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
CPT1A	1374	broad.mit.edu	37	11	68540830	68540830	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:68540830G>A	uc001oog.4	-	13	1813	c.1643C>T	c.(1642-1644)tCc>tTc	p.S548F	CPT1A_uc001oof.4_Missense_Mutation_p.S548F	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	548					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GAATGGGAAGGAATGGAAATC	0.488000														28			43		0	0	0.008740	0	0
KCNB2	9312	broad.mit.edu	37	8	73849501	73849501	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr8:73849501C>T	uc003xzb.3	+	2	2499	c.1911C>T	c.(1909-1911)ctC>ctT	p.L637L		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	637					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CAACCGACCTCCCAGGGACAG	0.602000														59			37		0	0	0.007835	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52002831	52002831	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:52002831G>A	uc002pwx.1	-	2	1004	c.948C>T	c.(946-948)tcC>tcT	p.S316S	SIGLEC12_uc002pww.1_Silent_p.S198S|SIGLEC12_uc010eoy.1_Silent_p.S43S	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	316	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGGGGTCCAGGGAGGACACGG	0.667000														23			21		0	0	0.012319	0	0
DPYD	1806	broad.mit.edu	37	1	98205983	98205983	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:98205983C>T	uc001drv.3	-	3	423	c.286G>A	c.(286-288)Gat>Aat	p.D96N	DPYD_uc010oub.1_Non-coding_Transcript|DPYD_uc001drw.3_Missense_Mutation_p.D96N	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	96	4Fe-4S ferredoxin-type 1.				'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GATTTAATATCAAGATTAGTT	0.323000														53			26		0	0	0.013726	0	0
SCN10A	6336	broad.mit.edu	37	3	38768112	38768112	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:38768112C>T	uc003ciq.3	-	15	3072	c.3072G>A	c.(3070-3072)gtG>gtA	p.V1024V		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1024					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTTTGGGGATCACTTCCTGCT	0.542000														35			41		0	0	0.014410	0	0
MAST3	23031	broad.mit.edu	37	19	18260381	18260381	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:18260381C>G	uc002nhz.4	+	26	3775	c.3775C>G	c.(3775-3777)Cgc>Ggc	p.R1259G		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	1259							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CCTGTCCGAGCGCCGAGACTC	0.692000														6			5		0	0	0.000602	0	0
HTR5A	3361	broad.mit.edu	37	7	154863337	154863337	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:154863337C>T	uc003wlu.1	+	0	792	c.728C>T	c.(727-729)tCc>tTc	p.S243F	LOC100128264_uc003wlt.2_5'Flank|LOC100128264_uc011kvt.1_5'Flank	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	243						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TCACCCATATCCGAAGCTGTG	0.542000														23			29		0	0	0.009535	0	0
CDHR1	92211	broad.mit.edu	37	10	85972935	85972935	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:85972935C>T	uc001kcv.3	+	15	1976	c.1871C>T	c.(1870-1872)tCc>tTc	p.S624F	CDHR1_uc001kcw.3_Missense_Mutation_p.S624F|CDHR1_uc009xst.3_Missense_Mutation_p.S328F|CDHR1_uc001kcx.3_5'UTR	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	624	Cadherin 6.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GACATCAATTCCCACACGGGG	0.577000														43			41		0	0	0.006230	0	0
ZNF700	90592	broad.mit.edu	37	19	12060344	12060344	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:12060344C>T	uc010xme.2	+	4	1750	c.1559C>T	c.(1558-1560)cCc>cTc	p.P520L	ZNF700_uc002msu.3_Missense_Mutation_p.P502L|ZNF700_uc010xmf.2_Intron			Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 700 (ZNF700), mRNA.	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P502H(1)	ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						ATAAGAATGCCCTCTGGAGAA	0.383000														22			25		0	0	0.006320	0	0
C7orf58	79974	broad.mit.edu	37	7	120768517	120768517	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:120768517G>A	uc003vjq.4	+	10	1831	c.1384G>A	c.(1384-1386)Gga>Aga	p.G462R	C7orf58_uc003vjr.1_Missense_Mutation_p.G462R|C7orf58_uc003vjs.4_Missense_Mutation_p.G462R|C7orf58_uc003vjt.4_Missense_Mutation_p.G242R|C7orf58_uc010lkk.2_Missense_Mutation_p.G242R	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	462						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					AAAGGAACTTGGAAGTCTGGG	0.373000														21			17		0	0	0.007413	0	0
COX4I2	84701	broad.mit.edu	37	20	30231300	30231300	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr20:30231300G>A	uc002wwj.1	+	3	416	c.341G>A	c.(340-342)gGa>gAa	p.G114E		NM_032609	NP_115998	Q96KJ9	COX42_HUMAN	Homo sapiens cytochrome c oxidase subunit IV isoform 2 (lung) (COX4I2), nuclear gene encoding mitochondrial protein, mRNA.	114					cellular respiration		cytochrome-c oxidase activity			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			TTCTTCATTGGATTCGCAGCT	0.562000														33			33		0	0	0.012213	0	0
ANKRD20A5P	440482	broad.mit.edu	37	18	14188003	14188003	+	Splice_Site	SNP	G	A	A	rs117657747	by1000genomes	TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr18:14188003G>A	uc002ksw.2	+	4		c.791_splice	c.e4-1		ANKRD20A5P_uc002ksv.2_3'UTR					Homo sapiens ankyrin repeat domain 20 family, member A5, pseudogene (ANKRD20A5P), non-coding RNA.											lung(3)	3						CTGTTTTATAGGACAGTAATA	0.308000														30			28		0	0	0.007291	0	0
ATP12A	479	broad.mit.edu	37	13	25265129	25265129	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr13:25265129C>T	uc010aaa.3	+	7	1160	c.827C>T	c.(826-828)aCc>aTc	p.T276I	ATP12A_uc001upp.3_Missense_Mutation_p.T270I	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	270					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GGCACTGTCACCGGCATGGTT	0.562000														109			31		0	0	0.004289	0	0
ADCK2	90956	broad.mit.edu	37	7	140380881	140380881	+	Missense_Mutation	SNP	C	T	T	rs138501789		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:140380881C>T	uc003vvy.1	+	3	1427	c.1249C>T	c.(1249-1251)Ccc>Tcc	p.P417S	ADCK2_uc003vvz.3_Missense_Mutation_p.P417S	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA.	417	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GGCAGGAATTCCCGTGGACTT	0.567000														38			31		0	0	0.003271	0	0
CLCN1	1180	broad.mit.edu	37	7	143048706	143048706	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:143048706G>A	uc003wcr.1	+	22	2702	c.2615G>A	c.(2614-2616)gGg>gAg	p.G872E	CLCN1_uc011ktc.1_Missense_Mutation_p.G484E	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	872	CBS 2.				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GCCATTGAGGGGCACACCAAG	0.532000														34			16		0	0	0.004007	0	0
OR51A2	401667	broad.mit.edu	37	11	4976302	4976302	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:4976302G>A	uc010qyt.2	-	0	642	c.642C>T	c.(640-642)ctC>ctT	p.L214L		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I213I(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACACAGCAATGAGAATAAAGT	0.438000														0			21		0	0	0.014323	0	0
RXFP1	59350	broad.mit.edu	37	4	159569787	159569787	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:159569787C>T	uc003ipz.3	+	16	2156	c.1893C>T	c.(1891-1893)ttC>ttT	p.F631F	RXFP1_uc010iqk.3_Silent_p.F499F|RXFP1_uc011cja.2_Silent_p.F526F|RXFP1_uc010iqo.3_Silent_p.F583F|RXFP1_uc011cjb.2_Silent_p.F529F|RXFP1_uc011cjc.2_Silent_p.F550F|RXFP1_uc011cjd.2_Silent_p.F550F|RXFP1_uc010iql.3_Silent_p.F475F|RXFP1_uc011cje.2_Silent_p.F658F|RXFP1_uc010iqm.3_Silent_p.F598F|RXFP1_uc011cjf.2_Silent_p.F500F|RXFP1_uc010iqn.3_Silent_p.F576F	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	631						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AACGTTTTTTCTTTATAGTAT	0.328000														31			21		0	0	0.003954	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	RNA	SNP	A	G	G	rs111976783		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:96593000A>G	uc010yug.1	-	26		c.1913T>C			ANKRD36C_uc002sva.1_Non-coding_Transcript|ANKRD36C_uc002svc.1_Non-coding_Transcript					Homo sapiens cDNA FLJ54441 complete cds, highly similar to Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000														6			3		0	0	0.004672	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71189977	71189977	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:71189977C>T	uc002shj.3	+	8	943	c.856C>T	c.(856-858)Cat>Tat	p.H286Y	ATP6V1B1_uc010fdx.3_Missense_Mutation_p.H244Y	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	286					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GTGTGAGAAGCATGTGCTGGT	0.577000														41			61		0	0	0.014410	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274206	39274206	+	Missense_Mutation	SNP	C	T	T	rs79388709		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:39274206C>T	uc002hvz.3	-	0	401	c.362G>A	c.(361-363)aGa>aAa	p.R121K		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.R121K(10)|p.R121R(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcactggggtctgcagcagct	0.652000														37			4		0	0	0.000602	0	0
PRDM2	7799	broad.mit.edu	37	1	14107071	14107071	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:14107071C>T	uc001avi.3	+	7	3637	c.2781C>T	c.(2779-2781)ctC>ctT	p.L927L	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Silent_p.L927L|PRDM2_uc021ogk.1_Silent_p.L690L|PRDM2_uc001avk.3_Silent_p.L726L|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	927						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ATCCTGACCTCGGTCCGGGCT	0.532000														74			63		0	0	0.014410	0	0
OXTR	5021	broad.mit.edu	37	3	8794857	8794857	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:8794857G>A	uc003brc.3	-	3	1598	c.976C>T	c.(976-978)Ccc>Tcc	p.P326S		NM_000916	NP_000907	P30559	OXYR_HUMAN	Homo sapiens oxytocin receptor (OXTR), mRNA.	326					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	TAGATCCAGGGGTTGCAGCAG	0.592000														15			22		0	0	0.010504	0	0
PYHIN1	149628	broad.mit.edu	37	1	158906944	158906944	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:158906944C>T	uc001ftb.3	+	1	494	c.244C>T	c.(244-246)Ctt>Ttt	p.L82F	PYHIN1_uc001fta.4_Missense_Mutation_p.L82F|PYHIN1_uc001ftc.3_Missense_Mutation_p.L82F|PYHIN1_uc001ftd.3_Missense_Mutation_p.L82F|PYHIN1_uc001fte.3_Missense_Mutation_p.L82F	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	82	DAPIN.				cell cycle	nuclear speck		p.T81T(1)		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)					TGCTGAAACTCTTAAAAGAGA	0.458000														28			19		0	0	0.006122	0	0
GPR110	266977	broad.mit.edu	37	6	46977054	46977054	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:46977054C>T	uc003oyt.3	-	10	2316	c.2117G>A	c.(2116-2118)gGt>gAt	p.G706D	GPR110_uc011dwl.2_Missense_Mutation_p.G394D	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	706					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GCACCCATAACCCAGGCAAAA	0.473000														40			22		0	0	0.014323	0	0
SPOCD1	90853	broad.mit.edu	37	1	32280615	32280615	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:32280615A>C	uc001bts.1	-	1	378	c.320T>G	c.(319-321)gTg>gGg	p.V107G	SPOCD1_uc001btu.3_Missense_Mutation_p.V107G|SPOCD1_uc001btv.3_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	107					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTGAGTAGGCACCGAGGGCAG	0.602000														47			68		0	0	0.014410	0	0
FCRL4	83417	broad.mit.edu	37	1	157557755	157557755	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:157557755G>A	uc001fqw.3	-	3	598	c.462C>T	c.(460-462)atC>atT	p.I154I	FCRL4_uc010phy.2_Intron	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	154	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TTGCTTGTGGGATAAGAAGAT	0.328000														21			13		0	0	0.002450	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	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)				100			62		2.53126e-37	5.18613e-37	0.014410	1	0
COX10	1352	broad.mit.edu	37	17	14110213	14110213	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:14110213C>T	uc002gof.4	+	6	1219	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W	COX10_uc010vvs.2_Missense_Mutation_p.R122W|COX10_uc010vvt.2_Missense_Mutation_p.R147W	NM_001303	NP_001294	Q12887	COX10_HUMAN	Homo sapiens COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) (COX10), nuclear gene encoding mitochondrial protein, mRNA.	339					heme O biosynthetic process|heme a biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		AGACTACTCCCGGGGCGGCTA	0.672000														39			44		0	0	0.014410	0	0
