496C>T	uc003lkq.2	+	0	960	c.702C>T	c.(700-702)ctC>ctT	p.L234L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Silent_p.L234L|PCDHGC5_uc003lkp.2_Silent_p.L234L	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	233	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L234L(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGTCCTCGATGTAAATG	0.517000														43			21		0	0	1	0	0
GFRA3	2676	broad.mit.edu	37	5	137588738	137588738	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:137588738G>A	uc003lcn.3	-	7	1262	c.1122C>T	c.(1120-1122)aaC>aaT	p.N374N	GFRA3_uc003lco.3_Silent_p.N343N	NM_001496	NP_001487	O60609	GFRA3_HUMAN	Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA.	374					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCACAGCAGGGTTTTCATTCT	0.542000														15			5		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13820557	13820557	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:13820557G>A	uc003jfd.2	-	40	6781	c.6739C>T	c.(6739-6741)Cag>Tag	p.Q2247*		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2247	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCGAATAGCTGGATGACCTTC	0.502000									Kartagener syndrome					32			13		0	0	1	0	0
SELPLG	6404	broad.mit.edu	37	12	109017173	109017173	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:109017173G>A	uc010sxe.2	-	1	1136	c.959C>T	c.(958-960)tCc>tTc	p.S320F	SELPLG_uc001tni.3_Missense_Mutation_p.S304F|SELPLG_uc021rdm.1_Missense_Mutation_p.S294F|SELPLG_uc001tnh.3_Missense_Mutation_p.S294F	NM_001206609	NP_001193538	Q14242	SELPL_HUMAN	Homo sapiens selectin P ligand (SELPLG), transcript variant 1, mRNA.	304					blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GTAGTTGACGGACAAATTGCT	0.542000														30			11		0	0	1	0	0
CALR3	125972	broad.mit.edu	37	19	16591433	16591433	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:16591433C>T	uc002ned.2	-	7	1066	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	MED26_uc002nee.2_Non-coding_Transcript	NM_145046	NP_659483	Q96L12	CALR3_HUMAN	Homo sapiens calreticulin 3 (CALR3), mRNA.	335	C-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						ACCTTGGTTTCGCCCCAGGTG	0.393000														16			14		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86524851	86524851	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:86524851G>A	uc001dlj.3	-	8	1834	c.1759C>T	c.(1759-1761)Cca>Tca	p.P587S	COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Missense_Mutation_p.P587S	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	587	Collagen-like 2.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GCAAATCCTGGAATTCCCTGA	0.338000														7			14		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668693	176668693	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:176668693G>A	uc001gkz.3	+	7	4368	c.3204G>A	c.(3202-3204)gtG>gtA	p.V1068V	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1068					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGCCCGTGGTGGTGACACATT	0.567000														148			38		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155446	22155446	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:22155446C>T	uc021urr.1	-	3	2539	c.2390G>A	c.(2389-2391)aGa>aAa	p.R797K	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGTATGAATTCTCTTATGTTT	0.353000														24			5		0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58206903	58206903	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:58206903G>A	uc010rkh.2	-	0	744	c.722C>T	c.(721-723)tCc>tTc	p.S241F		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGTAAGGTGGGAAGCACAAGT	0.428000														41			12		0	0	1	0	0
C1RL	51279	broad.mit.edu	37	12	7252512	7252512	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:7252512G>A	uc001qsn.3	-	3	694	c.601C>T	c.(601-603)Cag>Tag	p.Q201*	C1RL_uc009zft.3_Nonsense_Mutation_p.Q201*	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	Homo sapiens complement component 1, r subcomponent-like (C1RL), mRNA.	201					complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCCGCGGCCTGATAATAGGGC	0.617000														22			16		0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25915984	25915984	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:25915984C>T	uc011dkb.2	-	7	1126	c.1043G>A	c.(1042-1044)cGa>cAa	p.R348Q	SLC17A2_uc011dkc.2_Missense_Mutation_p.R348Q|SLC17A2_uc003nfl.3_Missense_Mutation_p.R348Q			O00624	NPT3_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.	348					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AAAGAGCTTTCGCACAGTGAT	0.473000														72			25		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17017764	17017764	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:17017764C>T	uc002nfb.3	-	29	4198	c.4166G>A	c.(4165-4167)cGa>cAa	p.R1389Q		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1342						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACACCTACCTCGCATGATGGC	0.602000														9			6		0	0	1	0	0
NUF2	83540	broad.mit.edu	37	1	163309173	163309173	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:163309173C>T	uc001gcq.1	+	7	812	c.512C>T	c.(511-513)tCt>tTt	p.S171F	NUF2_uc001gcr.1_Missense_Mutation_p.S171F	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	Homo sapiens NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) (NUF2), transcript variant 1, mRNA.	171	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					GTGTTAAGTTCTGTTCCAGTT	0.348000														27			21		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32170021	32170021	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:32170021C>T	uc003obb.3	-	20	3726	c.3587G>A	c.(3586-3588)gGa>gAa	p.G1196E	NOTCH4_uc003oba.3_5'UTR|NOTCH4_uc011dpu.2_Intron|NOTCH4_uc011dpv.2_Intron	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1196					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ATCCCAGTTTCCTCCCGGGCC	0.672000														58			19		0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180166058	180166058	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:180166058C>T	uc001gnz.3	+	11	2205	c.2130C>T	c.(2128-2130)atC>atT	p.I710I	QSOX1_uc001gny.3_Intron|FLJ23867_uc001god.4_5'Flank	NM_002826	NP_002817	O00391	QSOX1_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 1 (QSOX1), transcript variant 1, mRNA.	710					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACCTGGACATCAGCCTCTGTG	0.642000														80			20		0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23803473	23803473	+	Missense_Mutation	SNP	T	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:23803473T>A	uc003gqs.3	-	11	2293	c.2173A>T	c.(2173-2175)Acc>Tcc	p.T725S	PPARGC1A_uc003gqt.3_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	725	RRM.				RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GCATCACAGGTATAACGGTAG	0.398000														25			13		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884786	228884786	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:228884786C>T	uc002vpq.2	-	6	831	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E262K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E262K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	262						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGCCACTTTTCCTTGTTGCAA	0.378000														95			40		0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60183853	60183853	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:60183853G>A	uc001npj.3	+	4	1977	c.1412G>A	c.(1411-1413)tGg>tAg	p.W471*	MS4A14_uc001npi.3_Nonsense_Mutation_p.W359*|MS4A14_uc001npn.3_Nonsense_Mutation_p.W209*|MS4A14_uc001npk.3_Nonsense_Mutation_p.W454*|MS4A14_uc001npl.3_Nonsense_Mutation_p.W209*|MS4A14_uc001npm.3_Nonsense_Mutation_p.W209*	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	471	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						ACCAAAGAATGGAAATCTGAG	0.378000														44			12		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169539796	169539796	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:169539796C>T	uc003fgb.3	+	0	87	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	29										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GAACATTTTTCATTGATGCCT	0.343000														43			14		0	0	1	0	0
MTA3	57504	broad.mit.edu	37	2	42836680	42836680	+	Silent	SNP	C	G	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:42836680C>G	uc002rso.1	+	4	775	c.105C>G	c.(103-105)ctC>ctG	p.L35L	MTA3_uc002rsp.1_Silent_p.L35L|MTA3_uc002rsq.3_Silent_p.L91L	NM_020744	NP_065795	Q9BTC8	MTA3_HUMAN	Homo sapiens metastasis associated 1 family, member 3 (MTA3), mRNA.	91	BAH.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L91L(1)		endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						ATAGGGAACTCTTTTTGTCAC	0.383000														42			19		0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238048738	238048738	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:238048738G>A	uc001hym.3	-	7	1400	c.1113C>T	c.(1111-1113)ccC>ccT	p.P371P	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	371	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.P371P(2)|p.P371T(1)|p.P371L(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGTCAGTGCTGGGTGTTGCCC	0.537000														41			35		0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79409969	79409970	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:79409969_79409970CC>TT	uc002kaf.2	+	3	1408_1409	c.1408_1409CC>TT	c.(1408-1410)ccg>TTg	p.P470L	BAHCC1_uc002kae.2_5'Flank	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	532							DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			CAAGGAAGCCCCGGCCGGCCCC	0.683000														23			20		0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26789870	26789870	+	Missense_Mutation	SNP	C	T	T	rs138851282	by1000genomes	TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:26789870C>T	uc001iss.3	+	4	604	c.283C>T	c.(283-285)Cat>Tat	p.H95Y	APBB1IP_uc001isr.3_Missense_Mutation_p.H95Y|APBB1IP_uc009xks.1_Missense_Mutation_p.H95Y	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	95					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						GAATCAACATCATTCAGCATC	0.453000														32			35		0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56436024	56436024	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:56436024C>T	uc003xsf.3	+	2	1223	c.1191C>T	c.(1189-1191)ttC>ttT	p.F397F		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	397						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CCTCGGTTTTCCAGCTGTACT	0.512000														132			40		0	0	1	0	0
BC128131	0	broad.mit.edu	37	19	23159112	23159112	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:23159112C>T	uc002nqz.1	-	1	861	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	BC128131_uc002nqy.1_Non-coding_Transcript					Homo sapiens zinc finger protein 117, mRNA (cDNA clone IMAGE:40112371).																		CCACATTCTTCACATTTGCAG	0.408000														26			8		0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100266221	100266221	+	RNA	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:100266221C>T	uc021xqi.1	-	4		c.450G>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CTGCAGGGTCCCCCGAGGATT	0.542000														40			10		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158596788	158596788	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:158596788C>T	uc001fst.1	-	40	5873	c.5674G>A	c.(5674-5676)Gag>Aag	p.E1892K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1892					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.Q1891*(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGACTTTCCTCCTGCAACACC	0.428000														61			41		0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12543207	12543207	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:12543207G>A	uc002mtu.3	-	2	373	c.175C>T	c.(175-177)Ccc>Tcc	p.P59S		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	Homo sapiens zinc finger protein 443 (ZNF443), mRNA.	59	KRAB.				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TTTTTCCTGGGATATCTATAT	0.299000														25			5		0	0	1	0	0
PRRX1	5396	broad.mit.edu	37	1	170695514	170695514	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:170695514C>T	uc001ghf.3	+	2	618	c.571C>T	c.(571-573)Ctc>Ttc	p.L191F	PRRX1_uc001ghe.3_Missense_Mutation_p.L191F	NM_022716	NP_073207	P54821	PRRX1_HUMAN	Homo sapiens paired related homeobox 1 (PRRX1), transcript variant pmx-1b, mRNA.	191						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CACCGATTATCTCTCCTGGGG	0.557000														65			24		0	0	1	0	0
PTGIS	5740	broad.mit.edu	37	20	48129663	48129663	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:48129663G>A	uc002xut.3	-	7	1214	c.1160C>T	c.(1159-1161)cCc>cTc	p.P387L	PTGIS_uc010zyi.2_Missense_Mutation_p.P248L	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	387					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GCTCAGGAAGGGGAAGAGGAG	0.607000														70			24		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152550884	152550884	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:152550884C>T	uc021vrb.1	-	17	1878	c.1849G>A	c.(1849-1851)Gat>Aat	p.D617N	NEB_uc002txu.3_Missense_Mutation_p.D617N|NEB_uc021vrc.1_Missense_Mutation_p.D617N|NEB_uc010fnx.3_Missense_Mutation_p.D617N|NEB_uc021vrd.1_Missense_Mutation_p.D617N|NEB_uc010fny.2_Missense_Mutation_p.D171N	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	617					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.D617N(3)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATCTTGGGATCGTCATTAATG	0.428000														95			44		0	0	1	0	0
AGT	183	broad.mit.edu	37	1	230841696	230841696	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:230841696C>T	uc001hty.4	-	2	1615	c.1107G>A	c.(1105-1107)atG>atA	p.M369I	AGT_uc009xff.3_Missense_Mutation_p.M341I	NM_000029	NP_000020	P01019	ANGT_HUMAN	Homo sapiens angiotensinogen (serpin peptidase inhibitor, clade A, member 8) (AGT), mRNA.	369					G-protein signaling, coupled to cGMP nucleotide second messenger|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	ATAGTTTCTTCATCCAGTTGA	0.607000														99			77		0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184100834	184100834	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:184100834C>T	uc003fov.3	+	9	1342	c.1096C>T	c.(1096-1098)Ctg>Ttg	p.L366L	CHRD_uc003fow.3_5'UTR|CHRD_uc003fox.3_Silent_p.L366L|CHRD_uc003foy.3_5'UTR|CHRD_uc010hyc.3_5'UTR|CHRD_uc011brr.2_5'UTR	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	366	CHRD 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTGCCCAACCTGACAGTCCA	0.632000														17			8		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762671	24762671	+	Missense_Mutation	SNP	A	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:24762671A>T	uc001iru.4	+	5	1764	c.1361A>T	c.(1360-1362)aAa>aTa	p.K454I	KIAA1217_uc001irs.3_Missense_Mutation_p.K374I|KIAA1217_uc001irt.4_Missense_Mutation_p.K454I|KIAA1217_uc010qcy.2_Missense_Mutation_p.K454I|KIAA1217_uc010qcz.2_Missense_Mutation_p.K454I|KIAA1217_uc001irv.1_Missense_Mutation_p.K304I|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.K172I|KIAA1217_uc001irz.3_Missense_Mutation_p.K172I|KIAA1217_uc001irx.3_Missense_Mutation_p.K172I|KIAA1217_uc001iry.3_Missense_Mutation_p.K172I	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	454					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TACAGACAGAAATCAAGGAAA	0.493000														32			22		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43233375	43233375	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:43233375G>A	uc002oue.3	-	4	1275	c.1143C>T	c.(1141-1143)atC>atT	p.I381I	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Silent_p.I381I	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	381	Ig-like C2-type 3.			Missing (in Ref. 9).	defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TAATCTGGGGGATAAAGAGCT	0.458000														186			47		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144856917	144856917	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:144856917G>A	uc021ouh.1	-	39	6870	c.6568C>T	c.(6568-6570)Cta>Tta	p.L2190L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.L2190L|PDE4DIP_uc001elx.4_Silent_p.L2084L|PDE4DIP_uc001elv.4_Silent_p.L1197L	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	2190					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	p.A2189T(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGCTGTCTTAGGGCACTGTAG	0.527000			T	PDGFRB	MPD									32			8		0	0	1	0	0
CDK1	983	broad.mit.edu	37	10	62553727	62553727	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:62553727G>A	uc001jld.3	+	7	1030	c.888G>A	c.(886-888)aaG>aaA	p.K296K	CDK1_uc001jlg.3_Silent_p.K239K|CDK1_uc001jle.3_Non-coding_Transcript	NM_001786	NP_001777	P06493	CDK1_HUMAN	Homo sapiens cyclin-dependent kinase 1 (CDK1), transcript variant 1, mRNA.	296					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|midbody|nucleoplasm|spindle microtubule	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity			ovary(1)	1						AGATTAAGAAGATGTAGCTTT	0.299000														17			18		0	0	1	0	0
MEF2C	4208	broad.mit.edu	37	5	88018554	88018554	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:88018554G>A	uc003kjl.3	-	11	1748	c.1319C>T	c.(1318-1320)tCg>tTg	p.S440L	MEF2C_uc021ybg.1_Missense_Mutation_p.S350L|MEF2C_uc021ybh.1_Missense_Mutation_p.S374L|MEF2C_uc003kji.2_Missense_Mutation_p.S422L|MEF2C_uc003kjj.3_Missense_Mutation_p.S430L|MEF2C_uc003kjk.3_Missense_Mutation_p.S430L|MEF2C_uc003kjm.3_Missense_Mutation_p.S420L	NM_001193347	NP_001180276	Q06413	MEF2C_HUMAN	Homo sapiens myocyte enhancer factor 2C (MEF2C), transcript variant 3, mRNA.	430					B cell proliferation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.R440W(1)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		CCCGTCGTACGAACTGCTACA	0.592000										HNSCC(66;0.2)				72			24		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130833113	130833113	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:130833113G>A	uc010fmh.2	-	16	2332	c.1932C>T	c.(1930-1932)atC>atT	p.I644I		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	644						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TTTCATGCAAGATGTCTTTTT	0.343000														27			10		0	0	1	0	0
PDLIM1	9124	broad.mit.edu	37	10	97031432	97031432	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:97031432C>T	uc001kkh.3	-	1	315	c.206G>A	c.(205-207)aGa>aAa	p.R69K		NM_020992	NP_066272	O00151	PDLI1_HUMAN	Homo sapiens PDZ and LIM domain 1 (PDLIM1), mRNA.	69	PDZ.				response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GCCTTTGATTCTGTTCTGAGC	0.433000														69			53		0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280576	105280576	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:105280576G>A	uc010npd.3	-	0	709	c.474C>T	c.(472-474)gtC>gtT	p.V158V	SERPINA7_uc004eme.2_Silent_p.V158V|SERPINA7_uc010npe.2_Silent_p.V158V	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	158					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.V158D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	CGGTAGAAAAGACTTCAGTCT	0.438000														27			51		0	0	1	0	0
TMEM176B	28959	broad.mit.edu	37	7	150488624	150488624	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:150488624G>A	uc022apx.1	-	5	934	c.808C>T	c.(808-810)Ctg>Ttg	p.L270L	TMEM176B_uc003whu.4_Silent_p.L270L|TMEM176B_uc003whv.4_Silent_p.L233L|TMEM176B_uc003whw.4_Silent_p.L270L	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.	270					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGCTCACAGGACAATGGCA	0.607000														33			5		0	0	1	0	0