ZC3H4	23211	broad.mit.edu	37	19	47575047	47575047	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:47575047G>A	uc002pga.4	-	12	2172	c.2134C>T	c.(2134-2136)Ctg>Ttg	p.L712L	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	712							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCATCCCCCAGGAGTCCGGGC	0.577000														29			17		0	0	0.004007	0	0
GPR56	9289	broad.mit.edu	37	16	57695737	57695737	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr16:57695737A>T	uc002emb.2	+	13	2103	c.1811A>T	c.(1810-1812)cAa>cTa	p.Q604L	GPR56_uc002ema.1_Missense_Mutation_p.Q429L|GPR56_uc002emc.2_Missense_Mutation_p.Q598L|GPR56_uc002emf.2_Missense_Mutation_p.Q598L|GPR56_uc010vhs.1_Missense_Mutation_p.Q604L|GPR56_uc002emd.2_Missense_Mutation_p.Q598L|GPR56_uc002eme.2_Missense_Mutation_p.Q598L|GPR56_uc010vht.1_Missense_Mutation_p.Q603L|GPR56_uc002emg.3_Missense_Mutation_p.Q598L|GPR56_uc010vhu.1_Missense_Mutation_p.Q423L	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	Homo sapiens G protein-coupled receptor 56 (GPR56), transcript variant 1, mRNA.	604					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CCCCACACCCAAAAGTGGTCA	0.582000														4			42		0	0	0.014410	0	0
BPTF	2186	broad.mit.edu	37	17	65914951	65914951	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:65914951A>T	uc002jgf.3	+	11	5486	c.5425A>T	c.(5425-5427)Aca>Tca	p.T1809S	BPTF_uc002jge.3_Missense_Mutation_p.T1935S	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	1935					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GACTACACGGACAGGTAAGGG	0.512000														47			122		0	0	0.014410	0	0
LCN2	3934	broad.mit.edu	37	9	130914544	130914544	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr9:130914544C>T	uc004bto.1	+	4	631	c.558C>T	c.(556-558)atC>atT	p.I186I	LCN2_uc011map.1_Silent_p.I186I	NM_005564	NP_005555	P80188	NGAL_HUMAN	Homo sapiens lipocalin 2 (LCN2), mRNA.	186					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity			central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						AAAACCACATCGTCTTCCCTG	0.557000														6			23		0	0	0.003330	0	0
NNMT	4837	broad.mit.edu	37	11	114182986	114182986	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:114182986G>A	uc001por.1	+	4	846	c.582G>A	c.(580-582)gtG>gtA	p.V194V	NNMT_uc001pos.1_Silent_p.V194V	NM_006169	NP_006160	P40261	NNMT_HUMAN	Homo sapiens nicotinamide N-methyltransferase (NNMT), mRNA.	194					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	GCTTCCTGGTGATCATGGATG	0.612000														5			32		0	0	0.009535	0	0
C16orf78	123970	broad.mit.edu	37	16	49430453	49430453	+	Missense_Mutation	SNP	A	G	G	rs142390164	by1000genomes	TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr16:49430453A>G	uc002efr.3	+	3	557	c.514A>G	c.(514-516)Acc>Gcc	p.T172A		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA.	172										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						CCAGAGGGCAACCTTCATAAG	0.498000														47			23		0	0	0.003330	0	0
CPE	1363	broad.mit.edu	37	4	166385646	166385646	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:166385646G>A	uc003irg.4	+	1	689	c.412G>A	c.(412-414)Ggg>Agg	p.G138R		NM_001873	NP_001864	P16870	CBPE_HUMAN	Homo sapiens carboxypeptidase E (CPE), mRNA.	138					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATACCAGAAGGGGAACGAGAC	0.488000											OREG0016390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		10			8		0	0	0.003080	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47251987	47251987	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:47251987C>T	uc003oyv.3	-	2	1363	c.930G>A	c.(928-930)ctG>ctA	p.L310L		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	310					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GCAGCAGCTTCAGGATGTGTC	0.577000														250			91		0	0	0.014410	0	0
NCAPD2	9918	broad.mit.edu	37	12	6618900	6618900	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:6618900C>T	uc001qoo.2	+	2	191	c.145C>T	c.(145-147)Cga>Tga	p.R49*	NCAPD2_uc009zen.1_Nonsense_Mutation_p.R49*|NCAPD2_uc010sfd.1_Silent_p.F23F|SCARNA10_uc009zeo.1_5'Flank	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	49	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GGCTGCCTTTCGAGCTCAGGG	0.413000														102			86		0	0	0.014410	0	0
RIN2	54453	broad.mit.edu	37	20	19956051	19956051	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr20:19956051T>C	uc002wro.2	+	7	1678	c.1529T>C	c.(1528-1530)cTg>cCg	p.L510P	RIN2_uc010gcu.2_Intron|RIN2_uc010gcv.2_Missense_Mutation_p.L255P	NM_001242581	NP_001229510	Q8WYP3	RIN2_HUMAN	Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA.	461					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						AACAGCAGCCTGGAGGACTAC	0.582000														49			3		0	0	0.000602	0	0
MYO3A	53904	broad.mit.edu	37	10	26500832	26500832	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:26500832C>T	uc001isn.2	+	34	5151	c.4791C>T	c.(4789-4791)taC>taT	p.Y1597Y	MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Nonsense_Mutation_p.R613*	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1597					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						CCAACCCCTACGACTTCAGGA	0.652000														2			32		0	0	0.010818	0	0
DNAJB3	414061	broad.mit.edu	37	2	234652314	234652314	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:234652314G>A	uc002vuz.3	-	0	348	c.249C>T	c.(247-249)ttC>ttT	p.F83F	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 3 (DNAJB3), mRNA.	83					protein folding		heat shock protein binding|unfolded protein binding										AGGGGTCCTCGAAGGGCCTGC	0.637000														70			67		0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179636046	179636046	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:179636046C>T	uc021vsy.1	-	33	8233	c.8008G>A	c.(8008-8010)Gat>Aat	p.D2670N	TTN_uc021vsz.1_Missense_Mutation_p.D2624N|TTN_uc021vta.1_Missense_Mutation_p.D2624N|TTN_uc021vtb.1_Missense_Mutation_p.D2624N|TTN_uc002unb.2_Missense_Mutation_p.D2670N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2670	Ig-like 15.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTGGCCATCAGACTCACTT	0.448000														28			17		0	0	0.007413	0	0
SORCS3	22986	broad.mit.edu	37	10	106675616	106675616	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:106675616G>A	uc001kyi.1	+	2	948	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	241						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CACCACCTATGAAAAGCTGAA	0.453000														28			19		0	0	0.010504	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21008070	21008070	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:21008070C>T	uc010sil.2	+	1	258	c.193C>T	c.(193-195)Ctt>Ttt	p.L65F	SLCO1B3_uc001rek.3_Missense_Mutation_p.L65F|SLCO1B3_uc001rel.3_Missense_Mutation_p.L65F|SLCO1B3_uc010sim.2_Missense_Mutation_p.L65F			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	65					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					ATCCTCTTCTCTTGCTGGTTT	0.338000														20			8		0	0	0.003080	0	0
GPR82	27197	broad.mit.edu	37	X	41586351	41586351	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:41586351C>T	uc022bvd.1	+	0	72	c.72C>T	c.(70-72)ctC>ctT	p.L24L	CASK_uc004dfl.4_Intron|CASK_uc004dfm.4_Intron|CASK_uc004dfn.4_Intron|GPR82_uc004dfu.1_Non-coding_Transcript|GPR82_uc004dft.3_Silent_p.L24L	NM_080817	NP_543007	Q96P67	GPR82_HUMAN	Homo sapiens G protein-coupled receptor 82 (GPR82), mRNA.	24						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	10						TTTACATCCTCCTTTGTATTG	0.338000														1			17		0	0	0.004990	0	0
SMAD1	4086	broad.mit.edu	37	4	146435880	146435880	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:146435880A>G	uc003ikc.3	+	1	531	c.115A>G	c.(115-117)Aaa>Gaa	p.K39E	SMAD1_uc003ikd.3_Missense_Mutation_p.K39E|SMAD1_uc010iov.3_Missense_Mutation_p.K39E|SMAD1_uc011cic.2_Missense_Mutation_p.K39E	NM_005900	NP_005891	Q15797	SMAD1_HUMAN	Homo sapiens SMAD family member 1 (SMAD1), transcript variant 1, mRNA.	39	MH1.|Poly-Lys.				BMP signaling pathway|SMAD protein complex assembly|embryonic pattern specification|primary miRNA processing|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	I-SMAD binding|co-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					TGCTTTGGTGAAAAAACTGAA	0.468000														37			20		0	0	0.010504	0	0
COL12A1	1303	broad.mit.edu	37	6	75848260	75848260	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:75848260C>T	uc021zbv.1	-	27	5169	c.5134G>A	c.(5134-5136)Gaa>Aaa	p.E1712K	COL12A1_uc021zbw.1_Missense_Mutation_p.E548K|COL12A1_uc003phs.3_Missense_Mutation_p.E1712K|COL12A1_uc003pht.3_Missense_Mutation_p.E548K	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1712	Fibronectin type-III 12.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTCAGGTTTTCGAACACCAAA	0.428000														31			12		0	0	0.001855	0	0
LYPLA2	11313	broad.mit.edu	37	1	24119680	24119680	+	Silent	SNP	T	C	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:24119680T>C	uc001bht.3	+	3	271	c.150T>C	c.(148-150)ccT>ccC	p.P50P		NM_007260	NP_009191	O95372	LYPA2_HUMAN	Homo sapiens lysophospholipase II (LYPLA2), mRNA.	50					fatty acid metabolic process	cytoplasm	hydrolase activity			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TCCGGCTCCCTCACGTCAAGT	0.627000														23			44		0	0	0.014410	0	0
KCND2	3751	broad.mit.edu	37	7	120385909	120385909	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:120385909C>T	uc003vjj.1	+	4	2508	c.1543C>T	c.(1543-1545)Cac>Tac	p.H515Y		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	515					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TCCTTCAAGTCACAGTCCTTC	0.433000														12			9		0	0	0.006214	0	0
LRP1B	53353	broad.mit.edu	37	2	141458189	141458189	+	Splice_Site	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:141458189C>T	uc002tvj.1	-	41	7400	c.6428_splice	c.e41-1	p.G2143_splice		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2143	EGF-like 5.				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)		AAACATTGGTCCCTAATGAAG	0.368000										TSP Lung(27;0.18)				14			6		0	0	0.001984	0	0
ASB5	140458	broad.mit.edu	37	4	177142381	177142381	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:177142381G>A	uc003iuq.2	-	4	709	c.595C>T	c.(595-597)Cct>Tct	p.P199S	ASB5_uc003iup.2_Missense_Mutation_p.P146S	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	199					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		CCCAAATGAGGAATTTCTTGG	0.413000														35			38		0	0	0.005524	0	0
WDR81	124997	broad.mit.edu	37	17	1631701	1631701	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:1631701G>C	uc002ftj.2	+	0	3577	c.3448G>C	c.(3448-3450)Gag>Cag	p.E1150Q	WDR81_uc002fth.2_Missense_Mutation_p.E99Q|WDR81_uc010vqp.1_Intron|WDR81_uc002fti.2_Intron|WDR81_uc010vqq.1_5'Flank	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	0										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GAAGCAAAGCGAGGGCTCCga	0.652000														23			25		0	0	0.004656	0	0
HIPK2	28996	broad.mit.edu	37	7	139257875	139257876	+	Missense_Mutation	DNP	TG	CA	CA			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:139257875_139257876TG>CA	uc003vvf.4	-	14	3665_3666	c.3394_3395CA>TG	c.(3394-3396)cag>TGg	p.Q1132W	HIPK2_uc003vvd.4_Missense_Mutation_p.Q1105W	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	1132	Autoinhibitory domain (AID).				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction	PML body|centrosome|nuclear membrane	ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding	p.V1131M(1)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGCAGTGTGCTGCACGGTGTGG	0.713000														6			20		0	0	0.004672	0	0
OR4K2	390431	broad.mit.edu	37	14	20344609	20344609	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr14:20344609C>T	uc001vwh.1	+	0	183	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F61C(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTATGTATTTCCTGCTTACCA	0.403000														168			59		0	0	0.014410	0	0
FLG	2312	broad.mit.edu	37	1	152287016	152287016	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:152287016C>T	uc001ezu.1	-	2	382	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	116					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			TTGTTTTCTTCCTGTTTATTA	0.378000									Ichthyosis					65			50		0	0	0.014410	0	0
CDC14C	168448	broad.mit.edu	37	7	48964846	48964846	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:48964846G>A	uc010kyv.1	+	0	690	c.578G>A	c.(577-579)cGa>cAa	p.R193Q						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		ATACCAGACCGATTTATTGCC	0.353000														30			28		0	0	0.013726	0	0