CSNK1G1	53944	broad.mit.edu	37	15	64506241	64506241	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:64506241C>T	uc002anf.3	-	5	1007	c.527G>A	c.(526-528)gGc>gAc	p.G176D	CSNK1G1_uc002ane.3_Non-coding_Transcript|CSNK1G1_uc002ang.1_Missense_Mutation_p.G176D|CSNK1G1_uc002anh.1_Missense_Mutation_p.G176D|CSNK1G1_uc002anj.3_Missense_Mutation_p.G158D	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN	Homo sapiens casein kinase 1, gamma 1 (CSNK1G1), mRNA.	176	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						TTTCTTATTGCCTTGTCGACC	0.403000														77			29		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10615052	10615052	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:10615052G>A	uc010rcc.1	-	16	2548	c.2162C>T	c.(2161-2163)tCc>tTc	p.S721F	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|MRVI1_uc010rcb.1_Missense_Mutation_p.S713F|MRVI1_uc001miw.2_Missense_Mutation_p.S712F|MRVI1_uc001mix.3_Missense_Mutation_p.S406F|MRVI1_uc001miz.2_Missense_Mutation_p.S630F|MRVI1_uc010rcd.1_Missense_Mutation_p.S515F|MRVI1_uc009ygd.1_Missense_Mutation_p.S406F|MRVI1_uc010rce.1_Non-coding_Transcript	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	694					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GGCTGGTAAGGAGGGAATGGA	0.522000														35			9		0	0	1	0	0
PI4KB	5298	broad.mit.edu	37	1	151288047	151288047	+	Splice_Site	SNP	A	G	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:151288047A>G	uc001exr.3	-	3	1584	c.945_splice	c.e3+1	p.E315_splice	PI4KB_uc001exs.3_Splice_Site_p.E303_splice|PI4KB_uc001exu.3_Splice_Site_p.E303_splice|PI4KB_uc010pcw.2_Intron|PI4KB_uc001ext.3_Splice_Site_p.E303_splice	NM_002651	NP_001185704	Q9UBF8	PI4KB_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.	303					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	Golgi apparatus|endosome|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCAGAATTTTACCTCATCCTC	0.512000														50			53		0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124747489	124747489	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:124747489C>T	uc001qbc.3	+	19	3090	c.2921C>T	c.(2920-2922)tCg>tTg	p.S974L	ROBO3_uc010saq.2_Missense_Mutation_p.S23L|ROBO3_uc001qbd.2_5'UTR|ROBO3_uc010sar.2_Missense_Mutation_p.S23L|ROBO3_uc001qbe.3_5'UTR|ROBO3_uc001qbf.1_5'UTR	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	974					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CGAAGCCCCTCGGCCCAGGAA	0.637000														8			4		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186106021	186106021	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:186106021C>T	uc001grq.1	+	86	13763	c.13534C>T	c.(13534-13536)Cga>Tga	p.R4512*	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Nonsense_Mutation_p.R81*	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4512	Ig-like C2-type 44.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.R4512R(2)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGTGTTGCTCGAAACTTAAT	0.428000														85			62		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38427168	38427168	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:38427168C>T	uc003jlc.2	+	13	2214	c.1868C>T	c.(1867-1869)cCc>cTc	p.P623L	EGFLAM_uc003jlb.2_Missense_Mutation_p.P623L|EGFLAM_uc003jle.2_Missense_Mutation_p.P389L|EGFLAM_uc003jlf.2_5'UTR	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	623	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GCTGCAACTCCCTGGCCACTG	0.483000														87			35		0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156667190	156667190	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:156667190C>T	uc003lwo.1	+	9	1052	c.970C>T	c.(970-972)Caa>Taa	p.Q324*		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	324	SH2.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAACTATCACCAACATAATGG	0.493000			T	SYK	peripheral T-cell lymphoma									36			16		0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55726314	55726314	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:55726314C>T	uc010spj.2	+	0	830	c.830C>T	c.(829-831)tCt>tTt	p.S277F		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						CTCAATACATCTGTTGCCCCC	0.373000														41			15		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9434109	9434109	+	Splice_Site	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:9434109G>A	uc021wam.1	+	29	2975	c.2960_splice	c.e29+1	p.G987_splice	PLCB4_uc010gbw.1_Splice_Site_p.G987_splice|PLCB4_uc010gbx.3_Splice_Site_p.G999_splice|PLCB4_uc021wal.1_Splice_Site_p.G987_splice|PLCB4_uc002wnh.3_Splice_Site_p.G834_splice	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	987					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AAGAAGAAGGGGTAATACTGT	0.383000														28			9		0	0	1	0	0
SCN3B	55800	broad.mit.edu	37	11	123516298	123516298	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:123516298G>A	uc001pza.1	-	2	623	c.216C>T	c.(214-216)ttC>ttT	p.F72F	SCN3B_uc001pzb.1_Silent_p.F72F	NM_001040151	NP_060870	Q9NY72	SCN3B_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA.	72	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	p.F72L(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		AACATACAAGGAAATCTTTAC	0.572000														84			34		0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	25071620	25071620	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:25071620C>T	uc001mqs.3	+	9	1076	c.802C>T	c.(802-804)Caa>Taa	p.Q268*	LUZP2_uc009yif.3_Nonsense_Mutation_p.Q182*|LUZP2_uc009yig.3_Nonsense_Mutation_p.Q226*	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	268						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TGAGAGCTCTCAAGTTGAGTC	0.363000														37			11		0	0	1	0	0
F2RL1	2150	broad.mit.edu	37	5	76129393	76129393	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:76129393C>T	uc003keo.3	+	1	1136	c.961C>T	c.(961-963)Cat>Tat	p.H321Y		NM_005242	NP_005233	P55085	PAR2_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.	321					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		GGGCCAGAGCCATGTCTATGC	0.468000														236			112		0	0	1	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751350	26751350	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:26751350C>T	uc003cdp.3	+	1	776	c.187C>T	c.(187-189)Cct>Tct	p.P63S	LRRC3B_uc003cdq.3_Missense_Mutation_p.P63S|LRRC3B_uc021wuj.1_Missense_Mutation_p.P63S	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	63	LRRNT.					integral to membrane		p.P63P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TAGAGATCTTCCTCCTGAAAC	0.428000														32			12		0	0	1	0	0
OPN4	94233	broad.mit.edu	37	10	88419066	88419066	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:88419066C>T	uc010qmk.1	+	5	901	c.674C>T	c.(673-675)cCc>cTc	p.P225L	OPN4_uc001kdp.3_Missense_Mutation_p.P225L|OPN4_uc001kdq.3_Missense_Mutation_p.P214L|OPN4_uc009xsx.1_5'Flank	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	214					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GCCTACGTGCCCGAGGGGTTG	0.622000														31			26		0	0	1	0	0
DEFB136	613210	broad.mit.edu	37	8	11831607	11831607	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:11831607C>T	uc011kxm.2	-	1	76	c.76G>A	c.(76-78)Gat>Aat	p.D26N		NM_001033018	NP_001028190	Q30KP8	DB136_HUMAN	Homo sapiens defensin, beta 136 (DEFB136), mRNA.	26					defense response to bacterium	extracellular region				endometrium(2)|large_intestine(1)|lung(4)	7			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.163)		TTGACTCCATCATTCCCAAAC	0.483000														157			36		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995697	140995697	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:140995697C>T	uc004fbt.3	+	3	2831	c.2507C>T	c.(2506-2508)tCc>tTc	p.S836F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.S495F	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	836							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTTCCCCTCCTCCACTTCA	0.557000										HNSCC(15;0.026)				40			60		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151176424	151176425	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:151176424_151176425CC>TT	uc011bod.2	-	0	73_74	c.73_74GG>AA	c.(73-75)ggg>AAg	p.G25K		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	25					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGCCTTGCCCCCAGGGGTGGCG	0.540000														34			13		0	0	1	0	0
SPRYD3	84926	broad.mit.edu	37	12	53468988	53468988	+	Missense_Mutation	SNP	T	G	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:53468988T>G	uc001sbt.2	-	3	349	c.262A>C	c.(262-264)Agt>Cgt	p.S88R	SPRYD3_uc010snw.2_5'UTR	NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN	Homo sapiens SPRY domain containing 3 (SPRYD3), mRNA.	88	B30.2/SPRY.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CGGACTCCACTGTCCACAATA	0.567000														73			38		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10626014	10626014	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:10626014C>T	uc010rcc.1	-	12	2067	c.1681G>A	c.(1681-1683)Gaa>Aaa	p.E561K	MRVI1_uc010rcb.1_Missense_Mutation_p.E553K|MRVI1_uc001miw.2_Missense_Mutation_p.E552K|MRVI1_uc001mix.3_Missense_Mutation_p.E246K|MRVI1_uc001miz.2_Missense_Mutation_p.E470K|MRVI1_uc010rcd.1_Missense_Mutation_p.E355K|MRVI1_uc009ygd.1_Missense_Mutation_p.E246K|MRVI1_uc010rce.1_Non-coding_Transcript	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	534					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		AGGTTGCGTTCCCTTTCAGCC	0.468000														32			18		0	0	1	0	0
SELL	6402	broad.mit.edu	37	1	169670783	169670783	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:169670783G>A	uc010pls.2	-	4	967	c.858C>T	c.(856-858)ccC>ccT	p.P286P	C1orf112_uc001ggj.3_Intron|SELL_uc001ggk.3_Silent_p.P346P|SELL_uc001ggl.2_Silent_p.P346P	NM_000655	NP_000646	P14151	LYAM1_HUMAN	Homo sapiens selectin L (SELL), transcript variant 1, mRNA.	333	Sushi 2.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					GAATGAAGAGGGGGTTATAAT	0.398000														4			4		0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117432737	117432737	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:117432737G>A	uc003vjf.3	-	3	605	c.513C>T	c.(511-513)gtC>gtT	p.V171V		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	171										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCAGCATCAGGACCACCTGCT	0.522000														49			11		0	0	1	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28562496	28562496	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:28562496G>A	uc003ceh.3	+	8	966	c.798G>A	c.(796-798)acG>acA	p.T266T	ZCWPW2_uc003cei.3_Silent_p.T266T|ZCWPW2_uc010hfo.3_Silent_p.T71T	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 2 (ZCWPW2), mRNA.	266							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						TCTGTGAGACGGAAGTTTTAC	0.368000														16			8		0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155102440	155102440	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:155102440C>T	uc002tyt.4	+	4	906	c.802C>T	c.(802-804)Cct>Tct	p.P268S	GALNT13_uc002tyr.4_Missense_Mutation_p.P268S|GALNT13_uc010foc.1_Missense_Mutation_p.P87S|GALNT13_uc010fod.3_Missense_Mutation_p.P21S	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	268						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CCGCTGGTATCCTGTTCCCCA	0.398000														31			20		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97137883	97137883	+	Missense_Mutation	SNP	T	G	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:97137883T>G	uc021rcc.1	+	21	2996	c.2918T>G	c.(2917-2919)cTt>cGt	p.L973R				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	973										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AATATCTATCTTCCCCATGTC	0.274000														12			6		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68950472	68950472	+	Nonsense_Mutation	SNP	G	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:68950472G>T	uc003xxv.1	+	6	811	c.784G>T	c.(784-786)Gaa>Taa	p.E262*	PREX2_uc003xxu.1_Nonsense_Mutation_p.E262*|PREX2_uc011lez.1_Nonsense_Mutation_p.E197*	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	262	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AAATATTCAAGAACGGGTGTT	0.393000														37			11		0.000673444	0.000674783	1	1	0
FEZF2	55079	broad.mit.edu	37	3	62355784	62355784	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:62355784C>T	uc003dlh.2	-	3	1561	c.1354G>A	c.(1354-1356)Gac>Aac	p.D452N	FEZF2_uc003dli.2_Missense_Mutation_p.D452N	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	Homo sapiens FEZ family zinc finger 2 (FEZF2), mRNA.	452					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		CTAGTCAGGTCCTTTGCGGAG	0.512000														30			14		0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	62985100	62985100	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:62985100C>T	uc002alb.4	+	9	1175	c.1175C>T	c.(1174-1176)tCc>tTc	p.S392F		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	392	FERM.|Interaction with PIP5K1C (By similarity).				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GAGCAGATATCCCAGCTGATT	0.408000														37			27		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801362	185801362	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:185801362G>A	uc002uph.3	+	3	1833	c.1239G>A	c.(1237-1239)aaG>aaA	p.K413K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	413						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTATACATAAGAAAACAAATT	0.378000														50			29		0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184100938	184100938	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:184100938G>A	uc003fov.3	+	9	1446	c.1200G>A	c.(1198-1200)agG>agA	p.R400R	CHRD_uc003fow.3_Silent_p.R30R|CHRD_uc003fox.3_Silent_p.R400R|CHRD_uc003foy.3_Silent_p.R30R|CHRD_uc010hyc.3_Silent_p.R30R|CHRD_uc011brr.2_Silent_p.R30R	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	400	CHRD 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTGCTGCCAGGAAGAGCTGCG	0.662000														10			8		0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84270651	84270651	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:84270651G>A	uc021zcf.1	-	25	2488	c.2458C>T	c.(2458-2460)Cca>Tca	p.P820S	SNAP91_uc011dzd.2_Missense_Mutation_p.P318S|SNAP91_uc003pka.3_Missense_Mutation_p.P818S|SNAP91_uc011dze.2_Missense_Mutation_p.P818S|SNAP91_uc003pkc.3_Missense_Mutation_p.P790S|SNAP91_uc003pkd.3_Missense_Mutation_p.P513S|SNAP91_uc003pkb.3_Missense_Mutation_p.P729S	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	820	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GAACTGGTTGGAGGTACAGCT	0.428000														17			9		0	0	1	0	0
SULT1A1	6817	broad.mit.edu	37	16	28617439	28617439	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:28617439G>A	uc002dqn.3	-	9	1578	c.986C>T	c.(985-987)aCc>aTc	p.T329I	NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Missense_Mutation_p.T238I|SULT1A1_uc002dqi.3_Missense_Mutation_p.T238I|SULT1A1_uc002dqk.3_Missense_Mutation_p.T238I|SULT1A1_uc002dql.3_Missense_Mutation_p.T238I|SULT1A1_uc002dqm.3_Missense_Mutation_p.T160I|SULT1A1_uc002dqp.3_Missense_Mutation_p.T238I	NM_177534	NP_803878	P50225	ST1A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.	238					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						GGTGTAGTTGGTCATAGGGTT	0.592000														145			37		0	0	1	0	0
ITIH3	3699	broad.mit.edu	37	3	52842593	52842593	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:52842593G>A	uc003dfv.2	+	21	2605	c.2569G>A	c.(2569-2571)Gat>Aat	p.D857N	ITIH3_uc011bek.1_Missense_Mutation_p.D665N	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	857					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTACAGAAAGGATGCCAGCAT	0.532000														26			12		0	0	1	0	0
LONRF1	91694	broad.mit.edu	37	8	12600729	12600729	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:12600729T>C	uc003wwd.1	-	1	847	c.784A>G	c.(784-786)Aaa>Gaa	p.K262E	LONRF1_uc010lsp.1_5'UTR	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 1 (LONRF1), mRNA.	262					proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		ATGGCTGCTTTAAACTCTTGG	0.294000														41			21		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43944801	43944801	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:43944801C>T	uc010skx.2	-	1	364	c.364G>A	c.(364-366)Ggg>Agg	p.G122R		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	122						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCCGAGGGCCCTGCGTCGCTC	0.657000														8			10		0	0	1	0	0
CLDN8	9073	broad.mit.edu	37	21	31587712	31587712	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr21:31587712C>T	uc002ynu.2	-	0	758	c.532G>A	c.(532-534)Gga>Aga	p.G178R		NM_199328	NP_955360	P56748	CLD8_HUMAN	Homo sapiens claudin 8 (CLDN8), mRNA.	178					calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						AGAGCTCCTCCAACAATCAGC	0.448000														16			14		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100389633	100389633	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:100389633C>T	uc003uwj.3	+	41	7737	c.7572C>T	c.(7570-7572)ctC>ctT	p.L2524L	ZAN_uc003uwk.3_Silent_p.L2524L|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Missense_Mutation_p.S518F	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2525	VWFD 4.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGCTGGGCCTCCGCACGGGCC	0.672000														32			10		0	0	1	0	0
TCR-alpha	0	broad.mit.edu	37	14	22434209	22434209	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:22434209G>A	uc021rpm.1	+	1	300	c.262G>A	c.(262-264)Gat>Aat	p.D88N	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron					SubName: Full=V-alpha; Flags: Fragment;																		AGCACAGGTCGATAAATCCAG	0.478000														97			40		0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111696776	111696776	+	Nonsense_Mutation	SNP	C	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:111696776C>A	uc003puy.4	-	12	3123	c.2782G>T	c.(2782-2784)Gag>Tag	p.E928*	REV3L_uc003pux.4_Nonsense_Mutation_p.E850*|REV3L_uc003puz.4_Nonsense_Mutation_p.E850*	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	928					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCTTCAGTCTCATAATTTACC	0.373000								DNA polymerases (catalytic subunits)						29			14		1.52009e-12	1.5415e-12	1	1	0
IGF2BP1	10642	broad.mit.edu	37	17	47126800	47126800	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:47126800G>A	uc002iom.3	+	14	2062	c.1728G>A	c.(1726-1728)agG>agA	p.R576R	IGF2BP1_uc010dbj.3_Silent_p.R437R	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	576					CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGGCACGGAGGAAGTGACCAG	0.587000														28			10		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25718576	25718576	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:25718576C>T	uc003xes.2	-	12	1596	c.1331G>A	c.(1330-1332)gGa>gAa	p.G444E	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	444					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.G444E(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTGATTATTTCCTTGTGTTGA	0.473000														109			16		0	0	1	0	0
LINGO4	339398	broad.mit.edu	37	1	151774002	151774002	+	Silent	SNP	C	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:151774002C>A	uc001ezf.1	-	1	1369	c.1179G>T	c.(1177-1179)ggG>ggT	p.G393G	LINGO4_uc021oyu.1_Silent_p.G393G	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	393	LRRCT.					integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCAGGCTCTTCCCCTGGACAT	0.627000														39			52		6.08268e-21	6.18702e-21	1	1	0