CYP19A1	1588	broad.mit.edu	37	15	51529075	51529075	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr15:51529075C>T	uc001zyz.4	-	3	528	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	CYP19A1_uc001zza.4_Missense_Mutation_p.E93K|CYP19A1_uc001zzb.2_Missense_Mutation_p.E93K|CYP19A1_uc001zzd.3_Missense_Mutation_p.E93K|CYP19A1_uc010bey.1_Missense_Mutation_p.E93K	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	93					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	ATGAGTGTTTCCTCTCCAGAG	0.438000														46			38		0	0	0.009718	0	0
POSTN	10631	broad.mit.edu	37	13	38156623	38156623	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr13:38156623G>A	uc001uwo.4	-	9	1390	c.1272C>T	c.(1270-1272)ctC>ctT	p.L424L	POSTN_uc010tet.2_5'Flank|POSTN_uc001uwp.4_Silent_p.L424L|POSTN_uc001uwr.3_Silent_p.L424L|POSTN_uc001uwq.3_Silent_p.L424L|POSTN_uc010teu.1_Silent_p.L424L|POSTN_uc010tev.1_Silent_p.L424L|POSTN_uc010tew.1_Silent_p.L424L|POSTN_uc010tex.1_Silent_p.L339L	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	424	FAS1 3.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTAATTTAAGGAGGCGCTGAT	0.363000														22			25		0	0	0.004656	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354398	45354398	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr20:45354398C>T	uc002xsl.3	+	1	820	c.723C>T	c.(721-723)ttC>ttT	p.F241F		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	241						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TGGTGCTCTTCCAGCAACTAA	0.632000														85			52		0	0	0.014410	0	0
KPRP	448834	broad.mit.edu	37	1	152732689	152732689	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:152732689C>T	uc001fal.1	+	1	683	c.625C>T	c.(625-627)Cag>Tag	p.Q209*	KPRP_uc021ozf.1_Nonsense_Mutation_p.Q209*	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	209	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)			CCCCCAGTTCCAGTTGAGGCC	0.567000														83			87		0	0	0.014410	0	0
UMODL1	89766	broad.mit.edu	37	21	43543053	43543053	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr21:43543053C>T	uc002zag.1	+	15	3324	c.3324C>T	c.(3322-3324)ccC>ccT	p.P1108P	UMODL1_uc002zad.1_Silent_p.P908P|UMODL1_uc002zae.1_Silent_p.P1036P|UMODL1_uc002zaf.1_Silent_p.P980P|UMODL1_uc002zal.1_5'UTR	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	980	ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AAGGCCTGCCCCAGCGGCTGA	0.637000														1			31		0	0	0.010818	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110456923	110456923	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr8:110456923G>A	uc003yne.3	+	37	4929	c.4825G>A	c.(4825-4827)Gaa>Aaa	p.E1609K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1609	IPT/TIG 8.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.V1608V(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)			TGTCGTAGAAGAAAGTAGTGA	0.363000										HNSCC(38;0.096)				65			71		0	0	0.014410	0	0
RAB9B	51209	broad.mit.edu	37	X	103080312	103080312	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:103080312T>G	uc004ell.2	-	2	742	c.403A>C	c.(403-405)Act>Cct	p.T135P	RAB9B_uc004eli.2_Intron|RAB9B_uc022cbx.1_Missense_Mutation_p.T135P	NM_016370	NP_057454	Q9NP90	RAB9B_HUMAN	Homo sapiens RAB9B, member RAS oncogene family (RAB9B), mRNA.	135					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						GCCTCCTCAGTAGTCACTTGC	0.438000														153			75		0	0	0.014410	0	0
BC043541	0	broad.mit.edu	37	1	43352964	43352964	+	RNA	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:43352964C>T	uc001cij.1	+	3		c.866C>T								Homo sapiens cDNA clone IMAGE:5170739.																		CACATCAATTCCCCGAAAAGC	0.582000														21			21		0	0	0.008871	0	0
CYP4B1	1580	broad.mit.edu	37	1	47276491	47276491	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:47276491G>A	uc001cqn.4	+	1	276	c.192G>A	c.(190-192)acG>acA	p.T64T	CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqm.4_Silent_p.T64T|CYP4B1_uc009vym.3_Silent_p.T64T|CYP4B1_uc010omk.2_Intron|CYP4B1_uc010oml.1_5'Flank	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	64					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TCCAGGAGACGGGGAGCCTGG	0.577000														44			32		0	0	0.003755	0	0
PCLO	27445	broad.mit.edu	37	7	82453631	82453631	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:82453631G>A	uc003uhx.2	-	18	14806	c.14517C>T	c.(14515-14517)tcC>tcT	p.S4839S	PCLO_uc003uhv.2_Silent_p.S4839S|PCLO_uc003uht.1_Silent_p.S281S|PCLO_uc003uhu.1_Silent_p.S260S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4701					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S4839S(3)		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						TGCTCTGACTGGAATGAGACT	0.423000														17			14		0	0	0.003163	0	0
RGPD4	285190	broad.mit.edu	37	2	108496562	108496562	+	Splice_Site	SNP	A	G	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:108496562A>G	uc010ywk.2	+	21	5146	c.5064_splice	c.e21+1	p.K1688_splice	RGPD4_uc002tdu.3_Splice_Site_p.K875_splice|RGPD4_uc010ywl.2_Splice_Site	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1688					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GAGCAAATTAAGGTGAGATCA	0.453000														79			106		0	0	0.014410	0	0
FAM170A	340069	broad.mit.edu	37	5	118970422	118970422	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr5:118970422G>A	uc003ksm.2	+	2	1189	c.979G>A	c.(979-981)Gac>Aac	p.D327N	FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.3_Missense_Mutation_p.D327N|FAM170A_uc003kso.3_Missense_Mutation_p.D280N	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	327						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						TTCTCCAAAGGACAGGAAGTG	0.562000														4			46		0	0	0.013114	0	0
CLVS2	134829	broad.mit.edu	37	6	123319255	123319255	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:123319255G>A	uc003pzi.1	+	1	1202	c.333G>A	c.(331-333)ctG>ctA	p.L111L		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	111	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TGGCCAATCTGGACCACTATG	0.502000														2			52		0	0	0.014410	0	0
CCKBR	887	broad.mit.edu	37	11	6292484	6292484	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:6292484C>T	uc001mcp.3	+	4	1310	c.1055C>T	c.(1054-1056)gCc>gTc	p.A352V	CCKBR_uc001mcq.3_Missense_Mutation_p.A280V|CCKBR_uc001mcr.3_Missense_Mutation_p.A352V|CCKBR_uc001mcs.3_Missense_Mutation_p.A421V|CCKBR_uc001mct.1_Non-coding_Transcript	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	352					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GTTTATAGTGCCAACACGTGG	0.577000														43			36		0	0	0.005524	0	0
TMEM38A	79041	broad.mit.edu	37	19	16799109	16799109	+	Missense_Mutation	SNP	C	T	T	rs147713228		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:16799109C>T	uc002nes.3	+	5	918	c.827C>T	c.(826-828)tCg>tTg	p.S276L		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	Homo sapiens transmembrane protein 38A (TMEM38A), mRNA.	276						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	p.S276S(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						GCTCAGCATTCGGCCATGCCC	0.642000														35			49		0	0	0.014410	0	0
GPR112	139378	broad.mit.edu	37	X	135428453	135428453	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:135428453C>T	uc004ezu.1	+	5	2879	c.2588C>T	c.(2587-2589)cCa>cTa	p.P863L	GPR112_uc010nsb.1_Missense_Mutation_p.P658L|GPR112_uc010nsc.1_Missense_Mutation_p.P630L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	863					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GAGGTTTCTCCATTTTCAACA	0.408000														20			19		0	0	0.012319	0	0
SALL4	57167	broad.mit.edu	37	20	50418919	50418919	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr20:50418919T>A	uc002xwh.4	-	0	130	c.29A>T	c.(28-30)cAg>cTg	p.Q10L	SALL4_uc010gii.3_Missense_Mutation_p.Q10L|SALL4_uc002xwi.4_Missense_Mutation_p.Q10L	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	10					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTGATGTGCTGGGGTTTCGC	0.677000														52			42		0	0	0.014410	0	0
RAI1	10743	broad.mit.edu	37	17	17697373	17697373	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:17697373C>T	uc002grm.3	+	2	1580	c.1111C>T	c.(1111-1113)Ccc>Tcc	p.P371S	RAI1_uc002grn.1_Missense_Mutation_p.P371S	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	371						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GGAGAACTTTCCCTACAGCCA	0.652000														78			59		0	0	0.014410	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045702	142045702	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:142045702A>G	uc003vxp.4	+	1	339	c.230A>G	c.(229-231)aAc>aGc	p.N77S	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV4-2_uc022anc.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		ACTGAAAACAACAGTGTGCCA	0.473000														109			73		0	0	0.014410	0	0
DNAJB12	54788	broad.mit.edu	37	10	74100816	74100816	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:74100816G>A	uc001jsz.2	-	3	822	c.672C>T	c.(670-672)ttC>ttT	p.F224F	DNAJB12_uc001jta.2_Silent_p.F224F|DNAJB12_uc010qjv.1_Silent_p.F224F	NM_017626	NP_060096	Q9NXW2	DJB12_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 12 (DNAJB12), transcript variant 2, mRNA.	190					protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|large_intestine(2)|skin(1)	4						AGCCACGGTGGAAATCCCCAT	0.592000														15			20		0	0	0.010504	0	0
GRXCR1	389207	broad.mit.edu	37	4	43032430	43032430	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:43032430C>T	uc003gwt.3	+	3	747	c.746C>T	c.(745-747)cCa>cTa	p.P249L		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	249					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			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GGCTTTCTTCCATGCTCCGTG	0.478000														60			52		0	0	0.014410	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	C	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:95522786T>C	uc010fhp.3	-	0		c.35A>G						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.									p.K44K(1)		large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						CGGCGTCGCCTTTGACAGCTG	0.687000														85			5		0	0	0.000602	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135264979	135264979	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:135264979G>A	uc003qew.3	-	1	333	c.264C>T	c.(262-264)gcC>gcT	p.A88A	ALDH8A1_uc011ecx.2_Silent_p.A88A|ALDH8A1_uc003qex.3_Silent_p.A88A|ALDH8A1_uc010kgh.3_5'UTR	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	Homo sapiens aldehyde dehydrogenase 8 family, member A1 (ALDH8A1), transcript variant 1, mRNA.	88					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		ACTCGGCCTGGGCAAACTCCT	0.567000														4			51		0	0	0.014410	0	0
IRGQ	126298	broad.mit.edu	37	19	44096313	44096313	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:44096313G>A	uc002oww.2	-	1	1855	c.1737C>T	c.(1735-1737)ttC>ttT	p.F579F	IRGQ_uc010eiv.2_Silent_p.F579F	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	Homo sapiens immunity-related GTPase family, Q (IRGQ), mRNA.	579	Ala-rich.						protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CAGGCCACAGGAAGGAGAGAG	0.711000														12			6		0	0	0.001168	0	0
FUT9	10690	broad.mit.edu	37	6	96651051	96651051	+	Missense_Mutation	SNP	G	A	A	rs146406553		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:96651051G>A	uc003pop.4	+	2	361	c.20G>A	c.(19-21)gGa>gAa	p.G7E	FUT9_uc021zcw.1_Missense_Mutation_p.G7E	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	7					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.G7E(4)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ACATCCAAAGGAATTCTTCGC	0.388000														1			12		0	0	0.001855	0	0
WDR33	55339	broad.mit.edu	37	2	128520638	128520638	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:128520638C>T	uc002tpg.2	-	6	921	c.722G>A	c.(721-723)cGa>cAa	p.R241Q	WDR33_uc002tph.2_Missense_Mutation_p.R241Q|WDR33_uc002tpi.2_3'UTR	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	241					postreplication repair|spermatogenesis	collagen|nucleus	protein binding	p.R241R(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		ACACGTACCTCGGAGAATTCT	0.398000														36			22		0	0	0.012319	0	0
IRAK3	11213	broad.mit.edu	37	12	66597655	66597655	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:66597655C>T	uc001sth.3	+	1	400	c.298C>T	c.(298-300)Cat>Tat	p.H100Y	IRAK3_uc010ssy.2_Intron	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.	100	Death.				MyD88-dependent toll-like receptor signaling pathway|interleukin-1-mediated signaling pathway|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB transcription factor activity|positive regulation of macrophage tolerance induction|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TCGAGCTATTCATTTAATTAC	0.368000														23			11		0	0	0.010729	0	0
LPO	4025	broad.mit.edu	37	17	56344852	56344852	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:56344852G>A	uc002ivt.3	+	11	2152	c.1836G>A	c.(1834-1836)ggG>ggA	p.G612G	LPO_uc010wns.2_Silent_p.G553G|LPO_uc010dcp.3_Silent_p.G529G|LPO_uc010dcq.3_Silent_p.G283G|LPO_uc010dcr.3_Silent_p.G175G	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	612					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TCTGGATAGGGGCCATTGCTG	0.577000														71			19		0	0	0.012319	0	0
ZBTB12	221527	broad.mit.edu	37	6	31868444	31868444	+	Silent	SNP	C	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:31868444C>A	uc003nyd.1	-	1	815	c.639G>T	c.(637-639)gtG>gtT	p.V213V	EHMT2_uc003nxz.1_5'Flank|EHMT2_uc003nya.1_5'Flank|EHMT2_uc003nyb.1_5'Flank|CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|ZBTB12_uc021yva.1_Silent_p.V213V|CFB_uc011dop.2_5'Flank	NM_181842	NP_862825	Q9Y330	ZBT12_HUMAN	Homo sapiens zinc finger and BTB domain containing 12 (ZBTB12), mRNA.	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						GGGCCGACTCCACCTTGACGA	0.617000														282			220		9.13219e-98	1.88303e-97	0.014410	1	0
CHRNA3	1136	broad.mit.edu	37	15	78893597	78893597	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr15:78893597C>T	uc002bec.3	-	4	1888	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K	CHRNA3_uc002beb.3_Missense_Mutation_p.E463K|CHRNA3_uc002bea.3_Non-coding_Transcript	NM_000743	NP_000734	P32297	ACHA3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 3 (CHRNA3), transcript variant 1, mRNA.	463					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATCCTTACCTCTTTGGCTTCA	0.398000														44			49		0	0	0.014410	0	0
LDB2	9079	broad.mit.edu	37	4	16504280	16504280	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:16504280G>A	uc003goz.3	-	7	1424	c.1108C>T	c.(1108-1110)Cag>Tag	p.Q370*	LDB2_uc003gpa.3_3'UTR|LDB2_uc011bxh.2_Nonsense_Mutation_p.Q342*|LDB2_uc003gpb.3_Nonsense_Mutation_p.Q368*|LDB2_uc010iee.3_3'UTR|LDB2_uc011bxi.2_3'UTR	NM_001290	NP_001281	O43679	LDB2_HUMAN	Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.	370							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TGGGAAGCCTGGGGTGGGGGG	0.507000														144			129		0	0	0.014410	0	0
PFAS	5198	broad.mit.edu	37	17	8161174	8161174	+	Silent	SNP	T	C	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:8161174T>C	uc002gkr.3	+	9	1266	c.1125T>C	c.(1123-1125)ttT>ttC	p.F375F	PFAS_uc010vuv.2_5'UTR	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	375					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTGGGAATTTTGCCCGGCCCC	0.537000														27			29		0	0	0.006320	0	0
ZNF407	55628	broad.mit.edu	37	18	72589159	72589159	+	Silent	SNP	T	C	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr18:72589159T>C	uc002llw.2	+	3	4937	c.4884T>C	c.(4882-4884)ttT>ttC	p.F1628F	ZNF407_uc010dqu.2_Silent_p.F1628F	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1628					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GCAGGAAATTTACATGCCACT	0.512000														38			28		0	0	0.007291	0	0
TRBV25-1	28562	broad.mit.edu	37	7	142378967	142378967	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:142378967C>T	uc003waa.1	+	1	235	c.235C>T	c.(235-237)Ctt>Ttt	p.L79F	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TRBV23-1_uc022ans.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		GAAGGGAGATCTTTCCTCTGA	0.488000														45			30		0	0	0.012213	0	0
THSD7B	80731	broad.mit.edu	37	2	138169256	138169256	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:138169256G>A	uc002tva.1	+	12	2680	c.2680G>A	c.(2680-2682)Gaa>Aaa	p.E894K	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.E784K	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)		TCCTTGTGATGAATTTATATC	0.458000														58			42		0	0	0.007835	0	0
MTF1	4520	broad.mit.edu	37	1	38301355	38301355	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:38301355G>A	uc001cce.1	-	4	982	c.841C>T	c.(841-843)Cgt>Tgt	p.R281C	MTF1_uc009vvj.1_5'UTR	NM_005955	NP_005946	Q14872	MTF1_HUMAN	Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.	281						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTATGTGTACGAACGTGAGTT	0.408000														25			21		0	0	0.003330	0	0
SRCAP	10847	broad.mit.edu	37	16	30747894	30747894	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr16:30747894C>T	uc002dze.1	+	32	7342	c.6957C>T	c.(6955-6957)ttC>ttT	p.F2319F	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.F2114F	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2319	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCATGAAATTCCTGGAGGCCT	0.542000														52			52		0	0	0.014410	0	0
NLRP5	126206	broad.mit.edu	37	19	56572834	56572834	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:56572834C>T	uc002qmj.3	+	14	3543	c.3543C>T	c.(3541-3543)gtC>gtT	p.V1181V	NLRP5_uc002qmi.3_Silent_p.V1162V	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	1181			V -> I (in dbSNP:rs10409555).			mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGCCCCGAGTCGTAATTGACG	0.517000														29			38		0	0	0.005524	0	0
ASTN1	460	broad.mit.edu	37	1	176903435	176903435	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:176903435G>A	uc001glc.3	-	15	2736	c.2524C>T	c.(2524-2526)Cgt>Tgt	p.R842C	ASTN1_uc001glb.1_Missense_Mutation_p.R842C|ASTN1_uc001gld.1_Missense_Mutation_p.R842C	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	850					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AAATCTGCACGAGATGTAGCC	0.507000														18			17		0	0	0.008871	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102493923	102493923	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr5:102493923G>A	uc003kod.4	+	14	2040	c.1521G>A	c.(1519-1521)ttG>ttA	p.L507L	PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Silent_p.L507L|PPIP5K2_uc010jbo.2_Silent_p.L429L	NM_015216	NP_056031	O43314	VIP2_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA.	507					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CTTTACTTTTGGTTCTAAAAT	0.378000														2			25		0	0	0.010818	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067105	18067105	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:18067105C>T	uc003stz.3	-	0	382	c.301G>A	c.(301-303)Gat>Aat	p.D101N		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	101					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CGGCTCTTATCCTTCTTATCC	0.463000														88			63		0	0	0.014410	0	0
MDFI	4188	broad.mit.edu	37	6	41617465	41617465	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:41617465G>A	uc003oqq.4	+	3	575	c.368G>A	c.(367-369)gGc>gAc	p.G123D	MDFI_uc010jxn.3_Missense_Mutation_p.G123D	NM_005586	NP_005577	Q99750	MDFI_HUMAN	Homo sapiens MyoD family inhibitor (MDFI), mRNA.	123					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			GCCCTGGGTGGCCCCAAGGCC	0.652000														96			75		0	0	0.014410	0	0
ATP7A	538	broad.mit.edu	37	X	77244961	77244961	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:77244961C>T	uc004ecx.4	+	3	1003	c.843C>T	c.(841-843)ttC>ttT	p.F281F	ATP7A_uc004ecw.2_Silent_p.F281F	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	281	HMA 3.				ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CAGCCACTTTCATCATTGATG	0.368000														102			70		0	0	0.014410	0	0
CEACAM19	56971	broad.mit.edu	37	19	45185854	45185854	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:45185854C>T	uc002ozo.4	+	6	1288	c.808C>T	c.(808-810)Cca>Tca	p.P270S	CEACAM19_uc002ozp.4_Missense_Mutation_p.P270S	NM_020219	NP_064604	Q7Z692	CEA19_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 19 (CEACAM19), transcript variant 2, mRNA.	270						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				GCCCACACCCCCACACCTGCA	0.647000														34			15		0	0	0.004007	0	0
AUTS2	26053	broad.mit.edu	37	7	70255400	70255400	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:70255400C>T	uc003tvw.4	+	18	3933	c.3198C>T	c.(3196-3198)ttC>ttT	p.F1066F	AUTS2_uc003tvx.4_Silent_p.F1042F|AUTS2_uc011keg.2_Silent_p.F518F	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	1066										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ACCCTTCTTTCCACTGGGACC	0.617000														14			16		0	0	0.003163	0	0
C15orf59	388135	broad.mit.edu	37	15	74032299	74032299	+	Missense_Mutation	SNP	G	A	A	rs149206275	byFrequency	TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr15:74032299G>A	uc002avy.3	-	1	1186	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S		NM_001039614	NP_001034703	Q2T9L4	CO059_HUMAN	Homo sapiens chromosome 15 open reading frame 59 (C15orf59), mRNA.	281										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCTGTGTAGGGCAGAACCGTC	0.567000														116			89		0	0	0.014410	0	0
UGDH	7358	broad.mit.edu	37	4	39523079	39523079	+	Silent	SNP	G	C	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:39523079G>C	uc003guk.2	-	1	377	c.54C>G	c.(52-54)ccC>ccG	p.P18P	UGDH_uc011byp.2_Intron|UGDH_uc003gul.2_Silent_p.P18P	NM_003359	NP_001171630	O60701	UGDH_HUMAN	Homo sapiens UDP-glucose 6-dehydrogenase (UGDH), transcript variant 1, mRNA.	18					UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|glycosaminoglycan biosynthetic process|xenobiotic metabolic process	cytosol	NAD binding|UDP-glucose 6-dehydrogenase activity|electron carrier activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	CACTACATGTGGGTCCTCCAA	0.393000														51			40		0	0	0.008740	0	0
DOCK11	139818	broad.mit.edu	37	X	117707775	117707775	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:117707775C>T	uc004eqp.2	+	11	1246	c.1183C>T	c.(1183-1185)Ccc>Tcc	p.P395S	DOCK11_uc004eqq.2_Missense_Mutation_p.P161S	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	395					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CCAGGTTGAGCCCTTTTTTAT	0.408000														67			45		0	0	0.013114	0	0
OR10H1	26539	broad.mit.edu	37	19	15918279	15918279	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:15918279C>T	uc002nbq.2	-	0	658	c.569G>A	c.(568-570)gGa>gAa	p.G190E		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CACATCGTCTCCACAGGCCAA	0.562000														44			34		0	0	0.010818	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50471844	50471844	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:50471844C>T	uc003daq.3	-	2	343	c.305G>A	c.(304-306)cGg>cAg	p.R102Q	CACNA2D2_uc003dap.3_Missense_Mutation_p.R102Q	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	102					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GAACAGGTTCCGGTTGTCCTT	0.577000														34			66		0	0	0.014410	0	0
ALMS1	7840	broad.mit.edu	37	2	73678215	73678215	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:73678215C>T	uc002sje.1	+	7	4669	c.4558C>T	c.(4558-4560)Cct>Tct	p.P1520S	ALMS1_uc002sjf.1_Missense_Mutation_p.P1478S|ALMS1_uc002sjg.3_Missense_Mutation_p.P908S|ALMS1_uc002sjh.1_Missense_Mutation_p.P908S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	1520	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						TATAACCTCTCCTTCCTACTC	0.488000														17			33		0	0	0.003271	0	0
OR52A5	390054	broad.mit.edu	37	11	5153739	5153739	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:5153739G>A	uc010qyx.2	-	0	134	c.134C>T	c.(133-135)tCc>tTc	p.S45F		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TAAAATTAGGGAATTTCCAAT	0.403000														27			26		0	0	0.003954	0	0
ROBO1	6091	broad.mit.edu	37	3	78684948	78684948	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:78684948G>A	uc003dqe.2	-	22	3556	c.3348C>T	c.(3346-3348)atC>atT	p.I1116I	ROBO1_uc003dqc.2_Silent_p.I1016I|ROBO1_uc003dqd.2_Silent_p.I1071I|ROBO1_uc003dqb.2_Silent_p.I1077I|ROBO1_uc010hoh.2_Silent_p.I308I|ROBO1_uc011bgl.1_Silent_p.I688I	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	1116					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTTGCTCCACGATGTTGTACT	0.473000														40			17		0	0	0.012319	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455010	187455010	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:187455010C>T	uc003izd.1	-	1	904	c.886G>A	c.(886-888)Ggg>Agg	p.G296R		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	296					G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	TTCAGTAGCCCGTATATAATG	0.502000														67			38		0	0	0.004878	0	0
PASD1	139135	broad.mit.edu	37	X	150789427	150789427	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:150789427T>C	uc004fev.4	+	4	565	c.233T>C	c.(232-234)tTa>tCa	p.L78S		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	78	PAS.					nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AAAAAATTATTAAGCCTTCTG	0.383000														26			29		0	0	0.006230	0	0