GABRG3	2567	broad.mit.edu	37	15	27777913	27777913	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:27777913G>A	uc001zbg.2	+	9	1544	c.1290G>A	c.(1288-1290)agG>agA	p.R430R		NM_033223	NP_150092	Q99928	GBRG3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA.	430					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.W429*(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		GATCCTGGAGGAAAGGGCGTA	0.483000														14			12		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132200418	132200418	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:132200418C>T	uc002tst.2	-	0	2050	c.1584G>A	c.(1582-1584)ttG>ttA	p.L528L						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		TCCCTCTTTCCAAGAATCCCT	0.557000														9			7		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32180270	32180270	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:32180270C>T	uc003obb.3	-	16	2800	c.2661G>A	c.(2659-2661)caG>caA	p.Q887Q	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	887	EGF-like 23.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTGCAGCCTTCTGGCAGGAGG	0.592000														98			20		0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771475	143771475	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:143771475C>T	uc011ktx.2	+	0	163	c.163C>T	c.(163-165)Cac>Tac	p.H55Y		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CTCCAGACTCCACACCCCCAT	0.567000														54			18		0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164789377	164789377	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:164789377G>A	uc001gct.3	+	6	1529	c.1066G>A	c.(1066-1068)Gat>Aat	p.D356N	PBX1_uc010pku.2_Missense_Mutation_p.D356N|PBX1_uc001gcs.3_Intron|PBX1_uc010pkv.2_Missense_Mutation_p.D273N|PBX1_uc010pkw.1_Missense_Mutation_p.D246N	NM_002585	NP_002576	P40424	PBX1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA.	356					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						ACTCAATGGGGATTCTTACCA	0.498000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""									79			24		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121238865	121238865	+	Splice_Site	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:121238865G>A	uc003yox.3	+	16	2130	c.1865_splice	c.e16-1	p.E622_splice	COL14A1_uc003yoy.3_Splice_Site_p.E300_splice	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	622					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCGGTTTACAGAGGAAGTTCC	0.468000														40			15		0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43923295	43923295	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:43923295C>T	uc010wka.2	+	0	1040	c.1023C>T	c.(1021-1023)taC>taT	p.Y341Y	MAPT-AS1_uc010wjz.2_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	Homo sapiens intramembrane protease 5 (IMP5), mRNA.	341						integral to membrane	aspartic-type endopeptidase activity										GGGTGGCCTACCGCAATGAGG	0.632000														58			10		0	0	1	0	0
PHOX2B	8929	broad.mit.edu	37	4	41748082	41748082	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:41748082G>A	uc003gwf.4	-	2	1047	c.687C>T	c.(685-687)ccC>ccT	p.P229P		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA.	229					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						ccgggcccccgggccccgccg	0.841000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					3			3		0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156222291	156222291	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:156222291G>A	uc001foc.4	-	18	2816	c.2667C>T	c.(2665-2667)atC>atT	p.I889I		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	Homo sapiens smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG5), mRNA.	889	PINc.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CCAGGCCATCGATCACTGGTG	0.527000														48			10		0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65274968	65274968	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:65274968G>A	uc003hcv.3	-	0	211	c.102C>T	c.(100-102)caC>caT	p.H34H	TECRL_uc003hcw.3_Silent_p.H34H	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	34					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TTGACAAAAAGTGAAAATTTC	0.418000														49			13		0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63125822	63125822	+	Silent	SNP	A	G	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:63125822A>G	uc002alb.4	+	51	7122	c.7122A>G	c.(7120-7122)caA>caG	p.Q2374Q	TLN2_uc002alc.4_Silent_p.Q767Q|TLN2_uc010uic.2_5'UTR|AK125516_uc002ale.1_Non-coding_Transcript	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	2374	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGGTGGCCCAAGGAAAGGTGG	0.567000														51			31		0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409695	56409695	+	Missense_Mutation	SNP	A	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:56409695A>T	uc001njb.1	-	0	221	c.221T>A	c.(220-222)tTt>tAt	p.F74Y	OR8U8_uc001nit.2_Intron	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AP, member 2 (OR5AP2), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						GGCATCTACAAAAGAGAGGCT	0.443000														31			14		0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74838073	74838073	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:74838073C>T	uc004air.3	+	6	853	c.644C>T	c.(643-645)tCc>tTc	p.S215F	GDA_uc011lse.2_Missense_Mutation_p.S141F|GDA_uc004aiq.3_Missense_Mutation_p.S215F|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_Missense_Mutation_p.S141F|GDA_uc004ais.3_Intron|GDA_uc004ait.1_Missense_Mutation_p.S141F	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN	Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.	215					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CCACGTTTTTCCCTCTCCTGC	0.393000														44			12		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16012584	16012584	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:16012584G>A	uc010lsu.3	-	5	1005	c.941C>T	c.(940-942)cCa>cTa	p.P314L	MSR1_uc003wwz.3_Missense_Mutation_p.P296L|MSR1_uc003wxa.3_Missense_Mutation_p.P296L|MSR1_uc003wxb.3_Missense_Mutation_p.P296L|MSR1_uc011kxz.2_Missense_Mutation_p.P70L	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	296	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TATTGGACCTGGAAATCCTCG	0.403000														22			21		0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16059913	16059913	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:16059913C>T	uc010xov.2	+	0	96	c.96C>T	c.(94-96)taC>taT	p.Y32Y		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TCCTGCTGTACCTCCTGATGT	0.483000														149			62		0	0	1	0	0
FMO4	2329	broad.mit.edu	37	1	171303792	171303792	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:171303792C>T	uc001gho.3	+	7	1287	c.1070C>T	c.(1069-1071)cCc>cTc	p.P357L		NM_002022	NP_002013	P31512	FMO4_HUMAN	Homo sapiens flavin containing monooxygenase 4 (FMO4), mRNA.	357					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CAAGTCTTTCCCTTAAACCTA	0.408000														72			21		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101436167	101436167	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:101436167G>A	uc010svm.1	+	11	1647	c.1075G>A	c.(1075-1077)Ggc>Agc	p.G359S	ANO4_uc001thw.2_Missense_Mutation_p.G324S|ANO4_uc001thx.2_Missense_Mutation_p.G359S	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	359						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CTGGTACACCGGCATGCTCTT	0.488000										HNSCC(74;0.22)				26			14		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140209946	140209946	+	Missense_Mutation	SNP	G	A	A	rs147693617		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:140209946G>A	uc003lho.2	+	0	2297	c.2270G>A	c.(2269-2271)aGg>aAg	p.R757K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Missense_Mutation_p.R757K	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	751					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)			AGGCGGCAGAGGGTGTGCTCC	0.642000														37			15		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175116112	175116112	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:175116112T>C	uc001gkl.1	+	18	3918	c.3805T>C	c.(3805-3807)Tac>Cac	p.Y1269H		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	1269	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTCCATTCCTTACGTGGAGTT	0.522000											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		36			14		0	0	1	0	0
TKTL1	8277	broad.mit.edu	37	X	153553686	153553686	+	Splice_Site	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:153553686G>A	uc004fkg.3	+	10	1504	c.1318_splice	c.e10-1	p.G440_splice	TKTL1_uc011mzl.2_Splice_Site_p.G434_splice|TKTL1_uc011mzm.2_Splice_Site_p.G236_splice|TKTL1_uc004fkh.3_Splice_Site_p.G384_splice	NM_012253	NP_001139406	P51854	TKTL1_HUMAN	Homo sapiens transketolase-like 1 (TKTL1), transcript variant 1, mRNA.	440					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATGCCCTAGGGGATGTGCTTC	0.483000														21			22		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103026062	103026062	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:103026062C>T	uc001phn.1	+	24	3720	c.3576C>T	c.(3574-3576)atC>atT	p.I1192I	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Silent_p.I1192I	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	1192	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGTAACAGATCGTAATTCCTA	0.338000														9			7		0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55715062	55715062	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:55715062C>T	uc010spi.2	+	0	679	c.679C>T	c.(679-681)Cct>Tct	p.P227S		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TTTGAGAATTCCTTCTACTAG	0.378000														29			10		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160840491	160840491	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:160840491G>A	uc002ube.2	-	12	2343	c.2131C>T	c.(2131-2133)Cat>Tat	p.H711Y	PLA2R1_uc010zcp.2_Missense_Mutation_p.H711Y|PLA2R1_uc002ubf.3_Missense_Mutation_p.H711Y	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	711	C-type lectin 4.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TCCTCAATATGGGCAAAGCTT	0.318000														21			10		0	0	1	0	0
GJA5	2702	broad.mit.edu	37	1	147231015	147231015	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:147231015G>A	uc021ovl.1	-	0	332	c.332C>T	c.(331-333)gCc>gTc	p.A111V	GJA5_uc001eps.1_Missense_Mutation_p.A111V|GJA5_uc001ept.1_Missense_Mutation_p.A111V	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	111					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			GGCCCTCTCGGCCTCCCGTAG	0.612000														70			62		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10916422	10916422	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr21:10916422G>A	uc002yip.1	-	19	1592	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Silent_p.L390L|TPTE_uc002yir.1_Silent_p.L370L|TPTE_uc010gkv.1_Silent_p.L270L	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	408					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R408H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTCTTGGAGGGAGATTCCAGT	0.363000														59			6		0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90535428	90535428	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:90535428C>T	uc010mqi.3	+	3	635	c.606C>T	c.(604-606)tcC>tcT	p.S202S	FAM75C1_uc004apq.4_Silent_p.S185S	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		CAGAACCTTCCCTTCTCCTAG	0.617000														125			65		0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748117	19748117	+	Missense_Mutation	SNP	C	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr13:19748117C>A	uc009zzj.3	-	4	1344	c.1239G>T	c.(1237-1239)atG>atT	p.M413I		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	413					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCCCCTCCTCCATGCCTTCTC	0.607000														112			52		8.44121e-28	8.62955e-28	1	1	0
FRMPD1	22844	broad.mit.edu	37	9	37744558	37744558	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:37744558G>A	uc004aag.1	+	15	2573	c.2529G>A	c.(2527-2529)caG>caA	p.Q843Q	FRMPD1_uc004aah.1_Silent_p.Q843Q	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	843						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTTTCCTACAGACCGACTACA	0.562000														68			18		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075170	9075170	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:9075170G>A	uc002mkp.3	-	2	12480	c.12276C>T	c.(12274-12276)atC>atT	p.I4092I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4094	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.M4091I(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCATAGCAAGGATCATTCCTC	0.527000														49			19		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537313	55537313	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:55537313G>A	uc003xsd.1	+	3	1019	c.871G>A	c.(871-873)Gac>Aac	p.D291N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	291					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTGCTACTTAGACTATTCTTT	0.303000														37			8		0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21222689	21222689	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:21222689G>A	uc010bwn.1	-	1	289	c.207C>T	c.(205-207)ttC>ttT	p.F69F	ZP2_uc002dii.2_Silent_p.F30F|ZP2_uc010bwo.3_Silent_p.F69F	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	30					binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TCACAAGGGCGAAGAAGAGAG	0.463000														80			34		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494752	55494752	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:55494752C>T	uc021vbq.1	+	5	1797	c.1686C>T	c.(1684-1686)aaC>aaT	p.N562N	NLRP2_uc010yfp.2_Silent_p.N539N|NLRP2_uc002qij.3_Silent_p.N562N|NLRP2_uc010esp.3_Silent_p.N540N|NLRP2_uc010esn.3_Silent_p.N538N|NLRP2_uc010eso.3_Silent_p.N559N	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	562					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCCTCGCTAACGAGAAGAGAG	0.542000														34			12		0	0	1	0	0
FGF12	2257	broad.mit.edu	37	3	191888285	191888285	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:191888285G>A	uc003fsx.3	-	3	1401	c.575C>T	c.(574-576)aCc>aTc	p.T192I	FGF12_uc003fsy.3_Missense_Mutation_p.T130I	NM_021032	NP_066360	P61328	FGF12_HUMAN	Homo sapiens fibroblast growth factor 12 (FGF12), transcript variant 1, mRNA.	192					JNK cascade|cell-cell signaling|heart development|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TGAGGGCTTGGTTTTCTTCAC	0.428000														70			36		0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74272379	74272379	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:74272379G>A	uc003hgs.4	+	2	244	c.171G>A	c.(169-171)caG>caA	p.Q57Q	ALB_uc011cbe.2_5'UTR|ALB_uc003hgw.4_Intron|ALB_uc011cbf.2_5'UTR	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	57	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	ATCTTCAGCAGTGTCCATTTG	0.343000														30			8		0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196965309	196965309	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:196965309G>A	uc001gts.4	+	5	1076	c.948G>A	c.(946-948)tgG>tgA	p.W316*		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	316	Sushi 5.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ATGGAATATGGACAGAGCTTC	0.338000														46			25		0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63071657	63071657	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:63071657C>T	uc009yor.3	+	7	1571	c.1363C>T	c.(1363-1365)Cac>Tac	p.H455Y	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Silent_p.F248F	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	455						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGTTGCTGTTCACTTCATTGA	0.463000														90			32		0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46252589	46252590	+	Missense_Mutation	DNP	GT	AG	AG			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:46252589_46252590GT>AG	uc011bzc.1	-	9	1518_1519	c.1106_1107AC>CT	c.(1105-1107)aac>aCT	p.N369T	GABRA2_uc003gxc.3_Missense_Mutation_p.N364T|GABRA2_uc010igc.2_Missense_Mutation_p.N364T			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	389					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CATAAGCGTTGTTCTGTATCAT	0.406000														51			22		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144873915	144873915	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:144873915G>A	uc021ouh.1	-	30	5344	c.5042C>T	c.(5041-5043)cCc>cTc	p.P1681L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.P1681L|PDE4DIP_uc001elx.4_Missense_Mutation_p.P1637L|PDE4DIP_uc001elv.4_Missense_Mutation_p.P688L	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1681					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGTATTCTGGGGAGTTGGCAA	0.517000			T	PDGFRB	MPD									302			98		0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60194322	60194322	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:60194322G>A	uc001xen.1	-	2	1289	c.1080C>T	c.(1078-1080)atC>atT	p.I360I	RTN1_uc001xem.1_5'UTR	NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	360					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TTGCTTCTTTGATGGCGGTGA	0.617000														13			12		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114195792	114195792	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:114195792C>T	uc003ibe.4	+	14	1770	c.1670C>T	c.(1669-1671)tCc>tTc	p.S557F	ANK2_uc003ibd.4_Missense_Mutation_p.S536F|ANK2_uc003ibf.4_Missense_Mutation_p.S557F|ANK2_uc003ibc.2_Missense_Mutation_p.S533F|ANK2_uc011cgb.1_Missense_Mutation_p.S572F	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	557					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCAGCCCACTCCTTAGCTACC	0.522000														29			11		0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4674005	4674005	+	Missense_Mutation	SNP	A	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:4674005A>T	uc021qcq.1	+	0	249	c.249A>T	c.(247-249)aaA>aaT	p.K83N	OR51E1_uc001lzi.4_Missense_Mutation_p.K83N	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATGCCCAAAATGCTGGCCA	0.473000														29			19		0	0	1	0	0
IGBP1P1	280655	broad.mit.edu	37	14	35409227	35409227	+	RNA	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:35409227G>A	uc010tpo.1	+	0		c.100G>A								Homo sapiens immunoglobulin (CD79A) binding protein 1 pseudogene 1 (IGBP1P1), non-coding RNA.																		ATCTCGCCAGGAGAGGCCTCC	0.453000														30			12		0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147498055	147498055	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:147498055G>A	uc003lox.2	+	22	2241	c.2168G>A	c.(2167-2169)cGg>cAg	p.R723Q	SPINK5_uc010jgs.1_Missense_Mutation_p.R695Q|SPINK5_uc010jgr.2_Missense_Mutation_p.R704Q|SPINK5_uc003low.2_Missense_Mutation_p.R723Q|SPINK5_uc003loy.2_Missense_Mutation_p.R723Q	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	723	Kazal-like 11.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	p.R723Q(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGTACTCGGGAGAGTGAT	0.428000														36			23		0	0	1	0	0
LNPEP	4012	broad.mit.edu	37	5	96315551	96315551	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:96315551C>T	uc003kmv.1	+	1	1243	c.729C>T	c.(727-729)atC>atT	p.I243I	LNPEP_uc003kmw.1_Silent_p.I229I	NM_005575	NP_787116	Q9UIQ6	LCAP_HUMAN	Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA.	243					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		ATGGACAGATCGCCATTGTTG	0.408000														28			22		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10089914	10089914	+	Splice_Site	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:10089914C>T	uc002mmq.1	-	39	2853	c.2767_splice	c.e39-1	p.G923_splice		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	923	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCCTGTCTTTCCCTGGTGAGG	0.592000														38			10		0	0	1	0	0