MYH2	4620	broad.mit.edu	37	17	10432570	10432570	+	Splice_Site	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:10432570C>T	uc010coi.3	-	26	3392	c.3264_splice	c.e26-1	p.K1088_splice	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Splice_Site_p.K1088_splice|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1088					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						AAACTCTTTCCTTTTAGAAAA	0.333000														21			18		0	0	0.007413	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883961	19883961	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr16:19883961G>A	uc010vav.2	-	1	516	c.285C>T	c.(283-285)atC>atT	p.I95I	GPRC5B_uc021tef.1_Silent_p.I61I|GPRC5B_uc002dgt.3_Silent_p.I69I	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA.	69								p.G94D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGAGCAGTGTGATCAGGGCGC	0.642000														34			42		0	0	0.014410	0	0
CR1	1378	broad.mit.edu	37	1	207741217	207741217	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:207741217G>A	uc001hfy.3	+	16	2791	c.2651G>A	c.(2650-2652)gGa>gAa	p.G884E	CR1_uc009xcl.1_Missense_Mutation_p.G434E|CR1_uc001hfx.3_Missense_Mutation_p.G1334E|CR1_uc021pij.1_Missense_Mutation_p.G884E|CR1_uc009xck.1_Missense_Mutation_p.G434E	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	884	Sushi 14.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGACACACAGGAAAACCTCTG	0.453000														42			35		0	0	0.007835	0	0
MKX	283078	broad.mit.edu	37	10	28023715	28023715	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:28023715C>T	uc001ity.4	-	4	733	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	MKX_uc001itx.4_Missense_Mutation_p.E170K	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.	170					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GGAGGATTTTCTCCATCTAAA	0.413000														3			23		0	0	0.002780	0	0
GPR116	221395	broad.mit.edu	37	6	46826619	46826619	+	Silent	SNP	G	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:46826619G>T	uc003oyo.3	-	16	3310	c.3021C>A	c.(3019-3021)ctC>ctA	p.L1007L	GPR116_uc011dwj.1_Silent_p.L562L|GPR116_uc011dwk.1_Silent_p.L436L|GPR116_uc003oyp.3_Silent_p.L865L|GPR116_uc003oyq.3_Silent_p.L1007L|GPR116_uc010jzi.1_Silent_p.L679L	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1007					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GTATTCCCAGGAGAGAACTAG	0.483000														72			22		2.98393e-07	6.06209e-07	0.002780	1	0
DNAH10	196385	broad.mit.edu	37	12	124335560	124335560	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:124335560C>T	uc001uft.4	+	33	5899	c.5874C>T	c.(5872-5874)atC>atT	p.I1958I		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1958	AAA 1 (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)		TGGTCGTGATCGTGCCCGACC	0.642000														5			32		0	0	0.013726	0	0
SORCS3	22986	broad.mit.edu	37	10	107015522	107015522	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:107015522G>A	uc001kyi.1	+	23	3527	c.3300G>A	c.(3298-3300)ggG>ggA	p.G1100G		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1100						integral to membrane	neuropeptide receptor activity	p.G1100G(2)|p.G1100R(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGAAGCCGGGGGTACAAGTCA	0.453000														24			19		0	0	0.014323	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	A	A	rs121913499		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:209113113G>A	uc002vcs.3	-	3	640	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma									41			29		0	0	0.012213	0	0
OR4B1	119765	broad.mit.edu	37	11	48238568	48238568	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:48238568C>T	uc010rhs.2	+	0	207	c.207C>T	c.(205-207)atC>atT	p.I69I		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E68E(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TGGTGGAGATCAGTTATTCCT	0.473000														31			37		0	0	0.005524	0	0
SPATA6	54558	broad.mit.edu	37	1	48861028	48861028	+	Splice_Site	SNP	T	C	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:48861028T>C	uc001crr.2	-	8	977	c.781_splice	c.e8-1	p.V261_splice	SPATA6_uc001crs.2_Splice_Site_p.V261_splice|SPATA6_uc010omv.2_Splice_Site_p.V247_splice	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN	Homo sapiens spermatogenesis associated 6 (SPATA6), mRNA.	261					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GGGATCAACCTAGAGGAAGCA	0.403000														11			5		0	0	0.000602	0	0
ZNF416	55659	broad.mit.edu	37	19	58087261	58087261	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:58087261G>A	uc002qpf.3	-	2	284	c.113C>T	c.(112-114)tCc>tTc	p.S38F		NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	Homo sapiens zinc finger protein 416 (ZNF416), mRNA.	38	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TTCTTCCTGGGAGAAGTAAAT	0.532000														33			51		0	0	0.014410	0	0
FAM75E1	286234	broad.mit.edu	37	9	90503237	90503237	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr9:90503237G>A	uc004app.4	+	3	3870	c.3835G>A	c.(3835-3837)Gga>Aga	p.G1279R		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	1279						integral to membrane											CCCCAGGAAAGGAGGCACACG	0.552000														2			21		0	0	0.002780	0	0
PCLO	27445	broad.mit.edu	37	7	82545616	82545616	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:82545616G>A	uc003uhx.2	-	6	11975	c.11686C>T	c.(11686-11688)Cct>Tct	p.P3896S	PCLO_uc003uhv.2_Missense_Mutation_p.P3896S|PCLO_uc010lec.3_Missense_Mutation_p.P861S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3827	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTTGGGTAGGAAGAGCAGGG	0.443000														54			70		0	0	0.014410	0	0
PARL	55486	broad.mit.edu	37	3	183551530	183551530	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:183551530G>A	uc003fmd.3	-	7	971	c.912C>T	c.(910-912)ttC>ttT	p.F304F	PARL_uc003fme.3_Silent_p.F254F	NM_018622	NP_061092	Q9H300	PARL_HUMAN	Homo sapiens presenilin associated, rhomboid-like (PARL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	304					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTGTGAACGTGAACATCGGAA	0.453000														3			55		0	0	0.014410	0	0
ZBTB46	140685	broad.mit.edu	37	20	62407078	62407078	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr20:62407078C>T	uc002ygv.2	-	2	1376	c.1175G>A	c.(1174-1176)gGc>gAc	p.G392D	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CAGCAGGGAGCCGTCATCCCC	0.662000											OREG0026130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		39			33		0	0	0.010818	0	0
SLC5A7	60482	broad.mit.edu	37	2	108604737	108604737	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:108604737C>T	uc002tdv.3	+	1	402	c.126C>T	c.(124-126)atC>atT	p.I42I	SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Silent_p.I42I|SLC5A7_uc010ywn.2_Intron	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	42					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GCGAAGCCATCATAGTTGGTG	0.507000														36			24		0	0	0.003330	0	0
FPR2	2358	broad.mit.edu	37	19	52272498	52272498	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:52272498C>T	uc002pxr.3	+	1	632	c.587C>T	c.(586-588)aCc>aTc	p.T196I	FPR2_uc002pxs.4_Missense_Mutation_p.T196I|FPR2_uc010epf.3_Missense_Mutation_p.T196I|FPR2_uc021uyp.1_Missense_Mutation_p.T196I	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	196					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GTGGCCATTACCATGCTGACA	0.493000														49			33		0	0	0.010818	0	0
ATG4A	115201	broad.mit.edu	37	X	107395032	107395032	+	Splice_Site	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:107395032G>A	uc004enr.3	+	11	1119	c.961_splice	c.e11-1	p.G321_splice	ATG4A_uc004ens.3_Splice_Site_p.G237_splice|ATG4A_uc011msl.2_Splice_Site_p.G175_splice|ATG4A_uc010npi.3_Splice_Site|ATG4A_uc004ent.3_Splice_Site_p.G259_splice|COL4A6_uc011msm.1_Intron	NM_052936	NP_443168	Q8WYN0	ATG4A_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog A (S. cerevisiae) (ATG4A), transcript variant 1, mRNA.	321					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						TTCCCCCAAGGGATTTTTCTG	0.398000														180			100		0	0	0.014410	0	0
PRR14L	253143	broad.mit.edu	37	22	32097690	32097690	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr22:32097690G>A	uc003alp.4	-	6	6252	c.6059C>T	c.(6058-6060)cCt>cTt	p.P2020L	PRR14L_uc003alo.2_Missense_Mutation_p.P1819L|PRR14L_uc010gwj.1_Intron	NM_173566	NP_775837	Q5THK1	PR14L_HUMAN	Homo sapiens proline rich 14-like (PRR14L), mRNA.	2020										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						ATCTGGCCTAGGAATGGTTTT	0.443000														38			37		0	0	0.010771	0	0
GPR116	221395	broad.mit.edu	37	6	46874490	46874490	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:46874490G>A	uc003oyo.3	-	1	299	c.10C>T	c.(10-12)Cca>Tca	p.P4S	GPR116_uc003oyp.3_Missense_Mutation_p.P4S|GPR116_uc003oyq.3_Missense_Mutation_p.P4S|GPR116_uc003oyr.2_Missense_Mutation_p.P4S|BC042990_uc003oys.3_Intron	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	4					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GTTCTCCTTGGGGATTTCATG	0.368000														46			21		0	0	0.014323	0	0
SPAG9	9043	broad.mit.edu	37	17	49052209	49052209	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:49052209G>A	uc002itc.3	-	27	3832	c.3623C>T	c.(3622-3624)cCc>cTc	p.P1208L	SPAG9_uc002itd.3_Missense_Mutation_p.P1198L|SPAG9_uc002itb.3_Missense_Mutation_p.P1194L|SPAG9_uc002ita.3_Missense_Mutation_p.P1064L	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.	1208					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TGAACAATAGGGTATAAATGT	0.438000														21			33		0	0	0.010818	0	0
SHANK1	50944	broad.mit.edu	37	19	51200373	51200373	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:51200373C>T	uc002psx.1	-	13	1963	c.1944G>A	c.(1942-1944)atG>atA	p.M648I		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	648					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			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)		CAATCCCATCCATTAAGCTTC	0.647000														48			53		0	0	0.014410	0	0
TECTB	6975	broad.mit.edu	37	10	114044417	114044417	+	Silent	SNP	T	C	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:114044417T>C	uc001kzr.1	+	1	201	c.201T>C	c.(199-201)ggT>ggC	p.G67G		NM_058222	NP_478129	Q96PL2	TECTB_HUMAN	Homo sapiens tectorin beta (TECTB), mRNA.	67	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		ACGAAGGAGGTTACTACCAAT	0.483000														11			7		0	0	0.001984	0	0
SMCHD1	23347	broad.mit.edu	37	18	2762185	2762185	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr18:2762185G>A	uc002klm.4	+	35	4706	c.4517G>A	c.(4516-4518)cGc>cAc	p.R1506H	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Non-coding_Transcript	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	1506					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TCAAATGTTCGCTCAGTTGCC	0.373000														31			29		0	0	0.007291	0	0
MAST1	22983	broad.mit.edu	37	19	12969541	12969541	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:12969541G>A	uc002mvm.3	+	11	1482	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	MAST1_uc021upp.1_Missense_Mutation_p.E276K	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	452	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CATGGTCATGGAATATGTGGA	0.627000														19			8		0	0	0.003080	0	0
KLK12	43849	broad.mit.edu	37	19	51537262	51537262	+	Silent	SNP	G	C	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:51537262G>C	uc002pvh.1	-	2	288	c.171C>G	c.(169-171)gtC>gtG	p.V57V	KLK12_uc002pvg.1_Silent_p.V57V|KLK12_uc010ycp.1_Non-coding_Transcript|KLK12_uc010ycq.1_Missense_Mutation_p.S34C|KLK12_uc010ycr.1_Missense_Mutation_p.S34C|KLK12_uc010ycs.1_Silent_p.V57V|KLK12_uc002pvi.1_Silent_p.V57V|KLK12_uc002pvj.1_Silent_p.V57V	NM_019598	NP_062544	Q9UKR0	KLK12_HUMAN	Homo sapiens kallikrein-related peptidase 12 (KLK12), transcript variant 1, mRNA.	57	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		CCGCTGTGAGGACCCACCTGT	0.637000														4			9		0	0	0.010729	0	0
MUC16	94025	broad.mit.edu	37	19	9057936	9057936	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:9057936G>A	uc002mkp.3	-	2	29714	c.29510C>T	c.(29509-29511)aCc>aTc	p.T9837I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9839	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						TATGGTTATGGTTGTTTCTGA	0.473000														34			20		0	0	0.008871	0	0