GLYAT	10249	broad.mit.edu	37	11	58491919	58491920	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:58491919_58491920GG>AA	uc001nnb.3	-	1	205_206	c.50_51CC>TT	c.(49-51)tcc>tTT	p.S17F	GLYAT_uc001nnc.3_Missense_Mutation_p.S17F	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	17			S -> T (in dbSNP:rs10896818).		acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TCTTCCTCAAGGATTTCTCCAG	0.446000														41			15		0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141321352	141321352	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:141321352G>A	uc003yvh.2	-	9	1926	c.1911C>T	c.(1909-1911)atC>atT	p.I637I	TRAPPC9_uc003yvj.2_Silent_p.I539I|TRAPPC9_uc003yvi.1_Silent_p.I530I	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	539					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CTCACCTGACGATGGGAAGCT	0.582000														39			13		0	0	1	0	0
TLE3	7090	broad.mit.edu	37	15	70347595	70347595	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:70347595G>A	uc002asl.2	-	13	1681	c.1380C>T	c.(1378-1380)ccC>ccT	p.P460P	TLE3_uc002ask.2_Silent_p.P387P|TLE3_uc010ukd.1_Silent_p.P450P|TLE3_uc010bil.1_Silent_p.P457P|TLE3_uc002asn.2_Silent_p.P448P|TLE3_uc002asm.2_Silent_p.P460P|TLE3_uc002asp.2_Silent_p.P452P|TLE3_uc002aso.2_Silent_p.P455P	NM_001105192	NP_001098662	Q04726	TLE3_HUMAN	Homo sapiens transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) (TLE3), transcript variant 2, mRNA.	460					Wnt receptor signaling pathway|organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGAAGGGCACGGGCTGCATCT	0.642000														41			23		0	0	1	0	0
EPYC	1833	broad.mit.edu	37	12	91363863	91363863	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:91363863G>A	uc001tbk.3	-	5	849	c.756C>T	c.(754-756)atC>atT	p.I252I		NM_004950	NP_004941	Q99645	EPYC_HUMAN	Homo sapiens epiphycan (EPYC), mRNA.	252					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						GTGGCAGAGGGATGTGGTCCA	0.453000														119			47		0	0	1	0	0
SLC36A1	206358	broad.mit.edu	37	5	150858926	150858926	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:150858926C>T	uc003luc.3	+	9	1252	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	SLC36A1_uc003lub.1_Silent_p.F345F|SLC36A1_uc010jhw.1_Silent_p.F345F	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 1 (SLC36A1), mRNA.	345					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	GGATCTTTTTCACCTACGCAC	0.522000														65			27		0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5080387	5080387	+	Silent	SNP	G	A	A	rs139722116		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:5080387G>A	uc010qyw.2	-	0	471	c.471C>T	c.(469-471)ttC>ttT	p.F157F		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F157F(2)		endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGGGAATGACGAAAATTAAAG	0.453000														15			6		0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43373499	43373499	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr21:43373499C>T	uc002yzw.3	-	0	501	c.259G>A	c.(259-261)Gag>Aag	p.E87K		NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	87						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						TCGGCCTCCTCGTTCAGGGCG	0.741000														8			8		0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71692653	71692653	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:71692653G>A	uc002fax.3	-	12	2057	c.2051C>T	c.(2050-2052)cCc>cTc	p.P684L	PHLPP2_uc002fav.3_Non-coding_Transcript|PHLPP2_uc010cgf.3_Missense_Mutation_p.P617L	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	684						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TATGGTTGTGGGAATGGTTTT	0.408000														67			29		0	0	1	0	0
AQPEP	206338	broad.mit.edu	37	5	115348085	115348085	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:115348085G>A	uc003kro.3	+	14	2426	c.2262G>A	c.(2260-2262)aaG>aaA	p.K754K	AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_Non-coding_Transcript|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	754					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										ACCTATTAAAGAGACTTAATT	0.284000														50			6		0	0	1	0	0
FOXN4	121643	broad.mit.edu	37	12	109719583	109719583	+	Missense_Mutation	SNP	G	A	A	rs140167217	by1000genomes	TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:109719583G>A	uc001toe.4	-	8	1028	c.923C>T	c.(922-924)tCc>tTc	p.S308F	FOXN4_uc009zvg.3_Missense_Mutation_p.S105F|FOXN4_uc001tof.4_Missense_Mutation_p.S128F	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	Homo sapiens forkhead box N4 (FOXN4), mRNA.	308					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(5)|lung(9)|ovary(2)	16						AGGCCGGTCGGAGATCAGCTT	0.662000														25			9		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559857	44559857	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:44559857G>A	uc002lcr.1	-	0	2132	c.1779C>T	c.(1777-1779)ttC>ttT	p.F593F	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	593	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTTCTTCCTTGAAGTCCTGGA	0.507000														50			18		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10448756	10448756	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:10448756C>T	uc010coi.3	-	4	540	c.412G>A	c.(412-414)Gag>Aag	p.E138K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E138K|MYH2_uc010coj.3_Missense_Mutation_p.E138K	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	138	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GTCACCACCTCGGGCTTATAC	0.517000														89			41		0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110866390	110866390	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:110866390C>T	uc003hzy.4	+	4	1351	c.899C>T	c.(898-900)cCa>cTa	p.P300L	EGF_uc011cfu.2_Missense_Mutation_p.P300L|EGF_uc011cfv.2_Missense_Mutation_p.P300L	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	300					DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GTAGTGCATCCACTTGCACAA	0.473000														17			9		0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164247357	164247357	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:164247357G>A	uc003iqm.2	-	1	815	c.350C>T	c.(349-351)cCt>cTt	p.P117L	NPY1R_uc021xtv.1_Missense_Mutation_p.P117L|NPY1R_uc011cjj.2_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	117					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTGCACAAAAGGATTCAACTT	0.448000														61			27		0	0	1	0	0
WIZ	58525	broad.mit.edu	37	19	15537946	15537946	+	Missense_Mutation	SNP	G	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:15537946G>T	uc002nbc.3	-	3	1473	c.1450C>A	c.(1450-1452)Ctg>Atg	p.L484M	WIZ_uc002nba.4_Missense_Mutation_p.L351M|WIZ_uc002nbb.4_Missense_Mutation_p.L310M	NM_021241	NP_067064	O95785	WIZ_HUMAN	Homo sapiens widely interspaced zinc finger motifs (WIZ), mRNA.	1167						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GGTGCAGCCAGGCCTGGGAAC	0.632000														27			15		4.7546e-09	4.80225e-09	1	1	0
BPIFB3	359710	broad.mit.edu	37	20	31647190	31647190	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:31647190G>A	uc002wym.1	+	2	288	c.288G>A	c.(286-288)aaG>aaA	p.K96K		NM_182658	NP_872599	P59826	LPLC3_HUMAN	Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA.	96	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										CTAGTCTGAAGATTGAGGAGC	0.602000														7			6		0	0	1	0	0
CCDC24	149473	broad.mit.edu	37	1	44459631	44459632	+	Silent	DNP	CC	TT	TT			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:44459631_44459632CC>TT	uc001clj.3	+	4	663_664	c.492_493CC>TT	c.(490-495)cacctg>caTTtg	p.164_165HL>HL	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc009vxc.3_Silent_p.128_129HL>HL	NM_152499	NP_689712	Q8N4L8	CCD24_HUMAN	Homo sapiens coiled-coil domain containing 24 (CCDC24), mRNA.	164										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGGCCAGACACCTGAGGTGAGG	0.545000														7			9		0	0	1	0	0
BGN	633	broad.mit.edu	37	X	152770229	152770229	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:152770229C>T	uc004fhr.2	+	1	376	c.140C>T	c.(139-141)tCg>tTg	p.S47L		NM_001711	NP_001702	P21810	PGS1_HUMAN	Homo sapiens biglycan (BGN), mRNA.	47						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTGACACCTCGGGCGTCCTG	0.627000														23			47		0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62903464	62903464	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:62903464G>A	uc010ihh.3	+	20	3576	c.3403G>A	c.(3403-3405)Ggg>Agg	p.G1135R	LPHN3_uc003hcq.4_Missense_Mutation_p.G1135R|LPHN3_uc003hct.3_Missense_Mutation_p.G519R	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	1113					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AAAAGAGTATGGGAAATGCCT	0.398000														44			15		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13830235	13830235	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:13830235G>A	uc003jfd.2	-	36	6191	c.6149C>T	c.(6148-6150)tCc>tTc	p.S2050F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2050	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGAATAATGGAAATTTGCTG	0.398000									Kartagener syndrome					25			13		0	0	1	0	0
GIN1	54826	broad.mit.edu	37	5	102423724	102423724	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:102423724G>A	uc003koa.1	-	7	1529	c.1447C>T	c.(1447-1449)Cgt>Tgt	p.R483C	GIN1_uc003kob.1_Missense_Mutation_p.R336C|GIN1_uc003koc.1_3'UTR	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN	Homo sapiens gypsy retrotransposon integrase 1 (GIN1), mRNA.	483					DNA integration		DNA binding	p.R483C(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		AATAGTTCACGATCCTTGCTT	0.363000														45			15		0	0	1	0	0
TTC8	123016	broad.mit.edu	37	14	89336529	89336529	+	Missense_Mutation	SNP	C	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:89336529C>A	uc010ath.3	+	10	1218	c.1084C>A	c.(1084-1086)Ctc>Atc	p.L362I	TTC8_uc001xxi.3_Missense_Mutation_p.L346I|TTC8_uc001xxj.3_Missense_Mutation_p.L336I|TTC8_uc001xxk.3_Missense_Mutation_p.L306I|TTC8_uc001xxl.3_Missense_Mutation_p.L107I|TTC8_uc010ati.3_Missense_Mutation_p.L148I|TTC8_uc010atj.3_Missense_Mutation_p.L81I	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	Homo sapiens tetratricopeptide repeat domain 8 (TTC8), transcript variant 2, mRNA.	372					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						AGAAATAGCTCTCCGGTTTTA	0.353000														80			29		3.69857e-22	3.76581e-22	1	1	0
OR2B3	442184	broad.mit.edu	37	6	29054447	29054447	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:29054447C>T	uc003nlx.3	-	0	644	c.579G>A	c.(577-579)aaG>aaA	p.K193K		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						CCTCAATAGGCTTTGTGTCAG	0.443000														36			35		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108011986	108011986	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:108011986C>T	uc001tmk.1	+	9	2804	c.2283C>T	c.(2281-2283)atC>atT	p.I761I	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.3_Silent_p.I761I|BTBD11_uc001tml.1_Silent_p.I298I	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	761						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGAGTGATATCCTGTCCCTGG	0.587000														44			17		0	0	1	0	0
CCDC64B	146439	broad.mit.edu	37	16	3085440	3085440	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:3085440G>A	uc002ctf.4	-	0	103	c.58C>T	c.(58-60)Ccc>Tcc	p.P20S	CCDC64B_uc002cte.4_5'Flank	NM_001103175	NP_001096645	A1A5D9	BICR2_HUMAN	Homo sapiens coiled-coil domain containing 64B (CCDC64B), mRNA.	20										breast(1)|endometrium(2)|large_intestine(1)	4						TCGCCGCTGGGAGAGGCGCCC	0.692000														34			20		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003771	122003771	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:122003771G>A	uc003eew.4	+	6	3438	c.3000G>A	c.(2998-3000)agG>agA	p.R1000R	CASR_uc003eev.4_Silent_p.R990R	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	990					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGGCCCACAGGAATTCTACGC	0.577000														21			12		0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102665596	102665596	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:102665596G>A	uc003vaq.2	-	5	836	c.409C>T	c.(409-411)Cct>Tct	p.P137S	FBXL13_uc010liq.1_5'UTR|FBXL13_uc010lir.1_Missense_Mutation_p.P137S|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Missense_Mutation_p.P137S|FBXL13_uc003vav.2_Non-coding_Transcript	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	137										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CTTCGTTCAGGAAAATTGGAT	0.308000														6			3		0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10085349	10085349	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:10085349C>T	uc004csx.4	+	10	1448	c.1250C>T	c.(1249-1251)cCc>cTc	p.P417L	WWC3_uc010nds.3_Missense_Mutation_p.P81L|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	417	Ser-rich.									NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GACCTCATTCCCTTCGACTCT	0.652000														31			26		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87214993	87214993	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:87214993G>A	uc003uiz.2	-	4	614	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	ABCB1_uc011khc.2_Missense_Mutation_p.R41C	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	41					G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.R41H(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTTGAATAGCGAAACTAAAAA	0.378000														17			10		0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72985152	72985152	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:72985152G>A	uc001xna.4	+	14	1708	c.1185G>A	c.(1183-1185)ggG>ggA	p.G395G	RGS6_uc021rvv.1_Silent_p.G360G|RGS6_uc010ttn.2_Silent_p.G395G|RGS6_uc021rvw.1_Silent_p.G395G|RGS6_uc021rvx.1_Silent_p.G395G|RGS6_uc021rvy.1_Silent_p.G358G|RGS6_uc021rvz.1_Silent_p.G358G|RGS6_uc001xmy.4_Silent_p.G395G|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Silent_p.G395G|RGS6_uc021rwa.1_Silent_p.G358G|RGS6_uc021rwb.1_Silent_p.G358G|RGS6_uc010ttp.1_Silent_p.G326G|RGS6_uc021rwc.1_Silent_p.G256G	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	395	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TGGCTCCAGGGGCTCCAAGTG	0.473000														45			14		0	0	1	0	0
ST6GALNAC4	27090	broad.mit.edu	37	9	130674849	130674849	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:130674849C>T	uc004bss.3	-	3	585	c.309G>A	c.(307-309)atG>atA	p.M103I	ST6GALNAC4_uc004bst.3_Missense_Mutation_p.M19I	NM_175039	NP_778205	Q9H4F1	SIA7D_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 (ST6GALNAC4), transcript variant 1, mRNA.	103					glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						GCGCCTGGTTCATGCGGAACA	0.662000														26			16		0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131696297	131696297	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:131696297C>T	uc004bwo.2	+	5	1209	c.276C>T	c.(274-276)ttC>ttT	p.F92F	NUP188_uc004bwn.2_Silent_p.F92F|NUP188_uc004bwm.2_Non-coding_Transcript|NUP188_uc004bwp.2_Silent_p.F92F	NM_001100876	NP_001094346	Q5SRE5	NU188_HUMAN	Homo sapiens phytanoyl-CoA dioxygenase domain containing 1 (PHYHD1), transcript variant 1, mRNA.	0					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CAGGAAATTTCCTGGTCCCTC	0.557000														54			24		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155505404	155505404	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:155505404C>T	uc003iod.1	-	5	2531	c.2473G>A	c.(2473-2475)Ggc>Agc	p.G825S		NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	825	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.G824G(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCATAGGAGCCCCCAGGGTAG	0.498000														71			42		0	0	1	0	0
FBP1	2203	broad.mit.edu	37	9	97365779	97365780	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:97365779_97365780CC>TT	uc004auw.4	-	6	1231_1232	c.900_901GG>AA	c.(898-903)aaggag>aaAAag	p.E301K	FBP1_uc010mrl.3_Missense_Mutation_p.E301K	NM_000507	NP_001121100	P09467	F16P1_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 1 (FBP1), transcript variant 1, mRNA.	301					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	AACACGGCCTCCTTCCCAGTGG	0.584000											OREG0019330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		41			14		0	0	1	0	0
C3orf67	200844	broad.mit.edu	37	3	58792147	58792147	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:58792147C>T	uc003dkt.1	-	13	1867	c.1458G>A	c.(1456-1458)atG>atA	p.M486I	C3orf67_uc003dkr.1_Non-coding_Transcript|C3orf67_uc003dks.1_Missense_Mutation_p.M427I	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	491										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		AAGGTGGGTTCATTTCTTTCT	0.343000														33			15		0	0	1	0	0
KBTBD3	143879	broad.mit.edu	37	11	105924095	105924095	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:105924095G>A	uc001pja.3	-	3	1961	c.1321C>T	c.(1321-1323)Ccc>Tcc	p.P441S	KBTBD3_uc001pjb.3_Missense_Mutation_p.P441S|KBTBD3_uc009yxm.3_Missense_Mutation_p.P362S	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 3 (KBTBD3), transcript variant 2, mRNA.	437										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		ATGCCTCTGGGTAATGGGCTA	0.388000														8			7		0	0	1	0	0
CORO7-PAM16	100529144	broad.mit.edu	37	16	4411379	4411379	+	Missense_Mutation	SNP	G	A	A	rs113335841		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:4411379G>A	uc002cwf.3	-	16	2113	c.1670C>T	c.(1669-1671)cCc>cTc	p.P557L	CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Missense_Mutation_p.P337L|CORO7-PAM16_uc002cwh.4_Missense_Mutation_p.P557L|CORO7-PAM16_uc010uxh.2_Missense_Mutation_p.P539L|CORO7-PAM16_uc010uxi.2_Missense_Mutation_p.P472L|CORO7-PAM16_uc002cwi.1_Missense_Mutation_p.P337L|CORO7-PAM16_uc010uxj.1_Non-coding_Transcript	NM_001201479	NP_001188408			Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.																		GAGGCGATGGGGGTCAAAGGG	0.682000														71			17		0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113538240	113538240	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:113538240C>T	uc022blv.1	+	9	1491	c.1357C>T	c.(1357-1359)Cta>Tta	p.L453L	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Silent_p.L372L|MUSK_uc022blu.1_Silent_p.L362L	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	453					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ACTGCCACATCTAGGTAACAC	0.458000														100			38		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78547339	78547339	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:78547339G>A	uc004akc.2	+	1	775	c.237G>A	c.(235-237)acG>acA	p.T79T	PCSK5_uc004ajy.2_Silent_p.T79T|PCSK5_uc004ajz.3_Silent_p.T79T|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	79					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ATAGCAGGACGATTAAAAGGT	0.453000														53			27		0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111291280	111291280	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:111291280G>A	uc001trv.1	+	2	276	c.81G>A	c.(79-81)gcG>gcA	p.A27A	CCDC63_uc009zvt.1_Intron|CCDC63_uc010sye.1_5'UTR|CCDC63_uc001trw.1_Intron	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	27										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						AGCAGCAGGCGGAGGCAGAGC	0.547000														35			12		0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48238577	48238577	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:48238577C>T	uc010rhs.2	+	0	216	c.216C>T	c.(214-216)tcC>tcT	p.S72S		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TCAGTTATTCCTCCACTATCG	0.453000														99			36		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	211093303	211093303	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:211093303G>A	uc001hib.2	-	6	1311	c.1141C>T	c.(1141-1143)Ctg>Ttg	p.L381L	KCNH1_uc001hic.2_Silent_p.L354L	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	381					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CACACCAGCAGGACCAGCACA	0.552000														109			32		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90121894	90121894	+	RNA	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:90121894G>A	uc010yts.2	+	28		c.3034G>A								Parts of antibodies, mostly variable regions.																		TGCATCTGTAGGAGACAGAGT	0.458000														116			44		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1893250	1893250	+	Splice_Site	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:1893250C>T	uc002qxe.3	-	16	3111	c.2284_splice	c.e16-1	p.N762_splice	MYT1L_uc002qxd.3_Splice_Site_p.N760_splice|MYT1L_uc010ewl.2_Splice_Site	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	762					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGTCAGGGTTCTGTCGGTAGA	0.592000														35			13		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124323035	124323035	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:124323035C>T	uc001uft.4	+	27	4606	c.4581C>T	c.(4579-4581)atC>atT	p.I1527I		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1527	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACCCCGTGATCAAGAGGTGCT	0.547000														11			7		0	0	1	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169104	50169104	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:50169104C>T	uc002ppa.3	+	0	706	c.24C>T	c.(22-24)ttC>ttT	p.F8F	IRF3_uc002poy.2_5'UTR|IRF3_uc021uxp.1_5'UTR|IRF3_uc021uxq.1_5'UTR|IRF3_uc002pot.2_5'UTR|IRF3_uc021uxr.1_5'UTR|IRF3_uc021uxs.1_5'UTR|IRF3_uc002pow.3_5'UTR|IRF3_uc021uxo.1_5'UTR|IRF3_uc002pou.3_5'UTR|IRF3_uc010end.2_5'UTR|IRF3_uc002poz.1_5'UTR|IRF3_uc010ene.1_5'Flank|BCL2L12_uc002ppb.3_Silent_p.F8F	NM_138639	NP_619580	Q9HB09	B2L12_HUMAN	Homo sapiens BCL2-like 12 (proline rich) (BCL2L12), transcript variant 1, mRNA.	8					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CTGGGCTGTTCCCGCCCCTAT	0.542000														53			11		0	0	1	0	0
ASS1	445	broad.mit.edu	37	9	133339499	133339499	+	Splice_Site	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:133339499G>A	uc010mza.3	+	6	1100	c.592_splice	c.e6-1	p.G198_splice	ASS1_uc004bzm.3_Splice_Site_p.G122_splice|ASS1_uc004bzn.3_Splice_Site_p.G122_splice	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	122					arginine biosynthetic process|urea cycle	cytosol	ATP binding|argininosuccinate synthase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GCATTGCAGGGGAACGATCAG	0.602000														31			13		0	0	1	0	0
POU5F1B	5462	broad.mit.edu	37	8	128428288	128428288	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:128428288G>A	uc003ysf.3	+	0	432	c.177G>A	c.(175-177)ggG>ggA	p.G59G	LOC727677_uc003ysc.1_Intron|LOC727677_uc003ysd.1_Intron|LOC727677_uc003yse.1_Intron|POU5F1B_uc011liu.1_Non-coding_Transcript	NM_001159542	NP_001153014	Q06416	P5F1B_HUMAN	Homo sapiens POU class 5 homeobox 1B (POU5F1B), mRNA.	59						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						AGGTGTGGGGGATTCCCCCTT	0.662000														15			4		0	0	1	0	0
OR2H1	26716	broad.mit.edu	37	6	29430096	29430096	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:29430096C>T	uc003nmi.3	+	2	993	c.550C>T	c.(550-552)Cga>Tga	p.R184*	OR2H1_uc003nmj.1_Nonsense_Mutation_p.R184*|OR2H1_uc010jri.2_Nonsense_Mutation_p.R106*|OR2H1_uc021ytr.1_Nonsense_Mutation_p.R184*	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	184				R -> G (in Ref. 6; AAC00188).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R184P(1)		large_intestine(5)|lung(12)	17						ATCTCTGATTCGACTCTCCTG	0.502000														188			49		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10547720	10547720	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:10547720G>A	uc002gmq.2	-	13	1446	c.1358C>T	c.(1357-1359)cCa>cTa	p.P453L		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	453	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GTGTTGTCTTGGAAGCTTCGT	0.378000														51			30		0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002376	98002376	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:98002376C>T	uc003dsj.1	+	0	645	c.645C>T	c.(643-645)acC>acT	p.T215T		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T215A(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						AGGTATTCACCATTGTGACAG	0.358000														18			10		0	0	1	0	0
HBG1	3047	broad.mit.edu	37	11	5275568	5275568	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:5275568C>T	uc001mai.1	-	1	706	c.269G>A	c.(268-270)aGt>aAt	p.S90N	HBG1_uc001mak.1_Non-coding_Transcript|HBG1_uc001maj.1_Missense_Mutation_p.S90N	NM_000559	NP_000550	P69891	HBG1_HUMAN	Homo sapiens hemoglobin, gamma A (HBG1), mRNA.	90					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGCAGTTCACTCAGCTGGGC	0.512000														81			18		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40713470	40713470	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:40713470G>A	uc002xkg.3	-	28	4172	c.3988C>T	c.(3988-3990)Cgt>Tgt	p.R1330C	PTPRT_uc010ggj.3_Missense_Mutation_p.R1349C|PTPRT_uc010ggi.3_Missense_Mutation_p.R533C	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1330	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGACTATACGATAACCATCC	0.587000														37			11		0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054669	29054669	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:29054669G>A	uc003nlx.3	-	0	422	c.357C>T	c.(355-357)tcC>tcT	p.S119S		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						ATCTGTCAAAGGACATAACAG	0.488000														51			12		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9440326	9440326	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:9440326G>A	uc021wam.1	+	30	3096	c.3081G>A	c.(3079-3081)atG>atA	p.M1027I	PLCB4_uc010gbx.3_Missense_Mutation_p.M1039I|PLCB4_uc021wal.1_Missense_Mutation_p.M1027I|PLCB4_uc002wnh.3_Missense_Mutation_p.M874I	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	1027					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GGTCAGAAATGATCAATACCC	0.493000														28			16		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102449925	102449925	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:102449925C>T	uc001yks.2	+	6	1604	c.1440C>T	c.(1438-1440)atC>atT	p.I480I		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	480	Interaction with DYNC1I2 (By similarity).|Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GAGCTGTTATCGTCAGGGTCC	0.423000														20			6		0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89259167	89259167	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:89259167G>A	uc003dqy.3	+	2	536	c.311G>A	c.(310-312)cGa>cAa	p.R104Q	EPHA3_uc003dqx.1_Missense_Mutation_p.R104Q|EPHA3_uc021xbf.1_Missense_Mutation_p.R104Q	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	104						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTCACTCTACGAGACTGCAAT	0.443000										TSP Lung(6;0.00050)				59			24		0	0	1	0	0
OR5A2	219981	broad.mit.edu	37	11	59189677	59189677	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:59189677G>A	uc010rkt.2	-	0	750	c.750C>T	c.(748-750)acC>acT	p.T250T		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 2 (OR5A2), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						CATAGAAGAGGGTCACAGCAG	0.488000														24			8		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215914376	215914376	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:215914376G>A	uc002vew.3	-	5	887	c.667C>T	c.(667-669)Caa>Taa	p.Q223*	ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	223					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTAGTTCTTGGAGAGAAGAC	0.388000														27			8		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57328009	57328009	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:57328009C>T	uc002qnu.2	-	6	2152	c.1801G>A	c.(1801-1803)Gaa>Aaa	p.E601K	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E572K|PEG3_uc002qnv.2_Missense_Mutation_p.E601K|PEG3_uc002qnw.2_Missense_Mutation_p.E477K|PEG3_uc002qnx.2_Missense_Mutation_p.E475K|PEG3_uc010etr.2_Missense_Mutation_p.E601K	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	601					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CGCtcacgttcacgttcacgt	0.458000														21			16		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141812742	141812742	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:141812742G>A	uc002tvj.1	-	9	2467	c.1495C>T	c.(1495-1497)Cgg>Tgg	p.R499W	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	499					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGACAAGTCCGAGTTTTGTAA	0.448000										TSP Lung(27;0.18)				37			14		0	0	1	0	0
SLC35G5	83650	broad.mit.edu	37	8	11189261	11189261	+	Missense_Mutation	SNP	C	G	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:11189261C>G	uc003wtp.1	+	0	767	c.646C>G	c.(646-648)Ccc>Gcc	p.P216A		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	Homo sapiens solute carrier family 35, member G5 (SLC35G5), mRNA.	216						integral to membrane											TCTGCACTTTCCCTCCTGCCT	0.627000														126			28		0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114177625	114177625	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:114177625C>T	uc001kzu.3	+	13	1520	c.1408C>T	c.(1408-1410)Cgt>Tgt	p.R470C	ACSL5_uc001kzs.3_Missense_Mutation_p.R414C|ACSL5_uc001kzt.3_Missense_Mutation_p.R414C|ACSL5_uc009xxz.3_Missense_Mutation_p.R414C|ACSL5_uc010qrj.2_Missense_Mutation_p.R196C	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	414					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.R470C(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CGGAAGGGTTCGTGTAATTGT	0.473000														29			30		0	0	1	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32411032	32411032	+	Silent	SNP	C	T	T	rs61117681		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:32411032C>T	uc003obh.3	+	2	508	c.399C>T	c.(397-399)ttC>ttT	p.F133F	HLA-DRA_uc003obi.3_Intron	NM_019111	NP_061984	P01903	DRA_HUMAN	Homo sapiens major histocompatibility complex, class II, DR alpha (HLA-DRA), mRNA.	133	Alpha-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to plasma membrane|late endosome membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						TCATCTGTTTCATAGACAAGT	0.517000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of					60			13		0	0	1	0	0
DPRX	503834	broad.mit.edu	37	19	54140039	54140039	+	Nonsense_Mutation	SNP	C	T	T	rs150237904		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:54140039C>T	uc002qcf.1	+	2	424	c.373C>T	c.(373-375)Cga>Tga	p.R125*		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	Homo sapiens divergent-paired related homeobox (DPRX), mRNA.	125						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CACGGGTCATCGAGTCCCCTC	0.567000														62			25		0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128858011	128858011	+	Missense_Mutation	SNP	A	G	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:128858011A>G	uc009zcp.3	-	11	1163	c.1163T>C	c.(1162-1164)gTt>gCt	p.V388A	ARHGAP32_uc009zcq.2_Missense_Mutation_p.V348A|ARHGAP32_uc009zco.3_5'UTR|ARHGAP32_uc001qez.3_Missense_Mutation_p.V39A|ARHGAP32_uc001qfb.3_Missense_Mutation_p.V173A	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	388	Rho-GAP.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	p.S387C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GCTTTGAAGAACCTGCGGCAC	0.383000														18			15		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106431503	106431503	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:106431503G>A	uc003ymd.3	+	1	195	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	58					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCTGAGCTGCGAAGAAGTGGA	0.358000														86			23		0	0	1	0	0
GGA1	26088	broad.mit.edu	37	22	38016337	38016337	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr22:38016337C>T	uc003atc.3	+	4	783	c.396C>T	c.(394-396)atC>atT	p.I132I	GGA1_uc003ate.3_Silent_p.I132I|GGA1_uc003atd.3_Silent_p.I132I|GGA1_uc003atf.3_Silent_p.I59I	NM_013365	NP_001166159	Q9UJY5	GGA1_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 1 (GGA1), transcript variant 1, mRNA.	132	Interaction with ARF3.|VHS.				intracellular protein transport|vesicle-mediated transport	Golgi apparatus part|clathrin adaptor complex|endosome membrane	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					AGGTGAAAATCGCAGAGGCCT	0.612000														124			25		0	0	1	0	0
IL11	3589	broad.mit.edu	37	19	55877452	55877452	+	Missense_Mutation	SNP	G	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:55877452G>T	uc002qks.1	-	4	659	c.523C>A	c.(523-525)Cac>Aac	p.H175N	FAM71E2_uc002qkr.2_5'Flank|FAM71E2_uc002qkq.2_5'Flank|IL11_uc010yfx.1_Missense_Mutation_p.H96N	NM_000641	NP_000632	P20809	IL11_HUMAN	Homo sapiens interleukin 11 (IL11), mRNA.	175				H -> L (in Ref. 5; AAH12506).	B cell differentiation|fat cell differentiation|megakaryocyte differentiation|negative regulation of hormone secretion|platelet activation|positive regulation of MAPKKK cascade|positive regulation of cell proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity|growth factor activity|interleukin-11 receptor binding			large_intestine(1)|skin(1)	2	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	Oprelvekin(DB00038)	AGGATGGCGTGGGCGGCCCTG	0.751000														10			4		0.00909568	0.00909568	1	1	0
TAF6	6878	broad.mit.edu	37	7	99711924	99711924	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:99711924G>A	uc003uth.3	-	0	217	c.80C>T	c.(79-81)tCt>tTt	p.S27F	TAF6_uc003utg.3_5'Flank|TAF6_uc003utm.3_Intron|TAF6_uc003uti.3_Intron|TAF6_uc003utk.3_Intron|TAF6_uc011kji.2_Intron	NM_139315	NP_647476	P49848	TAF6_HUMAN	Homo sapiens TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa (TAF6), transcript variant 2, mRNA.	642					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGAAGAAAAAGAAACGTGAGA	0.587000														11			4		0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50641240	50641240	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:50641240G>A	uc001wxs.4	-	7	1098	c.1000C>T	c.(1000-1002)Cgt>Tgt	p.R334C	SOS2_uc010tql.2_Intron|SOS2_uc001wxt.2_Missense_Mutation_p.R22C	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	334	DH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					AGGACATAACGAACTGCCTCT	0.398000														18			3		0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90335775	90335776	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:90335775_90335776GG>AA	uc002bop.4	-	16	2559_2560	c.2267_2268CC>TT	c.(2266-2268)gcc>gTT	p.A756V		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	756	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CGGTGCTGATGGCATTAACCTC	0.569000														25			7		0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59283086	59283086	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:59283086G>A	uc010rkv.2	+	0	701	c.701G>A	c.(700-702)aGg>aAg	p.R234K		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						GAAGGCAGGAGGAAAGCCATC	0.517000														113			66		0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57648316	57648316	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:57648316C>T	uc002qnz.1	-	3	552	c.166G>A	c.(166-168)Gat>Aat	p.D56N		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGATCACATCGGGTTTGGTG	0.507000														57			25		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22154193	22154193	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:22154193G>A	uc021urr.1	-	3	3792	c.3643C>T	c.(3643-3645)Cac>Tac	p.H1215Y	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTTTCTTGTGATATCTAAGG	0.378000														16			10		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105920824	105920824	+	Missense_Mutation	SNP	A	C	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:105920824A>C	uc001kxw.3	-	26	3627	c.3511T>G	c.(3511-3513)Tta>Gta	p.L1171V	WDR96_uc009xxq.3_Missense_Mutation_p.L479V	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	1171										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCTTCATTTAACTCCTTTACT	0.323000														7			9		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68950455	68950455	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:68950455C>T	uc003xxv.1	+	6	794	c.767C>T	c.(766-768)tCt>tTt	p.S256F	PREX2_uc003xxu.1_Missense_Mutation_p.S256F|PREX2_uc011lez.1_Missense_Mutation_p.S191F	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	256	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTGAAAATTTCTTCTGGAAAT	0.393000														42			10		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763773	92763773	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:92763773C>T	uc003umh.1	-	4	2728	c.1512G>A	c.(1510-1512)ctG>ctA	p.L504L	SAMD9L_uc003umj.1_Silent_p.L504L|SAMD9L_uc003umi.1_Silent_p.L504L|SAMD9L_uc010lfb.1_Silent_p.L504L|SAMD9L_uc003umk.1_Silent_p.L504L|SAMD9L_uc010lfc.1_Silent_p.L504L|SAMD9L_uc010lfd.1_Silent_p.L504L|SAMD9L_uc022ahh.1_Silent_p.L504L	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	504										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTCGCTTTTCAGGTCTGATC	0.373000														68			22		0	0	1	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22900731	22900731	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:22900731G>A	uc003xcu.2	-	1	463	c.170C>T	c.(169-171)aCc>aTc	p.T57I	TNFRSF10B_uc011kzq.1_Intron|TNFRSF10B_uc003xcv.2_5'UTR|TNFRSF10B_uc003xct.2_Missense_Mutation_p.T57I	NM_003842	NP_003833	O14763	TR10B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10b (TNFRSF10B), transcript variant 1, mRNA.	57					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	TRAIL binding|caspase activator activity|receptor activity			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		GTCTTGTTGGGTGATCAGAGC	0.567000														39			12		0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107288960	107288960	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:107288960G>A	uc011lvn.2	-	0	531	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TCTCGCATAAGAAATGATTAA	0.378000														62			26		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56044518	56044518	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:56044518C>T	uc021wzo.1	-	7	2019	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K	ERC2_uc003dhr.1_Missense_Mutation_p.E627K|ERC2_uc003dht.1_Missense_Mutation_p.E98K	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	627						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TTGACCTTCTCTTTCAGGTCT	0.403000														55			25		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38875853	38875853	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:38875853C>T	uc021yzh.1	+	63	9579	c.9470C>T	c.(9469-9471)tCa>tTa	p.S3157L	DNAH8_uc003ooe.2_Missense_Mutation_p.S2940L|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TACTTCATTTCAAGATCAAGG	0.358000														22			5		0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185229341	185229341	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:185229341C>T	uc003fpm.3	-	8	1349	c.1239G>A	c.(1237-1239)atG>atA	p.M413I	LIPH_uc010hyh.3_Missense_Mutation_p.M379I	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	413					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity	p.R412Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			ACCTTAACTTCATTCGGAGAA	0.458000														49			17		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77354359	77354359	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:77354359G>A	uc004ajl.1	-	34	5732	c.5494C>T	c.(5494-5496)Caa>Taa	p.Q1832*	TRPM6_uc004ajk.1_Nonsense_Mutation_p.Q1827*|TRPM6_uc022bib.1_Nonsense_Mutation_p.Q1827*|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Nonsense_Mutation_p.Q783*|TRPM6_uc010mpd.1_Nonsense_Mutation_p.Q665*|TRPM6_uc010mpe.1_Nonsense_Mutation_p.Q379*|TRPM6_uc004ajj.1_Nonsense_Mutation_p.Q788*	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1832	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTTTGTTGTTGAATTTCCTAC	0.373000														38			22		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48896891	48896891	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:48896891C>T	uc002rwp.2	+	8	3235	c.3121C>T	c.(3121-3123)Cgg>Tgg	p.R1041W	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.R1041W|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.R994W|STON1-GTF2A1L_uc002rws.2_Missense_Mutation_p.R337W|STON1-GTF2A1L_uc010yom.2_Missense_Mutation_p.R303W	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	994					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		p.R1041Q(1)|p.R1041L(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTTAAGCATTCGGGTTACTGA	0.308000														51			30		0	0	1	0	0