KRT13	3860	broad.mit.edu	37	17	39659341	39659341	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:39659341C>T	uc002hwu.1	-	3	808	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	KRT13_uc002hwv.1_Missense_Mutation_p.E249K|KRT13_uc010wfr.2_Missense_Mutation_p.E142K|KRT13_uc010cxo.3_Missense_Mutation_p.E249K|KRT13_uc021txk.1_Missense_Mutation_p.E142K	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	249	Coil 1B.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TTGCTAAATTCCTTCATCTCC	0.567000														125			108		0	0	0.014410	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004186	75004186	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:75004186C>T	uc004ecj.2	-	0	894	c.701G>A	c.(700-702)cGa>cAa	p.R234Q		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	234	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCCAAGAATCGCATGCACAC	0.488000														30			30		0	0	0.007291	0	0
NLRP11	204801	broad.mit.edu	37	19	56297047	56297047	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:56297047G>A	uc010ygf.2	-	11	3757	c.3046C>T	c.(3046-3048)Ccc>Tcc	p.P1016S	NLRP11_uc002qlz.3_Missense_Mutation_p.P863S|NLRP11_uc002qmb.3_Missense_Mutation_p.P917S|NLRP11_uc002qmc.3_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	1016							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)		GACATTCTGGGAAATTTGAAA	0.373000														33			32		0	0	0.012213	0	0
LPXN	9404	broad.mit.edu	37	11	58317539	58317539	+	Silent	SNP	G	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:58317539G>T	uc001nmw.3	-	5	712	c.567C>A	c.(565-567)ccC>ccA	p.P189P	LPXN_uc009ymp.3_Silent_p.P59P|LPXN_uc010rkj.2_Silent_p.P194P|LPXN_uc010rkk.2_Silent_p.P169P	NM_004811	NP_004802	O60711	LPXN_HUMAN	Homo sapiens leupaxin (LPXN), transcript variant 2, mRNA.	189	LIM zinc-binding 1.				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GCTCAAAGAAGGGACTGGAGC	0.502000														189			6		0.00198382	0.00398001	0.001984	1	0
MYOF	26509	broad.mit.edu	37	10	95121266	95121266	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:95121266A>G	uc001kin.3	-	27	3040	c.2917T>C	c.(2917-2919)Tgg>Cgg	p.W973R	MYOF_uc001kio.3_Missense_Mutation_p.W960R|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	973					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCCCATTCCCAACCTGGAGGA	0.448000														82			51		0	0	0.014410	0	0
PILRA	29992	broad.mit.edu	37	7	99971893	99971893	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:99971893C>T	uc003uuo.1	+	1	503	c.291C>T	c.(289-291)ctC>ctT	p.L97L	PILRA_uc011kjn.1_Silent_p.L97L|PILRA_uc011kjo.2_Silent_p.L97L|PILRA_uc003uup.1_Silent_p.L97L|PILRA_uc003uuq.1_Silent_p.L97L	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor alpha (PILRA), transcript variant 1, mRNA.	97	Ig-like V-type.				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGAACCGGCTCTTTCTGAACT	0.547000														82			88		0	0	0.014410	0	0
VSTM4	196740	broad.mit.edu	37	10	50255069	50255069	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:50255069G>A	uc001jhf.2	-	6	825	c.796C>T	c.(796-798)Cat>Tat	p.H266Y		NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	266						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						TTCGGTTTATGGAACGTGGGG	0.478000														108			73		0	0	0.014410	0	0
OR2W5	441932	broad.mit.edu	37	1	247655377	247655377	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:247655377G>A	uc001icz.2	+	0	1008	c.948G>A	c.(946-948)acG>acA	p.T316T		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GAGCCTCAACGAGGGGAACAC	0.498000														41			29		0	0	0.007291	0	0
SPTA1	6708	broad.mit.edu	37	1	158585181	158585181	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:158585181C>T	uc001fst.1	-	47	6812	c.6613G>A	c.(6613-6615)Gag>Aag	p.E2205K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2205					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCTGGATCTCCTTCTGTTTT	0.458000														37			26		0	0	0.005443	0	0
IL36A	27179	broad.mit.edu	37	2	113764228	113764228	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:113764228G>A	uc010yxr.2	+	2	178	c.178G>A	c.(178-180)Ggg>Agg	p.G60R		NM_014440	NP_055255	Q9UHA7	IL36A_HUMAN	Homo sapiens interleukin 36, alpha (IL36A), mRNA.	60					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding	p.G60G(1)		large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						GAAAGACAGAGGGAACCCCAT	0.522000														87			117		0	0	0.014410	0	0
OR10G4	390264	broad.mit.edu	37	11	123886691	123886691	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:123886691G>A	uc010sac.2	+	0	410	c.410G>A	c.(409-411)gGg>gAg	p.G137E		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G137V(2)|p.G137W(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		ATGATGAGTGGGAGCAGGTGT	0.562000														17			62		0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179434020	179434020	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:179434020G>A	uc021vsy.1	-	274	69360	c.69135C>T	c.(69133-69135)atC>atT	p.I23045I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.I16740I|TTN_uc021vta.1_Silent_p.I16673I|TTN_uc021vtb.1_Silent_p.I16548I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23972	Fibronectin type-III 67.						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)			AGTCTTTGGTGATTTCTGTGA	0.408000														63			34		0	0	0.007835	0	0
OTOF	9381	broad.mit.edu	37	2	26702497	26702497	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:26702497C>T	uc002rhk.3	-	16	2064	c.1937G>A	c.(1936-1938)gGc>gAc	p.G646D	OTOF_uc002rhh.3_5'Flank|OTOF_uc002rhi.3_5'Flank|OTOF_uc002rhj.3_5'Flank	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	646					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGGGACAGGCCATCAACTTC	0.637000														32			32		0	0	0.004878	0	0
C1orf65	164127	broad.mit.edu	37	1	223568575	223568575	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:223568575C>A	uc001hoa.2	+	0	1861	c.1758C>A	c.(1756-1758)ttC>ttA	p.F586L		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	586										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TCCAGGAGTTCCAGAAGCTCC	0.547000														38			28		1.74197e-06	3.53152e-06	0.006320	1	0
ZBTB40	9923	broad.mit.edu	37	1	22850922	22850922	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:22850922C>T	uc001bft.2	+	17	4021	c.3510C>T	c.(3508-3510)gcC>gcT	p.A1170A	ZBTB40_uc001bfu.2_Silent_p.A1170A|ZBTB40_uc009vqi.1_Silent_p.A1058A	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	1170					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AGGCCGCAGCCTCACAGATGG	0.552000														26			25		0	0	0.004656	0	0
CD163	9332	broad.mit.edu	37	12	7639179	7639179	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:7639179C>T	uc001qsz.3	-	9	2502	c.2374G>A	c.(2374-2376)Gaa>Aaa	p.E792K	CD163_uc001qta.3_Missense_Mutation_p.E792K|CD163_uc009zfw.2_Missense_Mutation_p.E825K	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	792	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ATGCGGGATTCTTTTCCATTG	0.512000														82			79		0	0	0.014410	0	0
DNAH9	1770	broad.mit.edu	37	17	11784565	11784565	+	Silent	SNP	C	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:11784565C>A	uc002gne.3	+	54	10709	c.10641C>A	c.(10639-10641)ccC>ccA	p.P3547P	DNAH9_uc010coo.3_Silent_p.P2841P|DNAH9_uc002gnf.3_5'Flank	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3547	AAA 5 (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)		AATACAATCCCAAGTTCCGGC	0.493000														68			16		6.94344e-10	1.41658e-09	0.006122	1	0
DNAH6	1768	broad.mit.edu	37	2	84777072	84777072	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:84777072C>T	uc010fgb.3	+	8	1513	c.1376C>T	c.(1375-1377)gCt>gTt	p.A459V	DNAH6_uc002soo.3_Missense_Mutation_p.A38V|DNAH6_uc002sop.3_Missense_Mutation_p.A38V	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	459	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ACGGTAAATGCTGTTAATTCG	0.353000														16			10		0	0	0.008291	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870774	51870774	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr20:51870774G>A	uc002xwo.3	+	1	1664	c.777G>A	c.(775-777)agG>agA	p.R259R	TSHZ2_uc021wex.1_Silent_p.R256R	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	259					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CAAAGCCCAGGAAAAGGGCTT	0.478000														26			16		0	0	0.004007	0	0
PCDH20	64881	broad.mit.edu	37	13	61986484	61986484	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr13:61986484G>A	uc001vid.4	-	1	2112	c.1748C>T	c.(1747-1749)tCc>tTc	p.S583F	PCDH20_uc010thj.2_Missense_Mutation_p.S583F	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	556	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R583I(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ACTGTCTAAGGAAAAATATGA	0.453000														46			35		0	0	0.003271	0	0
OR1J4	26219	broad.mit.edu	37	9	125282217	125282217	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr9:125282217C>T	uc011lyw.2	+	0	798	c.798C>T	c.(796-798)gcC>gcT	p.A266A		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CATCCAGTGCCTCCAGTGACA	0.473000														4			18		0	0	0.006122	0	0
CLPP	8192	broad.mit.edu	37	19	6366267	6366267	+	Splice_Site	SNP	A	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:6366267A>T	uc002mem.1	+	5	679	c.556_splice	c.e5-2	p.G186_splice		NM_006012	NP_006003	Q16740	CLPP_HUMAN	Homo sapiens ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli) (CLPP), nuclear gene encoding mitochondrial protein, mRNA.	186					proteolysis	mitochondrial matrix	ATP binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|ovary(2)	6						GACGTCCCTCAGGGCCAAGCC	0.582000														6			7		0	0	0.001984	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64747412	64747412	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr5:64747412G>A	uc003jtp.3	-	6	1777	c.963C>T	c.(961-963)tcC>tcT	p.S321S	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_5'UTR	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	321	Peptidase M12B.				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)		AGCTATCGAGGGACTTGTCTG	0.413000														0			26		0	0	0.005443	0	0
SUZ12	23512	broad.mit.edu	37	17	30303584	30303584	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:30303584G>A	uc002hgs.2	+	7	1090	c.868G>A	c.(868-870)Gat>Aat	p.D290N	SUZ12_uc002hgt.2_Missense_Mutation_p.D267N	NM_015355	NP_056170	Q15022	SUZ12_HUMAN	Homo sapiens suppressor of zeste 12 homolog (Drosophila) (SUZ12), mRNA.	290					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				AAATCGTGAGGATGGGGAAAA	0.333000			T	JAZF1	endometrial stromal tumours									16			20		0	0	0.014323	0	0
CNTN1	1272	broad.mit.edu	37	12	41410483	41410483	+	Splice_Site	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:41410483G>A	uc001rmm.1	+	19	2298	c.2185_splice	c.e19-1	p.P729_splice	CNTN1_uc001rmn.1_Splice_Site_p.P718_splice	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	729	Fibronectin type-III 2.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TTTCTATTTAGCCTTTGTCAA	0.368000														21			6		0	0	0.001168	0	0
SLC4A11	83959	broad.mit.edu	37	20	3211616	3211616	+	Silent	SNP	G	A	A	rs139297339		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr20:3211616G>A	uc010zqe.2	-	9	1385	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	SLC4A11_uc002wig.3_Silent_p.F393F|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Silent_p.F377F	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	393	Membrane (bicarbonate transporter).				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						TGAGAGACCCGAAAGCGATGG	0.627000														41			50		0	0	0.014410	0	0
FLG	2312	broad.mit.edu	37	1	152281783	152281783	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:152281783C>T	uc001ezu.1	-	2	5615	c.5579G>A	c.(5578-5580)gGa>gAa	p.G1860E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1860	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			ACTTCTGGATCCTGACTGCCC	0.552000									Ichthyosis					201			193		0	0	0.014410	0	0
PLD5	200150	broad.mit.edu	37	1	242253243	242253243	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:242253243C>T	uc001hzn.2	-	10	1751	c.1524G>A	c.(1522-1524)ccG>ccA	p.P508P	PLD5_uc021pll.1_Silent_p.P416P|PLD5_uc001hzl.4_Silent_p.P446P|PLD5_uc001hzm.4_Silent_p.P300P|PLD5_uc001hzo.2_Silent_p.P416P	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	508						integral to membrane	catalytic activity	p.P508P(1)|p.P416P(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TTGAGCAGTTCGGCTGTTTGG	0.453000														101			93		0	0	0.014410	0	0
LEPR	3953	broad.mit.edu	37	1	66102125	66102125	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:66102125G>A	uc001dci.3	+	19	3314	c.2925G>A	c.(2923-2925)gaG>gaA	p.E975E	LEPR_uc009waq.3_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	975					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TAACCTATGAGGACGAAAGCC	0.418000														19			15		0	0	0.002450	0	0