SENP1	29843	broad.mit.edu	37	12	48482657	48482657	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:48482657G>A	uc001rqx.3	-	4	753	c.307C>T	c.(307-309)Cca>Tca	p.P103S	SENP1_uc001rqw.3_Missense_Mutation_p.P103S|SENP1_uc001rqy.3_5'UTR|SENP1_uc001rqz.3_5'UTR|SENP1_uc009zkx.3_Missense_Mutation_p.P103S	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 1 (SENP1), mRNA.	103	Ser-rich.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	SUMO-specific protease activity|endopeptidase activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				CTTGACGATGGGGTAGAATTT	0.398000														8			5		0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117635465	117635465	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:117635465C>T	uc001egy.3	+	17	2938	c.2918C>T	c.(2917-2919)tCc>tTc	p.S973F	MIR942_uc021osm.1_5'Flank	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	973					RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TCCACTGTTTCCCTTAACGGC	0.483000														43			51		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54604068	54604068	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:54604068G>A	uc003dhf.3	+	7	873	c.825G>A	c.(823-825)gcG>gcA	p.A275A	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.A181A|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Silent_p.A9A	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	275	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGACTATCGCGAAGCAAACAG	0.473000														56			31		0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20199320	20199320	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:20199320C>T	uc003sus.4	-	4	973	c.664G>A	c.(664-666)Gga>Aga	p.G222R	MACC1_uc010kug.3_Missense_Mutation_p.G222R	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	222					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						ACTGACCCTCCTTGATGGTTT	0.502000														30			7		0	0	1	0	0
NANOG	79923	broad.mit.edu	37	12	7947346	7947346	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:7947346G>A	uc009zfy.1	+	3	789	c.573G>A	c.(571-573)ggG>ggA	p.G191G		NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN	Homo sapiens Nanog homeobox (NANOG), mRNA.	191					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		ACCCGACTGGGAACCTTCCAA	0.532000														16			5		0	0	1	0	0
GH1	2688	broad.mit.edu	37	17	61994716	61994716	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:61994716G>A	uc002jdj.3	-	4	669	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L	GH1_uc002jdi.3_Silent_p.L188L|GH1_uc002jdk.3_Silent_p.L163L|GH1_uc002jdl.3_Silent_p.L108L|GH1_uc002jdm.3_3'UTR|GH1_uc002jdn.3_Silent_p.S156S	NM_000515	NP_000506	P01241	SOMA_HUMAN	Homo sapiens growth hormone 1 (GH1), transcript variant 1, mRNA.	203					JAK-STAT cascade|glucose transport|growth hormone receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						ACGATGCGCAGGAATGTCTCG	0.592000														45			33		0	0	1	0	0
RBM39	9584	broad.mit.edu	37	20	34292434	34292434	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:34292434G>A	uc002xeb.3	-	16	1971	c.1562C>T	c.(1561-1563)gCa>gTa	p.A521V	RBM39_uc002xdz.3_Missense_Mutation_p.A497V|RBM39_uc010gfn.3_Missense_Mutation_p.A364V|RBM39_uc002xef.3_Missense_Mutation_p.A358V|RBM39_uc010zvn.2_Missense_Mutation_p.A364V|RBM39_uc002xec.3_Missense_Mutation_p.A515V|RBM39_uc010zvm.2_Missense_Mutation_p.A493V|RBM39_uc002xeg.3_Missense_Mutation_p.A499V|RBM39_uc002xed.3_Missense_Mutation_p.A239V|RBM39_uc002xee.3_Missense_Mutation_p.A364V	NM_184234	NP_909122	Q14498	RBM39_HUMAN	Homo sapiens RNA binding motif protein 39 (RBM39), transcript variant 1, mRNA.	521	Interaction with NCOA6 (By similarity).				RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nuclear speck	RNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TAGCTGTGTTGCTGTCATAGA	0.353000														49			22		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103338482	103338482	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:103338482C>T	uc022ajr.1	-	9	1121	c.961G>A	c.(961-963)Ggg>Agg	p.G321R	RELN_uc022ajq.1_Missense_Mutation_p.G321R|RELN_uc010liz.3_Missense_Mutation_p.G321R	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	321					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACATTCTCCCCTTTGGCGTCC	0.458000														103			49		0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334515	37334515	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr22:37334515G>A	uc003aqa.4	+	13	2882	c.2665G>A	c.(2665-2667)Gag>Aag	p.E889K	CSF2RB_uc003aqc.4_Missense_Mutation_p.E895K	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	889					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GCCCCCTTGGGAGGTCAACAA	0.617000														78			14		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77684045	77684045	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:77684045G>A	uc011bgk.2	+	24	4440	c.3797G>A	c.(3796-3798)aGa>aAa	p.R1266K	ROBO2_uc021xat.1_Missense_Mutation_p.R1278K|ROBO2_uc003dpy.4_Missense_Mutation_p.R1262K|ROBO2_uc003dpz.3_Missense_Mutation_p.R1327K|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1262					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.T1266N(2)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCCTCTCAAAGACCTCGACCT	0.458000														85			26		0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17406287	17406287	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:17406287G>A	uc011kye.2	+	3	801	c.753G>A	c.(751-753)gtG>gtA	p.V251V	SLC7A2_uc011kyc.2_Silent_p.V211V|SLC7A2_uc011kyd.2_Silent_p.V251V	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	211					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CTGGGTTTGTGAAAGGAAATG	0.363000														80			27		0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92278808	92278808	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:92278808G>A	uc001xzu.4	-	2	340	c.149C>T	c.(148-150)tCt>tTt	p.S50F	TC2N_uc001xzt.4_Missense_Mutation_p.S50F|TC2N_uc010auc.3_Missense_Mutation_p.S50F|TC2N_uc001xzv.4_Missense_Mutation_p.S50F	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	50						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		AGGCTTTACAGAAACAGAAGT	0.373000														33			15		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85642710	85642710	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:85642710G>A	uc003hpd.3	-	46	7865	c.7457C>T	c.(7456-7458)cCt>cTt	p.P2486L	WDFY3_uc003hpe.1_Missense_Mutation_p.P97L	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	2486						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCGTTTTAGAGGAGGCTTGAC	0.498000														36			8		0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62378686	62378686	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:62378686G>A	uc010rly.1	-	2	633	c.325C>T	c.(325-327)Cct>Tct	p.P109S	EML3_uc001ntr.1_Missense_Mutation_p.P81S|EML3_uc001nts.1_Missense_Mutation_p.P81S|EML3_uc001ntt.1_Silent_p.P5P|EML3_uc001ntu.1_Missense_Mutation_p.P109S|EML3_uc009yny.1_5'UTR|ROM1_uc001ntv.3_5'Flank			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	109						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GCCCCCTGAGGGGCTGGGGGT	0.687000														18			12		0	0	1	0	0
CPXCR1	53336	broad.mit.edu	37	X	88009059	88009059	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:88009059G>A	uc022bzq.1	+	0	644	c.644G>A	c.(643-645)gGa>gAa	p.G215E	CPXCR1_uc004efd.4_Missense_Mutation_p.G215E|CPXCR1_uc004efc.4_Missense_Mutation_p.G215E	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	Homo sapiens CPX chromosome region, candidate 1 (CPXCR1), transcript variant 1, mRNA.	215						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						ATGACATCAGGAAAATTTTGC	0.413000														3			11		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50735304	50735304	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:50735304G>A	uc010enu.1	+	9	1138	c.1091G>A	c.(1090-1092)gGa>gAa	p.G364E	MYH14_uc002prq.1_Missense_Mutation_p.G364E|MYH14_uc002prr.1_Missense_Mutation_p.G356E	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	356	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CGGGTCCTGGGATTCAGCCAC	0.657000														37			19		0	0	1	0	0
RQCD1	9125	broad.mit.edu	37	2	219449406	219449406	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:219449406C>T	uc010zkh.2	+	3	392	c.392C>T	c.(391-393)cCc>cTc	p.P131L	RQCD1_uc002vih.1_Missense_Mutation_p.P131L|RQCD1_uc010zki.2_Missense_Mutation_p.P131L	NM_005444	NP_005435	Q92600	RCD1_HUMAN	Homo sapiens RCD1 required for cell differentiation1 homolog (S. pombe) (RQCD1), mRNA.	131					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAAACACGTCCCTTTGAGTAT	0.423000														114			61		0	0	1	0	0
TLR6	10333	broad.mit.edu	37	4	38830672	38830672	+	Silent	SNP	T	C	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:38830672T>C	uc010ifg.2	-	1	544	c.423A>G	c.(421-423)gaA>gaG	p.E141E	TLR6_uc003gtm.3_Silent_p.E141E	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	141					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of interleukin-6 biosynthetic process|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTTGCCAAATTCCTTACAGA	0.388000														29			19		0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	47000210	47000210	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:47000210C>T	uc001jec.3	+	2	1465	c.1330C>T	c.(1330-1332)Ctg>Ttg	p.L444L	GPRIN2_uc021ppt.1_Silent_p.L444L	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	444										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CATGCAGTCCCTGCGGCGCCC	0.711000														4			3		0	0	1	0	0
WSCD1	23302	broad.mit.edu	37	17	6023850	6023850	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:6023850C>T	uc010cli.3	+	8	1976	c.1597C>T	c.(1597-1599)Cgg>Tgg	p.R533W	WSCD1_uc002gcn.3_Missense_Mutation_p.R533W|WSCD1_uc002gco.3_Missense_Mutation_p.R533W|WSCD1_uc010clj.3_Missense_Mutation_p.R224W	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	Homo sapiens WSC domain containing 1 (WSCD1), mRNA.	533						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GCGGCGCGGCCGGCGCTCCCA	0.632000														74			23		0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67406324	67406324	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:67406324G>A	uc002lkl.3	+	5	920	c.723G>A	c.(721-723)atG>atA	p.M241I		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	Homo sapiens docking protein 6 (DOK6), mRNA.	241							insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TGCTAGAAATGGAACAGAAGG	0.448000														65			24		0	0	1	0	0
GALP	85569	broad.mit.edu	37	19	56691956	56691956	+	Splice_Site	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:56691956G>A	uc002qmo.1	+	3	170	c.88_splice	c.e3-1	p.G30_splice	GALP_uc010eti.2_Intron	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN	Homo sapiens galanin-like peptide (GALP), transcript variant 1, mRNA.	30					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		TCTATCCAGGGACGAGGAGGC	0.602000														22			12		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69885528	69885528	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:69885528G>A	uc011cao.1	-	2	566	c.440C>T	c.(439-441)tCc>tTc	p.S147F	UGT2B10_uc011can.1_Intron			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	191					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AGGTACGTAGGAAGGAGGGAA	0.403000														59			19		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9083160	9083160	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:9083160G>A	uc002mkp.3	-	0	8859	c.8655C>T	c.(8653-8655)atC>atT	p.I2885I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2886	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGACTGTGGGATCCCCCAAG	0.527000														18			6		0	0	1	0	0
MED23	9439	broad.mit.edu	37	6	131926539	131926539	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:131926539G>A	uc003qcs.1	-	13	1628	c.1454C>T	c.(1453-1455)tCa>tTa	p.S485L	MED23_uc003qcq.3_Missense_Mutation_p.S491L|MED23_uc011eca.1_Missense_Mutation_p.S126L|MED23_uc003qct.1_Missense_Mutation_p.S491L|MED23_uc011ecb.1_Intron	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	485					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AAAACATTCTGAATTTGTAGA	0.363000														14			4		0	0	1	0	0
RGS21	431704	broad.mit.edu	37	1	192335244	192335244	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:192335244C>T	uc001gsh.3	+	4	623	c.449C>T	c.(448-450)cCt>cTt	p.P150L		NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN	Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA.	150					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						AAATGGCTCCCTTTTTTGTGA	0.333000														32			7		0	0	1	0	0
KIAA1009	22832	broad.mit.edu	37	6	84859352	84859352	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:84859352G>A	uc010kbp.3	-	23	3797	c.3700C>T	c.(3700-3702)Ctt>Ttt	p.L1234F	KIAA1009_uc003pkj.4_Missense_Mutation_p.L1158F|KIAA1009_uc003pki.4_Missense_Mutation_p.L620F	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	1234					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTTTGGCAAAGGAGTTTCTCT	0.373000														42			16		0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73073594	73073594	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:73073594C>T	uc001otu.3	+	13	4832	c.4811C>T	c.(4810-4812)cCg>cTg	p.P1604L		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	1604					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GAGCCGGGGCCGCAGCCCTGC	0.716000														34			3		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11550485	11550485	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:11550485G>A	uc002gne.3	+	11	2135	c.2067G>A	c.(2065-2067)acG>acA	p.T689T		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	689	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCCAGAGACGAAGGAGATCA	0.443000														62			31		0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158267040	158267040	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:158267040G>A	uc010jip.3	-	6	935	c.633C>T	c.(631-633)ttC>ttT	p.F211F	EBF1_uc011ddw.2_Silent_p.F78F|EBF1_uc011ddx.2_Silent_p.F211F|EBF1_uc003lxl.4_Silent_p.F188F	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	211					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GACCCACCTGGAATCTCCGCA	0.383000			T	HMGA2	lipoma									25			29		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121340728	121340728	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:121340728G>A	uc001pxx.3	+	1	427	c.298G>A	c.(298-300)Gat>Aat	p.D100N		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	100					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TAGTCTGAATGATTCCCACAA	0.498000														21			15		0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127854	117127854	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:117127854G>A	uc003pxj.1	-	2	1036	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Silent_p.S338S	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	338					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TTTGAAGAAAGGAATGGAAAG	0.408000														55			16		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22202223	22202223	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:22202223G>A	uc009vqd.3	-	24	3244	c.3204C>T	c.(3202-3204)ccC>ccT	p.P1068P	HSPG2_uc001bfj.3_Silent_p.P1067P	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	1067	Laminin IV type A 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCTGCCCATCGGGCCGCTGCC	0.652000														47			77		0	0	1	0	0
OR2S2	56656	broad.mit.edu	37	9	35957391	35957391	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:35957391C>T	uc011lpi.2	-	0	761	c.705G>A	c.(703-705)agG>agA	p.R235R		NM_019897	NP_063950	Q9NQN1	OR2S1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily S, member 2 (OR2S2), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			AGACCTTTTTCCTCCCCTCAG	0.507000														64			38		0	0	1	0	0
THSD1	55901	broad.mit.edu	37	13	52952393	52952393	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr13:52952393G>A	uc001vgo.3	-	4	2257	c.1712C>T	c.(1711-1713)cCc>cTc	p.P571L	THSD1_uc001vgp.3_Missense_Mutation_p.P518L|THSD1_uc010tgz.2_Missense_Mutation_p.P192L	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.	571						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CAAATCTAAGGGAGCGCTGGG	0.552000														90			41		0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31533832	31533832	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr22:31533832C>T	uc003aka.3	-	3	1059	c.930G>A	c.(928-930)aaG>aaA	p.K310K		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	310					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GTGGTGGCCCCTTCCGAAGGT	0.647000														131			69		0	0	1	0	0
DCDC5	100506627	broad.mit.edu	37	11	30944142	30944142	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:30944142G>A	uc009yjk.1	-	11	1454	c.1385C>T	c.(1384-1386)tCc>tTc	p.S462F	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Missense_Mutation_p.S121F	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	93					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						CTGAGCAATGGACAGGTCAGG	0.373000														10			9		0	0	1	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33806727	33806727	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:33806727C>T	uc002hjn.3	-	2	1303	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	SLFN12L_uc021tuy.1_Missense_Mutation_p.E168K	NM_001195790	NP_001182719	Q6IEE8	SN12L_HUMAN	Homo sapiens schlafen family member 12-like (SLFN12L), mRNA.	200						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						CCAGTTTTTTCCATGTCTTTG	0.453000														25			7		0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55063034	55063034	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:55063034C>T	uc001cxm.2	+	6	886	c.710C>T	c.(709-711)aCc>aTc	p.T237I	ACOT11_uc001cxj.2_Missense_Mutation_p.T115I|ACOT11_uc001cxk.3_Missense_Mutation_p.T203I|ACOT11_uc001cxl.2_Missense_Mutation_p.T237I	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.	237	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CAGGGCAACACCTTTGGGGGC	0.627000														8			15		0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26806152	26806152	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:26806152G>A	uc001zbb.3	-	8	1278	c.1175C>T	c.(1174-1176)cCt>cTt	p.P392L	GABRB3_uc021sgg.1_Missense_Mutation_p.P265L|GABRB3_uc021sgh.1_Missense_Mutation_p.P251L|GABRB3_uc001zaz.3_Missense_Mutation_p.P336L|GABRB3_uc001zba.3_Missense_Mutation_p.P336L	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	336					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CTGCCTTTGAGGGCCTCTTCC	0.498000														52			28		0	0	1	0	0
CCDC160	347475	broad.mit.edu	37	X	133379594	133379594	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:133379594G>A	uc011mvj.2	+	1	1085	c.764G>A	c.(763-765)gGa>gAa	p.G255E		NM_001101357	NP_001094827	A6NGH7	CC160_HUMAN	Homo sapiens coiled-coil domain containing 160 (CCDC160), mRNA.	255										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						ACCGAGGTTGGAAATGTGCTC	0.393000														3			6		0	0	1	0	0
TRBV2	28620	broad.mit.edu	37	7	142001149	142001149	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:142001149G>A	uc011kro.1	+	1	286	c.241G>A	c.(241-243)Gat>Aat	p.D81N	TRBV2_uc022amx.1_Non-coding_Transcript|TRBV2_uc022amy.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		TGAAATATTCGATGATCAATT	0.408000														10			5		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141727470	141727470	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:141727470G>A	uc003vwy.3	+	9	1210	c.1156G>A	c.(1156-1158)Gaa>Aaa	p.E386K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	386	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAGTCGTTACGAATATGGAAC	0.458000														28			15		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087650	92087650	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:92087650G>A	uc001pdj.4	+	0	2389	c.2372G>A	c.(2371-2373)cGa>cAa	p.R791Q		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	791	Cadherin 7.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCATGGATCGAGAACACACA	0.403000										TCGA Ovarian(4;0.039)				45			21		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545960	82545960	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:82545960C>T	uc003uhx.2	-	6	11631	c.11342G>A	c.(11341-11343)cGa>cAa	p.R3781Q	PCLO_uc003uhv.2_Missense_Mutation_p.R3781Q|PCLO_uc010lec.3_Missense_Mutation_p.R746Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3712					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R3781*(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGTTTCTTTCGAAGTTTTGC	0.443000														20			11		0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944314	55944314	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:55944314C>T	uc010rjb.2	+	0	221	c.221C>T	c.(220-222)tCa>tTa	p.S74L		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GCCTGCTATTCATCTGCAATT	0.443000														72			30		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9404515	9404515	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:9404515C>T	uc021wam.1	+	23	2419	c.2404C>T	c.(2404-2406)Cga>Tga	p.R802*	PLCB4_uc010gbw.1_Nonsense_Mutation_p.R802*|PLCB4_uc010gbx.3_Nonsense_Mutation_p.R814*|PLCB4_uc021wal.1_Nonsense_Mutation_p.R802*|PLCB4_uc002wnh.3_Nonsense_Mutation_p.R649*	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	802					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CATTTCCCTTCGAAATGAGGG	0.403000														16			14		0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53989592	53989592	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:53989592G>A	uc011dxa.2	+	2	607	c.574G>A	c.(574-576)Ggg>Agg	p.G192R	MLIP_uc003pcf.2_Missense_Mutation_p.G181R|MLIP_uc003pcg.4_Missense_Mutation_p.G181R|MLIP_uc003pch.4_Missense_Mutation_p.G119R|MLIP_uc011dwz.1_Missense_Mutation_p.G140R	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	181						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CAAAACACAGGGGACTGATCT	0.552000														48			11		0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31154956	31154956	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:31154956C>T	uc002rns.3	-	10	1691	c.1051G>A	c.(1051-1053)Gga>Aga	p.G351R	GALNT14_uc002rnq.3_Missense_Mutation_p.G326R|GALNT14_uc010ymr.2_Missense_Mutation_p.G311R|GALNT14_uc002rnr.3_Missense_Mutation_p.G346R|GALNT14_uc010ezo.2_Missense_Mutation_p.G313R|GALNT14_uc010ezp.1_3'UTR	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	346						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TTGGCATTTCCATCAGGGAAA	0.617000														29			12		0	0	1	0	0
THRA	7067	broad.mit.edu	37	17	38240093	38240093	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:38240093C>T	uc021twy.1	+	4	784	c.228C>T	c.(226-228)ttC>ttT	p.F76F	THRA_uc010cwp.1_Silent_p.F76F|THRA_uc002htv.3_Silent_p.F76F|THRA_uc002htw.3_Silent_p.F76F|THRA_uc002htx.3_Silent_p.F76F	NM_001190919	NP_003241	P10827	THA_HUMAN	Homo sapiens thyroid hormone receptor, alpha (THRA), transcript variant 4, mRNA.	76					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	TBP-class protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	CCCAGGGCTTCTTTCGCCGCA	0.542000														101			32		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56465889	56465889	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:56465889G>A	uc002qmh.3	+	2	536	c.465G>A	c.(463-465)tcG>tcA	p.S155S	NLRP8_uc010etg.3_Silent_p.S155S	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	155						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GGTATAAATCGAATGTGATGG	0.418000														48			24		0	0	1	0	0
CGB1	114335	broad.mit.edu	37	19	49539516	49539516	+	Silent	SNP	T	G	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:49539516T>G	uc002plx.3	-	1	277	c.54A>C	c.(52-54)gcA>gcC	p.A18A	SNAR-G1_uc010emp.1_5'Flank	NM_033377	NP_203695	A6NKQ9	CGB1_HUMAN	Homo sapiens chorionic gonadotropin, beta polypeptide 1 (CGB1), mRNA.	50						extracellular region	hormone activity			liver(1)|lung(1)	2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GCTCCTTGGATGCCCATGTCC	0.657000														61			28		0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936035	4936035	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:4936035G>A	uc001lzr.1	-	0	859	c.859C>T	c.(859-861)Ctc>Ttc	p.L287F		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGAGGAAAGAGAAGATACATG	0.493000														37			17		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30694598	30694598	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:30694598C>T	uc003xil.3	-	2	8053	c.8053G>A	c.(8053-8055)Gaa>Aaa	p.E2685K		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2685										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GGCTGTACTTCATATGATGTT	0.418000														83			24		0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189692443	189692443	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:189692443G>A	uc011bsk.2	-	8	1744	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	LEPREL1_uc003fsg.3_Silent_p.F271F	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	452					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AGTTGTAGACGAATGTGATGT	0.537000														34			20		0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1584834	1584834	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:1584834G>A	uc022brv.1	-	0	618	c.618C>T	c.(616-618)ttC>ttT	p.F206F	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Silent_p.F206F	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	206						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGTGATCACGAACGGGATGA	0.647000			T	CRLF2	"""B-ALL, Downs associated ALL"""									11			8		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28542837	28542837	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:28542837C>T	uc003nlo.3	-	2	2263	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	549					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TGATCTAATTCATTTTCTGTA	0.393000														54			11		0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93713600	93713600	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:93713600C>T	uc001khr.3	+	5	769	c.671C>T	c.(670-672)tCc>tTc	p.S224F	BTAF1_uc009xua.1_Non-coding_Transcript|BTAF1_uc001khs.1_5'Flank	NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	224					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AAACAGAGATCCAGGGATGCA	0.398000														39			34		0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248617030	248617030	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:248617030C>T	uc001iek.1	+	0	932	c.932C>T	c.(931-933)tCc>tTc	p.S311F		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGATGTGGTTCCTCCCAGAGC	0.542000														37			11		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181750591	181750591	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:181750591G>A	uc009wxt.3	+	38	5491	c.5296G>A	c.(5296-5298)Gaa>Aaa	p.E1766K	CACNA1E_uc001gow.3_Missense_Mutation_p.E1766K|CACNA1E_uc009wxs.3_Missense_Mutation_p.E1747K	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1766	EF-hand.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGAGATGTATGAAATGCTGAC	0.562000														10			6		0	0	1	0	0
PARP15	165631	broad.mit.edu	37	3	122335903	122335903	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:122335903G>A	uc003efm.2	+	5	958	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	PARP15_uc003efn.2_Intron|PARP15_uc003efo.1_Missense_Mutation_p.E45K|PARP15_uc003efp.1_Missense_Mutation_p.E64K|PARP15_uc011bjt.1_Missense_Mutation_p.E64K	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 15 (PARP15), transcript variant 1, mRNA.	276	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		CACAGCATATGAAATGAAAAT	0.418000														67			20		0	0	1	0	0
BNIP1	662	broad.mit.edu	37	5	172590913	172590913	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:172590913C>T	uc003mci.4	+	6	909	c.805C>T	c.(805-807)Cca>Tca	p.P269S	BNIP1_uc003mcj.4_Missense_Mutation_p.P226S|BNIP1_uc003mck.4_Missense_Mutation_p.P235S|BNIP1_uc003mcl.4_Missense_Mutation_p.P192S|BNIP1_uc021yhw.1_Missense_Mutation_p.P139S	NM_013979	NP_053582	Q12981	SEC20_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 1 (BNIP1), transcript variant BNIP1-b, mRNA.	226					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	SNARE complex|integral to endoplasmic reticulum membrane|nuclear envelope	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCGGCTCTTTCCATTTTTGTG	0.502000														58			25		0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46806779	46806779	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:46806779G>A	uc011dwh.1	+	12	2239	c.2231G>A	c.(2230-2232)gGc>gAc	p.G744D	MEP1A_uc010jzh.1_Missense_Mutation_p.G716D|MEP1A_uc011dwg.1_Missense_Mutation_p.G438D|MEP1A_uc011dwi.1_Missense_Mutation_p.G616D	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	716					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CAGGTGCACGGCAGTGTCCTG	0.582000														106			80		0	0	1	0	0
CALML3	810	broad.mit.edu	37	10	5567351	5567351	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:5567351C>T	uc001iie.1	+	0	428	c.303C>T	c.(301-303)gtC>gtT	p.V101V	AK128534_uc001iid.1_5'Flank	NM_005185	NP_005176	P27482	CALL3_HUMAN	Homo sapiens calmodulin-like 3 (CALML3), mRNA.	101	EF-hand 3.						calcium ion binding			endometrium(3)|lung(2)	5						ACGGCTTCGTCAGCGCCGCCG	0.647000														9			16		0	0	1	0	0
C3orf15	89876	broad.mit.edu	37	3	119426349	119426349	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:119426349C>T	uc003ede.4	+	2	377	c.300C>T	c.(298-300)atC>atT	p.I100I	C3orf15_uc010hqx.1_Silent_p.I100I|C3orf15_uc003edc.2_Silent_p.I100I|C3orf15_uc010hqy.2_Silent_p.I100I|C3orf15_uc010hqz.3_Silent_p.I38I|C3orf15_uc011bjd.2_Intron|C3orf15_uc011bje.2_Silent_p.I80I|C3orf15_uc010hra.2_5'UTR	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	100						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		CACCATTTATCAGTCGGGAAT	0.453000														24			14		0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151514098	151514098	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:151514098G>A	uc010ntk.1	-	2	457	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	73					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding	p.R73H(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCCAGAAGACGATCCAAGATT	0.473000														13			22		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189455579	189455580	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:189455579_189455580CC>TA	uc003fry.2	+	1	202_203	c.113_114CC>TA	c.(112-114)tcc>tTA	p.S38L	TP63_uc003frx.2_Missense_Mutation_p.S38L|TP63_uc003frz.2_Missense_Mutation_p.S38L|TP63_uc010hzc.1_Missense_Mutation_p.S38L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	38	Transcription activation.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TATTACCGATCCACCATGTCCC	0.366000										HNSCC(45;0.13)				53			12		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108034134	108034134	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:108034134G>A	uc001tmk.1	+	12	3305	c.2784G>A	c.(2782-2784)ctG>ctA	p.L928L	BTBD11_uc001tmj.3_Silent_p.L928L|BTBD11_uc001tml.1_Silent_p.L465L|BTBD11_uc001tmm.1_Silent_p.L7L	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	928	BTB.					integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TTACATTTCTGGTAGAAGGAA	0.368000														42			16		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31918658	31918658	+	Missense_Mutation	SNP	G	A	A	rs143359144		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:31918658G>A	uc003tcm.2	-	3	837	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	PDE1C_uc003tcn.1_Missense_Mutation_p.R126W|PDE1C_uc003tco.2_Missense_Mutation_p.R186W|PDE1C_uc003tcr.3_Missense_Mutation_p.R126W|PDE1C_uc003tcs.3_Missense_Mutation_p.R126W	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	126					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.R126R(3)|p.R186R(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CTCTTGAACCGGGGCTTCTCG	0.532000														61			45		0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14001203	14001203	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:14001203G>A	uc002mxl.1	-	5	525	c.466C>T	c.(466-468)Cag>Tag	p.Q156*	C19orf57_uc002mxk.1_Nonsense_Mutation_p.Q38*	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA.	156					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GTGGCCTCCTGGAGGGGGACC	0.667000														63			31		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57326244	57326244	+	Missense_Mutation	SNP	T	G	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:57326244T>G	uc002qnu.2	-	6	3917	c.3566A>C	c.(3565-3567)cAg>cCg	p.Q1189P	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.Q1160P|PEG3_uc002qnv.2_Missense_Mutation_p.Q1189P|PEG3_uc002qnw.2_Missense_Mutation_p.Q1065P|PEG3_uc002qnx.2_Missense_Mutation_p.Q1063P|PEG3_uc010etr.2_Missense_Mutation_p.Q1189P	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1189					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGAATACAACTGGTCTTGTTC	0.468000														94			7		0	0	1	0	0
PARP15	165631	broad.mit.edu	37	3	122350982	122350982	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:122350982G>A	uc003efm.2	+	9	1554	c.1488G>A	c.(1486-1488)atG>atA	p.M496I	PARP15_uc003efn.2_Missense_Mutation_p.M301I|PARP15_uc003efo.1_Missense_Mutation_p.M243I|PARP15_uc003efp.1_Missense_Mutation_p.M262I|PARP15_uc011bjt.1_Missense_Mutation_p.M193I	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 15 (PARP15), transcript variant 1, mRNA.	474	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		TGTTTTGCATGGTCCAGCTAG	0.403000														26			13		0	0	1	0	0
GPRIN1	114787	broad.mit.edu	37	5	176023960	176023960	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:176023960G>A	uc003meo.1	-	1	3051	c.2876C>T	c.(2875-2877)cCc>cTc	p.P959L	GPRIN1_uc021yif.1_Missense_Mutation_p.P959L	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA.	959	Interaction with GNAO1 (By similarity).					growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			acgggcggcgggcggcggcgc	0.776000														12			12		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48809494	48809494	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:48809494C>T	uc002rwp.2	+	1	1836	c.1722C>T	c.(1720-1722)gtC>gtT	p.V574V	STON1-GTF2A1L_uc021vhf.1_Silent_p.V574V|STON1-GTF2A1L_uc002rwo.4_Silent_p.V574V|STON1-GTF2A1L_uc010fbm.3_Silent_p.V574V|STON1-GTF2A1L_uc010yol.2_Silent_p.V574V	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	574					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACTTTCCTGTCCCATCGCAGT	0.498000														47			21		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786797	121786797	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:121786797C>T	uc003ksw.1	+	9	2461	c.2255C>T	c.(2254-2256)tCa>tTa	p.S752L	SNCAIP_uc011cwl.1_Missense_Mutation_p.S310L|SNCAIP_uc003ksy.1_Missense_Mutation_p.S386L|SNCAIP_uc003ksx.1_Missense_Mutation_p.S799L|SNCAIP_uc003ksz.1_Missense_Mutation_p.S386L|SNCAIP_uc010jcu.2_Missense_Mutation_p.S348L|SNCAIP_uc011cwm.1_Missense_Mutation_p.S386L|SNCAIP_uc003kta.1_Missense_Mutation_p.S384L|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.S446L|SNCAIP_uc010jcx.1_Missense_Mutation_p.S692L|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.S268L	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	752					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TCTCCCACCTCAGAGAGCAGC	0.557000														19			10		0	0	1	0	0
SHKBP1	92799	broad.mit.edu	37	19	41096727	41096728	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:41096727_41096728CC>TT	uc002oob.3	+	16	1909_1910	c.1860_1861CC>TT	c.(1858-1863)ctcccc>ctTTcc	p.P621S	SHKBP1_uc002ooc.3_Missense_Mutation_p.P596S|SHKBP1_uc002ooe.3_Missense_Mutation_p.P458S|SHKBP1_uc010xvm.2_Missense_Mutation_p.P401S|SHKBP1_uc010xvn.2_Missense_Mutation_p.P499S|LTBP4_uc002oog.1_5'Flank	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.	621						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGGGCTGTCTCCCCAGCCCCTC	0.653000														65			29		0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553789	19553789	+	Missense_Mutation	SNP	G	A	A	rs145666754		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:19553789G>A	uc001vuz.1	+	0	425	c.373G>A	c.(373-375)Gac>Aac	p.D125N	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	125								p.D125E(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGACTACGACGACAGCGCTTT	0.592000														320			38		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179588771	179588771	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:179588771G>A	uc021vsy.1	-	69	17708	c.17483C>T	c.(17482-17484)cCt>cTt	p.P5828L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P2489L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6755	Ig-like 39.						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)			AACTGAAATAGGTGATGATCC	0.433000														20			9		0	0	1	0	0
NTN5	126147	broad.mit.edu	37	19	49166769	49166769	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:49166769C>T	uc002pkb.3	-	5	1152	c.1056G>A	c.(1054-1056)tcG>tcA	p.S352S	SEC1_uc010xzv.2_Intron|SEC1_uc002pka.3_Intron|SEC1_uc010xzw.2_Intron|SEC1_uc010ema.3_Intron|NTN5_uc002pkc.3_3'UTR	NM_145807	NP_665806	Q8WTR8	NET5_HUMAN	Homo sapiens netrin 5 (NTN5), mRNA.	352	NTR.					extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CCCTGGTGTCCGACATATTGC	0.587000														96			32		0	0	1	0	0
FASTKD5	60493	broad.mit.edu	37	20	3129049	3129049	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:3129049G>A	uc021vzx.1	-	0	668	c.668C>T	c.(667-669)tCa>tTa	p.S223L	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Missense_Mutation_p.S223L	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	223					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ATCTAGCATTGAATGGGAGTG	0.448000														32			19		0	0	1	0	0
ZFAND4	93550	broad.mit.edu	37	10	46113685	46113685	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:46113685G>A	uc001jcp.4	-	8	2193	c.1951C>T	c.(1951-1953)Cca>Tca	p.P651S	ZFAND4_uc001jcl.4_Missense_Mutation_p.P171S|ZFAND4_uc001jcm.4_Missense_Mutation_p.P651S|ZFAND4_uc009xmu.3_Missense_Mutation_p.P577S|ZFAND4_uc001jcn.4_Missense_Mutation_p.P577S|ZFAND4_uc001jco.4_Missense_Mutation_p.P198L	NM_001128324	NP_777550	Q86XD8	ANUB1_HUMAN	Homo sapiens zinc finger, AN1-type domain 4 (ZFAND4), transcript variant 2, mRNA.	651							zinc ion binding										TTCACAGGTGGGAGGTGATGA	0.378000														18			13		0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159284312	159284312	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:159284312G>A	uc010piu.2	-	0	138	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TAATGGTCATGATAATCACAT	0.468000														150			44		0	0	1	0	0