LPHN2	23266	broad.mit.edu	37	1	82408790	82408790	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:82408790C>T	uc001dit.4	+	5	716	c.535C>T	c.(535-537)Cgt>Tgt	p.R179C	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.R179C|LPHN2_uc001div.3_Missense_Mutation_p.R179C|LPHN2_uc009wcd.3_Missense_Mutation_p.R179C	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	179	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.R179C(3)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GACTCCCTATCGTACCGATAC	0.398000														22			16		0	0	0.006122	0	0
COL6A3	1293	broad.mit.edu	37	2	238277429	238277429	+	Silent	SNP	G	A	A	rs147215386		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:238277429G>A	uc002vwl.2	-	9	4962	c.4677C>T	c.(4675-4677)ttC>ttT	p.F1559F	COL6A3_uc002vwo.2_Silent_p.F1353F|COL6A3_uc010znj.1_Silent_p.F952F	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1559	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCACCTGGGCGAACCTGGACA	0.572000														68			50		0	0	0.014410	0	0
RAMP3	10268	broad.mit.edu	37	7	45222997	45222997	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:45222997G>A	uc003tnb.3	+	2	494	c.433G>A	c.(433-435)Gac>Aac	p.D145N		NM_005856	NP_005847	O60896	RAMP3_HUMAN	Homo sapiens receptor (G protein-coupled) activity modifying protein 3 (RAMP3), mRNA.	145					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity	p.D145N(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	CAAACGCACCGACACGCTGCT	0.627000														102			70		0	0	0.014410	0	0
OR11L1	391189	broad.mit.edu	37	1	248004797	248004797	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:248004797G>A	uc001idn.1	-	0	402	c.402C>T	c.(400-402)ttC>ttT	p.F134F		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P133L(1)|p.P133H(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GATGCATGAGGAAGGGGTAGC	0.582000														23			18		0	0	0.008871	0	0
MPP7	143098	broad.mit.edu	37	10	28420515	28420515	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:28420515G>A	uc001iua.1	-	7	825	c.421C>T	c.(421-423)Cgt>Tgt	p.R141C	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.R141C|MPP7_uc009xla.2_Missense_Mutation_p.R141C|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	141	PDZ.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	p.R141H(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TTGACCAGACGGATTATTTTT	0.428000														5			49		0	0	0.014410	0	0
HTR2A	3356	broad.mit.edu	37	13	47466685	47466685	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr13:47466685C>T	uc010acr.3	-	2	1142	c.453G>A	c.(451-453)tgG>tgA	p.W151*	HTR2A_uc001vbr.3_Nonsense_Mutation_p.W67*	NM_000621	NP_000612	P28223	5HT2A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA.	151					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCAGGTAAATCCAGACTGCAC	0.592000														81			82		0	0	0.014410	0	0
C6	729	broad.mit.edu	37	5	41153958	41153958	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr5:41153958C>T	uc003jmk.2	-	14	2454	c.2244G>A	c.(2242-2244)ggG>ggA	p.G748G	C6_uc003jml.1_Silent_p.G748G	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	748	C5b-binding domain.|Sushi 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.G748G(2)|p.G748R(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCCAGGAATTCCCCTGGCATG	0.473000														7			4		0	0	0.000602	0	0
GPR110	266977	broad.mit.edu	37	6	46977447	46977447	+	Missense_Mutation	SNP	G	C	C	rs138703993		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:46977447G>C	uc003oyt.3	-	10	1923	c.1724C>G	c.(1723-1725)cCt>cGt	p.P575R	GPR110_uc011dwl.2_Missense_Mutation_p.P263R	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	575	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GGGGACAAAAGGTGACATCAA	0.468000														37			35		0	0	0.009718	0	0
LRRC32	2615	broad.mit.edu	37	11	76372352	76372352	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:76372352G>A	uc001oxq.4	-	2	528	c.285C>T	c.(283-285)gcC>gcT	p.A95A	LRRC32_uc001oxr.4_Silent_p.A95A|LRRC32_uc010rsf.2_Silent_p.A95A	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	95						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GGTGGGTCAGGGCCTGGAAGG	0.657000														42			52		0	0	0.014410	0	0
NLRP9	338321	broad.mit.edu	37	19	56244087	56244087	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:56244087G>A	uc002qly.3	-	1	1138	c.1110C>T	c.(1108-1110)tcC>tcT	p.S370S		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	370	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTGTTAAAAAGGATGCATATA	0.438000														40			65		0	0	0.014410	0	0
GPR98	84059	broad.mit.edu	37	5	89986803	89986803	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr5:89986803C>T	uc003kju.3	+	30	6992	c.6896C>T	c.(6895-6897)aCc>aTc	p.T2299I	GPR98_uc003kjt.3_Intron|GPR98_uc003kjv.3_5'Flank	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2299	Calx-beta 16.				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)		CCTGGGGAAACCATTCAAACC	0.493000														3			27		0	0	0.006320	0	0
CCDC3	83643	broad.mit.edu	37	10	12940584	12940585	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:12940584_12940585CC>TT	uc001ilq.1	-	2	778_779	c.644_645GG>AA	c.(643-645)cgg>cAA	p.R215Q	CCDC3_uc009xjb.1_Non-coding_Transcript|CCDC3_uc001ilr.2_Non-coding_Transcript|CCDC3_uc009xjc.1_Non-coding_Transcript|CCDC3_uc021pna.1_Non-coding_Transcript	NM_031455	NP_113643	Q9BQI4	CCDC3_HUMAN	Homo sapiens coiled-coil domain containing 3 (CCDC3), mRNA.	215						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			CCCGGAGCTGCCGGTTGCGCTT	0.604000														11			51		0	0	0.004672	0	0
LPHN2	23266	broad.mit.edu	37	1	82416061	82416061	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:82416061C>T	uc001dit.4	+	6	1568	c.1387C>T	c.(1387-1389)Ccc>Tcc	p.P463S	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.P463S|LPHN2_uc001div.3_Missense_Mutation_p.P463S|LPHN2_uc009wcd.3_Missense_Mutation_p.P463S|LPHN2_uc001diw.3_Missense_Mutation_p.P34S	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	463					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AAATATTTTTCCCCTGCCAGA	0.463000														11			10		0	0	0.006214	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013428	73013428	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:73013428C>T	uc003hgg.2	+	3	1566	c.1468C>T	c.(1468-1470)Cct>Tct	p.P490S	NPFFR2_uc010iig.2_Missense_Mutation_p.P272S|NPFFR2_uc003hgi.2_Missense_Mutation_p.P391S|NPFFR2_uc003hgh.2_Missense_Mutation_p.P388S	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	490					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			ATTTCAAAACCCTCATGGGGA	0.378000														39			38		0	0	0.008740	0	0
THAP4	51078	broad.mit.edu	37	2	242572709	242572709	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:242572709G>A	uc002wbt.3	-	1	1156	c.863C>T	c.(862-864)tCa>tTa	p.S288L		NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	Homo sapiens THAP domain containing 4 (THAP4), transcript variant 1, mRNA.	288							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		CGCGGTAAGTGATGAGCTGGG	0.647000														97			59		0	0	0.014410	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516557	140516557	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr5:140516557C>T	uc003liq.3	+	0	1758	c.1541C>T	c.(1540-1542)gCc>gTc	p.A514V		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	514	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCTGTTTGCCCTCAGGTCG	0.697000														4			44		0	0	0.014410	0	0
ZNF512	84450	broad.mit.edu	37	2	27824259	27824259	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:27824259C>T	uc002rla.3	+	6	706	c.619C>T	c.(619-621)Cgt>Tgt	p.R207C	ZNF512_uc010ylw.2_Missense_Mutation_p.R178C|ZNF512_uc002rlb.3_Missense_Mutation_p.R128C|ZNF512_uc010ylx.2_Missense_Mutation_p.R128C|ZNF512_uc002rlc.3_Missense_Mutation_p.R128C|ZNF512_uc010ylv.2_Missense_Mutation_p.R128C|ZNF512_uc010yly.1_Non-coding_Transcript|ZNF512_uc010ylz.2_Missense_Mutation_p.R100C	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN	Homo sapiens zinc finger protein 512 (ZNF512), mRNA.	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R207H(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					GAAACAACTTCGTTCACTGGC	0.378000														54			60		0	0	0.014410	0	0
LOC440563	440563	broad.mit.edu	37	1	13183469	13183469	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:13183469G>A	uc010obg.2	-	1	647	c.404C>T	c.(403-405)cCc>cTc	p.P135L		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	135						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										CAGAGCAATGGGAGGAGGAGG	0.512000														168			22		0	0	0.002780	0	0
DCC	1630	broad.mit.edu	37	18	50592416	50592416	+	Splice_Site	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr18:50592416G>A	uc002lfe.2	+	7	1757	c.1141_splice	c.e7-1	p.G381_splice	DCC_uc010xdr.1_Splice_Site_p.G229_splice|DCC_uc010dpf.2_Splice_Site_p.G36_splice	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	381	Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTTTCCCTAGGGAGGAAGCAA	0.408000														24			17		0	0	0.006122	0	0
NOS2	4843	broad.mit.edu	37	17	26106012	26106012	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:26106012C>T	uc002gzu.3	-	9	1339	c.1075G>A	c.(1075-1077)Gtg>Atg	p.V359M	NOS2_uc010crh.1_Missense_Mutation_p.V359M|NOS2_uc010wab.1_Missense_Mutation_p.V359M	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	359					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AGGCCGCCCACCTCAAGCAGC	0.562000														47			33		0	0	0.013726	0	0
CHRM3	1131	broad.mit.edu	37	1	240070799	240070799	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:240070799C>T	uc021plc.1	+	0	48	c.48C>T	c.(46-48)atC>atT	p.I16I	CHRM3_uc001hyp.3_Silent_p.I16I	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	16					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TTCCAAACATCAGCTCCTCCT	0.502000														52			33		0	0	0.013726	0	0
NPAS4	266743	broad.mit.edu	37	11	66191083	66191083	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:66191083G>A	uc001ohx.1	+	5	1019	c.843G>A	c.(841-843)gtG>gtA	p.V281V	NPAS4_uc010rpc.1_Silent_p.V71V	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	281	PAC.				transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CAGAGATGGTGGTGAGGCTAC	0.517000														59			46		0	0	0.014410	0	0
APCS	325	broad.mit.edu	37	1	159557927	159557927	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:159557927C>T	uc001ftv.3	+	1	197	c.101C>T	c.(100-102)tCt>tTt	p.S34F		NM_001639	NP_001630	P02743	SAMP_HUMAN	Homo sapiens amyloid P component, serum (APCS), mRNA.	34	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					CCTAGAGAATCTGTTACTGAT	0.423000														33			26		0	0	0.003954	0	0
CHAT	1103	broad.mit.edu	37	10	50859978	50859978	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:50859978G>A	uc001jhz.2	+	10	1713	c.1560G>A	c.(1558-1560)ggG>ggA	p.G520G	CHAT_uc001jhv.1_Silent_p.G402G|CHAT_uc001jhx.1_Silent_p.G402G|CHAT_uc001jhy.1_Silent_p.G402G|CHAT_uc001jia.2_Silent_p.G438G|CHAT_uc010qgs.1_Silent_p.G402G	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	520	Coenzyme A binding.				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.G520G(2)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	ACAACTATGGGAAAACATTCA	0.413000														21			17		0	0	0.004990	0	0
FRAS1	80144	broad.mit.edu	37	4	79321903	79321903	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:79321903C>T	uc003hlb.2	+	29	4431	c.3991C>T	c.(3991-3993)Cag>Tag	p.Q1331*	FRAS1_uc003hkw.3_Nonsense_Mutation_p.Q1331*	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1330					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAGGGGTCTTCAGCTTGTGGC	0.428000														20			7		0	0	0.004482	0	0
ZNF283	284349	broad.mit.edu	37	19	44352174	44352174	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:44352174T>C	uc002oxr.4	+	6	1689	c.1421T>C	c.(1420-1422)cTt>cCt	p.L474P	ZNF283_uc002oxp.4_Missense_Mutation_p.L335P	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	Homo sapiens zinc finger protein 283 (ZNF283), mRNA.	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				GGTTCAAGCCTTGTTAAACAT	0.413000														43			34		0	0	0.004878	0	0