FOLR4	390243	broad.mit.edu	37	11	94039854	94039854	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:94039854C>T	uc021qou.1	+	1	314	c.314C>T	c.(313-315)cCc>cTc	p.P105L		NM_001199206	NP_001186135	A6ND01	FOLR4_HUMAN	Homo sapiens folate receptor 4 (delta) homolog (mouse) (FOLR4), mRNA.	105						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						AACCTGGGGCCCTGGATCCAG	0.532000														47			13		0	0	1	0	0
SENP1	29843	broad.mit.edu	37	12	48458935	48458935	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:48458935C>T	uc001rqx.3	-	11	1634	c.1188G>A	c.(1186-1188)aaG>aaA	p.K396K	SENP1_uc001rqw.3_Silent_p.K396K|SENP1_uc001rqy.3_Silent_p.K197K|SENP1_uc001rqz.3_Silent_p.K197K|SENP1_uc009zkx.3_Silent_p.K396K	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 1 (SENP1), mRNA.	396					activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	SUMO-specific protease activity|endopeptidase activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				CAGGAATCTCCTTTTCAAGAG	0.358000														16			6		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762472	92762472	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:92762472G>A	uc003umh.1	-	4	4029	c.2813C>T	c.(2812-2814)tCa>tTa	p.S938L	SAMD9L_uc003umj.1_Missense_Mutation_p.S938L|SAMD9L_uc003umi.1_Missense_Mutation_p.S938L|SAMD9L_uc010lfb.1_Missense_Mutation_p.S938L|SAMD9L_uc003umk.1_Missense_Mutation_p.S938L|SAMD9L_uc010lfc.1_Missense_Mutation_p.S938L|SAMD9L_uc010lfd.1_Missense_Mutation_p.S938L|SAMD9L_uc022ahh.1_Missense_Mutation_p.S938L	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	938										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTGTGAAACTGAAATTGTAGA	0.393000														17			8		0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45368358	45368359	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:45368358_45368359CC>AT	uc002ilj.3	+	8	1184_1185	c.1164_1165CC>AT	c.(1162-1167)ctccct>ctATct	p.P389S	ITGB3_uc002ili.1_Missense_Mutation_p.P389S|ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	389					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	TGCGTGACCTCCCTGAAGAGTT	0.480000														73			43		0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134360378	134360378	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:134360378C>T	uc004can.4	+	23	5664	c.5609C>T	c.(5608-5610)cCg>cTg	p.P1870L	PRRC2B_uc004cao.4_Missense_Mutation_p.P1227L|PRRC2B_uc004cap.4_Missense_Mutation_p.P15L|SNORD62A_uc004caq.3_5'Flank	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	1870							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CCCAGTTTGCCGGAGCAGAGC	0.607000														14			4		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103202031	103202031	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:103202031C>T	uc022ajr.1	-	35	5637	c.5477G>A	c.(5476-5478)gGg>gAg	p.G1826E	RELN_uc022ajq.1_Missense_Mutation_p.G1826E|RELN_uc010liz.3_Missense_Mutation_p.G1826E	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1826					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.G1826W(1)|p.R1825G(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTCAGATTCCCCCTCTCTGC	0.403000														66			18		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78686680	78686680	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:78686680G>A	uc004akc.2	+	6	1298	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	PCSK5_uc004ajy.2_Missense_Mutation_p.E254K|PCSK5_uc004ajz.3_Missense_Mutation_p.E254K|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	254	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGACATGGTTGAAGCAAAATC	0.532000														108			38		0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65180673	65180673	+	Missense_Mutation	SNP	C	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:65180673C>A	uc002lke.1	-	1	2427	c.1203G>T	c.(1201-1203)tgG>tgT	p.W401C	DSEL_uc021ulg.1_Missense_Mutation_p.W401C	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	391						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GGGGATCATACCAGATGTATT	0.478000														37			16		2.32078e-09	2.34639e-09	1	1	0
FAM113B	91523	broad.mit.edu	37	12	47629092	47629092	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:47629092C>T	uc001rpq.3	+	1	771	c.246C>T	c.(244-246)ttC>ttT	p.F82F	FAM113B_uc001rpn.3_Silent_p.F82F|FAM113B_uc021qxi.1_Silent_p.F82F	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	82							hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					TCCGCGAGTTCCGCTCCGACC	0.597000														62			25		0	0	1	0	0
PABPC1P2	728773	broad.mit.edu	37	2	147346307	147346307	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:147346307C>T	uc002twf.4	+	0	1683	c.767C>T	c.(766-768)cCc>cTc	p.P256L						Homo sapiens poly(A) binding protein, cytoplasmic 1 pseudogene 2 (PABPC1P2), non-coding RNA.																		CCAAGTCCTCCCTGGGCTGTT	0.507000														26			10		0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13251192	13251192	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:13251192G>A	uc003wwm.2	-	3	1628	c.1184C>T	c.(1183-1185)tCa>tTa	p.S395L	DLC1_uc003wwn.3_Missense_Mutation_p.S395L|DLC1_uc011kxy.2_Missense_Mutation_p.S395L	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	395					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTCAGATCCTGATTCCAGATC	0.423000														80			19		0	0	1	0	0
MFSD1	64747	broad.mit.edu	37	3	158525197	158525197	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:158525197C>T	uc003fcl.2	+	4	612	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L	MFSD1_uc011bow.2_Silent_p.L139L|MFSD1_uc003fcm.2_Non-coding_Transcript|MFSD1_uc003fcn.2_Silent_p.L32L	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	Homo sapiens major facilitator superfamily domain containing 1 (MFSD1), transcript variant 1, mRNA.	129					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGTTTTTGCCCTGGGTGGAAT	0.274000														57			18		0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99434119	99434119	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:99434119C>T	uc003ury.1	+	1	218	c.115C>T	c.(115-117)Cct>Tct	p.P39S	CYP3A43_uc003urx.1_Missense_Mutation_p.P39S|CYP3A43_uc003urz.1_Missense_Mutation_p.P39S|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Missense_Mutation_p.P39S|CYP3A43_uc003usb.1_Intron	NM_022820	NP_073731	Q9HB55	CP343_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA.	39			YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	GCTGGGAATTCCTGGGCCAAC	0.388000														25			15		0	0	1	0	0
AHRR	57491	broad.mit.edu	37	5	354004	354004	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:354004C>T	uc003jav.3	+	2	277	c.234C>T	c.(232-234)ctC>ctT	p.L78L	AHRR_uc003jaw.3_Silent_p.L78L|AHRR_uc010isy.3_Intron|AHRR_uc010isz.3_Silent_p.L74L	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.	78	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TCAGTTACCTCCGGGTGAAGA	0.597000														44			13		0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59283138	59283138	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:59283138C>T	uc010rkv.2	+	0	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CCCTGCATTTCGTGCCCTGCA	0.562000														150			81		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51191210	51191210	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:51191210G>A	uc002psx.1	-	16	2297	c.2278C>T	c.(2278-2280)Ccg>Tcg	p.P760S	SHANK1_uc002psw.1_Missense_Mutation_p.P144S	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	760					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	p.P760L(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCCATGTCCGGGTGCCTGGTG	0.647000														45			16		0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48230567	48230567	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:48230567G>A	uc003gxz.3	-	1	156	c.65C>T	c.(64-66)tCg>tTg	p.S22L		NM_003215	NP_003206	P42680	TEC_HUMAN	Homo sapiens tec protein tyrosine kinase (TEC), mRNA.	22	PH.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						GTTTAAGGGCGATGTCTTCTT	0.388000														43			18		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61328408	61328408	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:61328408G>A	uc002lji.3	-	1	187	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	SERPINB3_uc002ljg.3_Silent_p.L15L|SERPINB3_uc010dqa.3_Silent_p.L15L|SERPINB3_uc010dqb.3_Silent_p.L15L|SERPINB3_uc010dqc.2_Silent_p.L15L	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	15					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						TGTTGGAACAGGTCGAACATG	0.433000														101			49		0	0	1	0	0
CBLN2	147381	broad.mit.edu	37	18	70205416	70205416	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:70205416G>A	uc002lku.2	-	3	905	c.670C>T	c.(670-672)Cta>Tta	p.L224L	CBLN2_uc002lkv.2_Silent_p.L224L	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	Homo sapiens cerebellin 2 precursor (CBLN2), mRNA.	224	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				TGTGTTTATAGAGGAAACACC	0.502000														42			26		0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	36976468	36976468	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:36976468G>A	uc003jkl.4	+	8	1958	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	NIPBL_uc003jkk.4_Missense_Mutation_p.E487K|NIPBL_uc003jkm.1_Missense_Mutation_p.E366K	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	487					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATCAGCTATTGAAAGGGAGCG	0.348000														45			16		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128393882	128393882	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:128393882G>A	uc002top.3	+	43	6081	c.6028G>A	c.(6028-6030)Gcc>Acc	p.A2010T	MYO7B_uc002tos.2_Missense_Mutation_p.A120T	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	2010	FERM 2.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity	p.P2009P(1)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTTCGGATCCGCCTTCTTCGA	0.617000														42			15		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776234	77776234	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:77776234C>T	uc003yau.2	+	10	10671	c.10284C>T	c.(10282-10284)ttC>ttT	p.F3428F		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	3379						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F3412F(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCTGTTATTTCGGTCAGCCTT	0.438000										HNSCC(33;0.089)				22			6		0	0	1	0	0
STMN4	81551	broad.mit.edu	37	8	27099930	27099930	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:27099930C>T	uc011lak.2	-	2	207	c.93G>A	c.(91-93)tcG>tcA	p.S31S	STMN4_uc003xfj.3_Silent_p.S31S|STMN4_uc011lai.2_Silent_p.S31S|STMN4_uc011laj.2_Silent_p.S22S|STMN4_uc003xfk.3_Silent_p.S31S|STMN4_uc010luo.3_Silent_p.S31S	NM_030795	NP_110422	Q9H169	STMN4_HUMAN	Homo sapiens stathmin-like 4 (STMN4), mRNA.	31					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		ATTTGTAGGACGACTTATTCA	0.587000														67			10		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52571742	52571742	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:52571742G>A	uc010bff.3	-	2	430	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript|MYO5C_uc010ugc.2_Missense_Mutation_p.R53C|MIR1266_uc021smp.1_5'Flank	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	90	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCTGCAAAGCGGATTCTGAGG	0.512000														19			15		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72866929	72866929	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:72866929G>A	uc001sxa.3	+	4	1448	c.1418G>A	c.(1417-1419)gGt>gAt	p.G473D		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	473					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.G473C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GAATTTGTTGGTACAGACTAC	0.423000														101			31		0	0	1	0	0
ATP2A3	489	broad.mit.edu	37	17	3851047	3851047	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:3851047C>T	uc002fwy.2	-	7	906	c.733G>A	c.(733-735)Gag>Aag	p.E245K	ATP2A3_uc002fwz.2_Missense_Mutation_p.E245K|ATP2A3_uc002fxa.2_Missense_Mutation_p.E245K|ATP2A3_uc002fxb.2_Missense_Mutation_p.E245K|ATP2A3_uc002fxc.2_Missense_Mutation_p.E245K|ATP2A3_uc002fxd.2_Missense_Mutation_p.E245K|ATP2A3_uc002fwx.2_Missense_Mutation_p.E245K	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	245					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GGCGTCCGCTCGGGCTCGACT	0.657000														35			13		0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137304633	137304633	+	Silent	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:137304633G>A	uc003vtt.3	-	7	931	c.930C>T	c.(928-930)tcC>tcT	p.S310S	DGKI_uc003vtu.3_Silent_p.S10S	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	310					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GAGCCCCCAGGGAGCAGGGTT	0.483000														77			28		0	0	1	0	0
TSSK1B	83942	broad.mit.edu	37	5	112770220	112770220	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:112770220C>T	uc003kqm.2	-	0	509	c.317G>A	c.(316-318)gGa>gAa	p.G106E	MCC_uc003kql.4_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.	106	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		ATGCAGGGCTCCCCGGGTTTT	0.552000														30			11		0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187004366	187004366	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:187004366C>T	uc003iyq.3	+	3	1627	c.1526C>T	c.(1525-1527)aCc>aTc	p.T509I	TLR3_uc011ckz.2_Missense_Mutation_p.T232I|TLR3_uc003iyr.3_Missense_Mutation_p.T232I	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	509					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CGTAACTTGACCATTCTGGAT	0.438000														67			36		0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182414389	182414389	+	Silent	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:182414389C>T	uc002unx.3	-	6	1046	c.945G>A	c.(943-945)gtG>gtA	p.V315V	CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_Silent_p.V289V|CERKL_uc010zfm.2_Silent_p.V271V|CERKL_uc002unz.3_Silent_p.V37V|CERKL_uc002uoa.3_Silent_p.V220V|CERKL_uc002uob.3_Silent_p.V37V|CERKL_uc002uoc.3_Silent_p.V176V|CERKL_uc021vth.1_Silent_p.V84V|CERKL_uc021vti.1_Silent_p.V37V|CERKL_uc021vtj.1_5'UTR|CERKL_uc021vtk.1_Silent_p.V37V|CERKL_uc021vtl.1_5'UTR|CERKL_uc021vtm.1_Silent_p.V84V|CERKL_uc002uod.2_Silent_p.V84V|CERKL_uc002uoe.3_Silent_p.V289V|CERKL_uc002unw.3_5'Flank	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	315	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTGCAGTTATCACATGAGGAA	0.333000														31			13		0	0	1	0	0
CRIP3	401262	broad.mit.edu	37	6	43275469	43275470	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:43275469_43275470CC>TT	uc010jyn.2	-	3	208_209	c.208_209GG>AA	c.(208-210)ggt>AAt	p.G70N	CRIP3_uc003ouu.1_Missense_Mutation_p.G70N	NM_206922	NP_996805	Q6Q6R5	CRIP3_HUMAN	Homo sapiens cysteine-rich protein 3 (CRIP3), mRNA.	70						cytoplasm	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GCCTACACCACCAATGTTCACC	0.619000														43			33		0	0	1	0	0
PARP15	165631	broad.mit.edu	37	3	122354837	122354837	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:122354837C>T	uc003efm.2	+	11	1993	c.1927C>T	c.(1927-1929)Ccc>Tcc	p.P643S	PARP15_uc003efn.2_Missense_Mutation_p.P448S|PARP15_uc003efo.1_Missense_Mutation_p.P390S|PARP15_uc003efp.1_Missense_Mutation_p.P409S|PARP15_uc011bjt.1_Missense_Mutation_p.P340S	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 15 (PARP15), transcript variant 1, mRNA.	621	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		TCCTCACAATCCCACAGATCT	0.433000														33			13		0	0	1	0	0
CLC	1178	broad.mit.edu	37	19	40225094	40225094	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:40225094C>T	uc002omh.3	-	2	209	c.132G>A	c.(130-132)atG>atA	p.M44I		NM_001828	NP_001819	Q05315	LPPL_HUMAN	Homo sapiens Charcot-Leyden crystal protein (CLC), mRNA.	44	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		ATTCCTCCTTCATCTCAGTGT	0.512000														65			31		0	0	1	0	0
KERA	11081	broad.mit.edu	37	12	91449566	91449566	+	Missense_Mutation	SNP	G	C	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:91449566G>C	uc001tbl.3	-	1	1112	c.493C>G	c.(493-495)Ctg>Gtg	p.L165V		NM_007035	NP_008966	O60938	KERA_HUMAN	Homo sapiens keratocan (KERA), mRNA.	165					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						AGGTTCTCCAGATTGCTAAAG	0.403000														78			33		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153190618	153190618	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:153190618G>A	uc011dcy.2	+	15	2611	c.2584G>A	c.(2584-2586)Gaa>Aaa	p.E862K	GRIA1_uc003lva.4_Missense_Mutation_p.E852K|GRIA1_uc003luy.4_Missense_Mutation_p.E852K|GRIA1_uc003luz.4_Missense_Mutation_p.E757K|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.E772K|GRIA1_uc011dcx.2_Missense_Mutation_p.E783K|GRIA1_uc011dcz.2_Missense_Mutation_p.E862K	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	852					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATCCATCAACGAAGCCATACG	0.587000														50			23		0	0	1	0	0
MAGEF1	64110	broad.mit.edu	37	3	184429168	184429181	+	Frame_Shift_Del	DEL	TGTTGATCAGGATG	-	-	rs140315160		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:184429168_184429181delTGTTGATCAGGATG	uc003fpa.3	-	0	656_669	c.429_442delCATCCTGATCAACA	c.(427-444)tacatcctgatcaacaaafs	p.Y143fs		NM_022149	NP_071432	Q9HAY2	MAGF1_HUMAN	Homo sapiens melanoma antigen family F, 1 (MAGEF1), mRNA.	143	MAGE.									breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			GGTTTTAGTTTGTTGATCAGGATGTAAGTGTGGT	0.500													---	63	---	---	8	---					
KCNQ5	56479	broad.mit.edu	37	6	73331984	73331986	+	In_Frame_Del	DEL	GCG	-	-			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:73331984_73331986delGCG	uc011dyh.2	+	0	414_416	c.67_69delGCG	c.(67-69)gcgdel	p.A27del	KCNQ5_uc003pgj.4_In_Frame_Del_p.A27del|KCNQ5_uc011dyi.2_In_Frame_Del_p.A27del|KCNQ5_uc010kat.3_In_Frame_Del_p.A27del|KCNQ5_uc003pgk.3_In_Frame_Del_p.A27del|KCNQ5_uc011dyj.2_In_Frame_Del_p.A27del|KCNQ5_uc011dyk.2_5'UTR	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	27					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GAgcggcgcagcggcggcggcgg	0.783													---	6	---	---	3	---					
PLEKHG3	26030	broad.mit.edu	37	14	65210301	65210301	+	Frame_Shift_Del	DEL	C	-	-			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:65210301delC	uc001xhp.2	+	16	3942	c.3903delC	c.(3901-3903)ttcfs	p.F1301fs	PLEKHG3_uc001xhn.1_Frame_Shift_Del_p.F1124fs|PLEKHG3_uc001xho.1_Frame_Shift_Del_p.F1180fs|PLEKHG3_uc010aqh.1_Frame_Shift_Del_p.F722fs|PLEKHG3_uc001xhq.1_Frame_Shift_Del_p.F685fs	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	1180					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TTCAGGACTTCCAGCAGTCTG	0.642													---	30	---	---	17	---					
GPR179	440435	broad.mit.edu	37	17	36483957	36483967	+	Frame_Shift_Del	DEL	TCCAATCCCTT	-	-			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:36483957_36483967delTCCAATCCCTT	uc002hpz.3	-	10	5506_5516	c.5485_5495delAAGGGATTGGA	c.(5485-5496)aagggattggacfs	p.K1829fs		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1829						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGCCTTTTGGTCCAATCCCTTCCCAGTAGTT	0.521													---	89	---	---	63	---