CIDEC	63924	broad.mit.edu	37	3	9911928	9911928	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:9911928C>T	uc003btp.3	-	3	345	c.325G>A	c.(325-327)Gag>Aag	p.E109K	CIDEC_uc003bto.3_Intron|CIDEC_uc010hcp.3_Intron|CIDEC_uc003btq.3_Missense_Mutation_p.E96K|CIDEC_uc003btr.3_Missense_Mutation_p.E22K|CIDEC_uc021wsv.1_Missense_Mutation_p.E96K|CIDEC_uc021wsw.1_Missense_Mutation_p.E106K|CIDEC_uc003bts.3_Missense_Mutation_p.E22K	NM_001199623	NP_001186552	Q96AQ7	CIDEC_HUMAN	Homo sapiens cell death-inducing DFFA-like effector c (CIDEC), transcript variant 1, mRNA.	96	CIDE-N.				apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					TGGAAGTACTCTTCTGTCTCT	0.557000														82			30		0	0	0.010818	0	0
CES3	23491	broad.mit.edu	37	16	67000216	67000216	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr16:67000216G>A	uc002eqt.3	+	6	968	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	CES3_uc010cdz.3_Missense_Mutation_p.E297K|CES3_uc010viw.2_5'Flank	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA.	297						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TCAGCAGAAAGAAGGAGAAGA	0.567000														1			33		0	0	0.010818	0	0
OR9K2	441639	broad.mit.edu	37	12	55524141	55524141	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:55524141C>T	uc010spe.2	+	0	589	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R197L(1)		NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TTGCGCTTCTCGGGCTGTTGA	0.403000														21			32		0	0	0.010818	0	0
NLRP3	114548	broad.mit.edu	37	1	247587456	247587456	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:247587456G>A	uc001icr.3	+	4	849	c.711G>A	c.(709-711)agG>agA	p.R237R	NLRP3_uc001ics.3_Silent_p.R237R|NLRP3_uc001icu.3_Silent_p.R237R|NLRP3_uc001icw.3_Silent_p.R237R|NLRP3_uc001icv.3_Silent_p.R237R|NLRP3_uc010pyw.2_Silent_p.R235R|NLRP3_uc001ict.1_Silent_p.R235R	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	237	NACHT.				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)			TCCTGGCCAGGAAGATGATGT	0.537000														28			33		0	0	0.012213	0	0
KIAA0319	9856	broad.mit.edu	37	6	24563610	24563610	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:24563610C>T	uc011djo.2	-	15	3068	c.2568G>A	c.(2566-2568)aaG>aaA	p.K856K	KIAA0319_uc011djp.2_Silent_p.K811K|KIAA0319_uc003neh.1_Silent_p.K856K|KIAA0319_uc011djq.1_Silent_p.K847K|KIAA0319_uc011djr.1_Silent_p.K856K|KIAA0319_uc010jpt.1_Silent_p.K267K	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	856					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GGGCCCGAATCTTCTGGACCT	0.567000														27			21		0	0	0.014323	0	0
TRIM67	440730	broad.mit.edu	37	1	231344874	231344874	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:231344874C>T	uc009xfn.1	+	7	2043	c.2001C>T	c.(1999-2001)gcC>gcT	p.A667A		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	Homo sapiens tripartite motif containing 67 (TRIM67), mRNA.	667	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding	p.P666T(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CAGACCCCGCCTTCGGGGTGG	0.632000														127			8		0	0	0.004482	0	0
KLKB1	3818	broad.mit.edu	37	4	187179233	187179233	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:187179233T>A	uc003iyy.3	+	14	1855	c.1784T>A	c.(1783-1785)aTc>aAc	p.I595N	KLKB1_uc011clc.2_Missense_Mutation_p.I393N|KLKB1_uc011cld.2_Missense_Mutation_p.H510Q	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	595	Peptidase S1.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TTGGTGGGCATCACCAGCTGG	0.483000														76			52		0	0	0.014410	0	0
ABCA9	10350	broad.mit.edu	37	17	67028394	67028394	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:67028394G>A	uc002jhu.3	-	9	1443	c.1300C>T	c.(1300-1302)Ccc>Tcc	p.P434S	ABCA9_uc010dez.3_Missense_Mutation_p.P434S	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	434					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AAAAACAAGGGAGAACATCGA	0.443000														19			23		0	0	0.004656	0	0
ISM1	140862	broad.mit.edu	37	20	13279729	13279729	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr20:13279729C>T	uc010gce.1	+	5	1024	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.	340	AMOP.					extracellular region		p.D339N(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CATCTTCGACCGCATCAAGCG	0.592000														35			7		0	0	0.008291	0	0
OSMR	9180	broad.mit.edu	37	5	38876401	38876401	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr5:38876401C>T	uc003jln.2	+	2	574	c.172C>T	c.(172-174)Cct>Tct	p.P58S	OSMR_uc003jlm.2_Missense_Mutation_p.P58S	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	58					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CCACAACCTTCCTTATCATCA	0.388000														20			21		0	0	0.010504	0	0
KLHL18	23276	broad.mit.edu	37	3	47378198	47378199	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:47378198_47378199CC>TT	uc003crd.3	+	6	1198_1199	c.1072_1073CC>TT	c.(1072-1074)ccg>TTg	p.P358L	KLHL18_uc003crc.2_Missense_Mutation_p.P358L|KLHL18_uc011bav.2_Missense_Mutation_p.P246L|KLHL18_uc010hjq.2_Missense_Mutation_p.P214L	NM_025010	NP_079286	O94889	KLH18_HUMAN	Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA.	358								p.N357S(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GGCCTACAACCCGGAGACAGAC	0.594000														30			28		0	0	0.004672	0	0
CSMD2	114784	broad.mit.edu	37	1	33999434	33999434	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:33999434G>T	uc001bxm.1	-	62	10130	c.9953C>A	c.(9952-9954)cCa>cAa	p.P3318Q	CSMD2_uc001bxn.1_Missense_Mutation_p.P3174Q	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3174						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)				GGTCAGGTTTGGGAGGCAGGT	0.562000														42			5		0.00198382	0.00398001	0.001984	1	0
CYP2C19	1557	broad.mit.edu	37	10	96541601	96541601	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:96541601C>T	uc010qnz.2	+	4	666	c.666C>T	c.(664-666)atC>atT	p.I222I	CYP2C19_uc009xus.1_Silent_p.I87I|CYP2C19_uc010qny.2_Silent_p.I200I	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	222					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TTCCCACTATCATTGATTATT	0.294000														9			7		0	0	0.001984	0	0
RFTN1	23180	broad.mit.edu	37	3	16419364	16419364	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:16419364C>T	uc003cay.3	-	4	969	c.687G>A	c.(685-687)ggG>ggA	p.G229G	RFTN1_uc010hes.3_Silent_p.G193G	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	Homo sapiens raftlin, lipid raft linker 1 (RFTN1), mRNA.	229						plasma membrane		p.G229E(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GGGGCACCTCCCCTCTGGGGC	0.627000														21			26		0	0	0.003954	0	0
PDE4A	5141	broad.mit.edu	37	19	10565554	10565554	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:10565554G>A	uc002moj.2	+	6	941	c.833G>A	c.(832-834)aGg>aAg	p.R278K	PDE4A_uc021uow.1_Missense_Mutation_p.R256K|PDE4A_uc002mok.2_Missense_Mutation_p.R252K|PDE4A_uc002mol.2_Missense_Mutation_p.R217K|PDE4A_uc002mom.2_Missense_Mutation_p.R39K	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA.	278					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	GAAATGAGCAGGTCCGGAAAC	0.517000														35			48		0	0	0.014410	0	0
PRAME	23532	broad.mit.edu	37	22	22892178	22892178	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr22:22892178A>G	uc002zwf.3	-	3	1079	c.923T>C	c.(922-924)tTc>tCc	p.F308S	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.F292S|PRAME_uc010gtr.3_Missense_Mutation_p.F308S|PRAME_uc002zwg.3_Missense_Mutation_p.F308S|PRAME_uc002zwh.3_Missense_Mutation_p.F308S|PRAME_uc002zwi.3_Missense_Mutation_p.F308S|PRAME_uc002zwj.3_Missense_Mutation_p.F308S|PRAME_uc002zwk.3_Missense_Mutation_p.F308S	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	308					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		GCCTCTAAGGAAAAATAAAGA	0.488000														25			28		0	0	0.005443	0	0
CCDC164	92749	broad.mit.edu	37	2	26676285	26676285	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:26676285G>A	uc002rhg.2	+	13	1861	c.1787G>A	c.(1786-1788)gGa>gAa	p.G596E		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	Homo sapiens coiled-coil domain containing 164 (CCDC164), mRNA.	596	Glu-rich.									cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|stomach(1)	35						gagatggagggagaaaaggaa	0.572000														46			39		0	0	0.005524	0	0
C4orf29	80167	broad.mit.edu	37	4	128930340	128930340	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:128930340C>T	uc021xrt.1	+	5	754	c.436C>T	c.(436-438)Cct>Tct	p.P146S	C4orf29_uc021xrs.1_Non-coding_Transcript|C4orf29_uc003ifq.2_Non-coding_Transcript|C4orf29_uc003ift.3_5'Flank|C4orf29_uc003ifu.3_5'Flank|C4orf29_uc010inz.3_5'Flank|C4orf29_uc003ifv.3_5'Flank	NM_001039717	NP_001034806	Q0P651	CD029_HUMAN	Homo sapiens chromosome 4 open reading frame 29 (C4orf29), mRNA.	146						extracellular region				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GTTAGAAAACCCTTATTATAT	0.328000														2			8		0	0	0.003080	0	0
CCL14	6358	broad.mit.edu	37	17	34313661	34313661	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:34313661G>A	uc010wcr.1	-	0	104	c.25C>T	c.(25-27)Ccc>Tcc	p.P9S	CCL14_uc010wcq.1_Missense_Mutation_p.P9S|CCL14_uc002hkn.2_Non-coding_Transcript|CCL15_uc010wcs.2_Non-coding_Transcript|CCL15_uc010wct.2_Non-coding_Transcript|BC070118_uc002hkq.3_Non-coding_Transcript	NM_032963	NP_116739	Q16627	CCL14_HUMAN	Homo sapiens chemokine (C-C motif) ligand 14 (CCL14), transcript variant 3, mRNA.	9					cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity			large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGAAGAAGGGAATGGCAGCC	0.567000														32			24		0	0	0.003954	0	0
EPB42	2038	broad.mit.edu	37	15	43498717	43498717	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr15:43498717G>T	uc001zrb.4	-	9	1819	c.1519C>A	c.(1519-1521)Ctg>Atg	p.L507M	EPB42_uc001zqz.4_Missense_Mutation_p.L144M|EPB42_uc001zra.4_Missense_Mutation_p.L477M|EPB42_uc010udm.2_Missense_Mutation_p.L399M	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	477					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TTCAAGAGCAGGTACAGAGGA	0.552000														136			6		8.12818e-05	0.000163752	0.001984	1	0
AOAH	313	broad.mit.edu	37	7	36616230	36616230	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:36616230C>T	uc022abu.1	-	12	1372	c.971G>A	c.(970-972)tGg>tAg	p.W324*	AOAH_uc003tfh.4_Nonsense_Mutation_p.W324*|AOAH_uc011kba.2_Nonsense_Mutation_p.W292*	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	324					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						GTTTCTTTTCCATAAGCGAAG	0.308000														44			25		0	0	0.008361	0	0
COL4A4	1286	broad.mit.edu	37	2	227963478	227963478	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:227963478C>T	uc021vxr.1	-	17	1237	c.1136G>A	c.(1135-1137)gGa>gAa	p.G379E	COL4A4_uc021vxs.1_Missense_Mutation_p.G379E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	379	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCCTGTTTCTCCATAGCGGCC	0.527000														37			34		0	0	0.003271	0	0
MLNR	2862	broad.mit.edu	37	13	49795328	49795328	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr13:49795328C>T	uc010tgj.2	+	0	855	c.855C>T	c.(853-855)gcC>gcT	p.A285A		NM_001507	NP_001498	O43193	MTLR_HUMAN	Homo sapiens motilin receptor (MLNR), mRNA.	285					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		GAGGCCCGGCCGCCTCGGGGC	0.721000														8			22		0	0	0.010504	0	0
GNL3L	54552	broad.mit.edu	37	X	54585023	54585023	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:54585023C>T	uc022bxi.1	+	14	1857	c.1601C>T	c.(1600-1602)cCc>cTc	p.P534L	GNL3L_uc004dti.3_Non-coding_Transcript|GNL3L_uc004dth.2_Missense_Mutation_p.P534L	NM_001184819	NP_061940	Q9NVN8	GNL3L_HUMAN	Homo sapiens guanine nucleotide binding protein-like 3 (nucleolar)-like (GNL3L), transcript variant 1, mRNA.	534					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						GAGACGGACCCCCTGCAACAG	0.572000														24			18		0	0	0.006122	0	0
GFRAL	389400	broad.mit.edu	37	6	55196536	55196536	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:55196536G>A	uc003pcm.1	+	1	132	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	16						integral to membrane	receptor activity	p.E16Q(2)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTTGGAAAATGAATACACTTC	0.333000														22			36		0	0	0.007835	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882709	228882709	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:228882709C>T	uc002vpq.2	-	6	2908	c.2861G>A	c.(2860-2862)gGa>gAa	p.G954E	SPHKAP_uc002vpp.2_Missense_Mutation_p.G954E|SPHKAP_uc010zlx.1_Missense_Mutation_p.G954E	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	954						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)		GGGTTGTTTTCCACTGGAGTT	0.493000														53			51		0	0	0.014410	0	0
KCNQ3	3786	broad.mit.edu	37	8	133192441	133192441	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr8:133192441C>T	uc003ytj.3	-	3	965	c.740G>A	c.(739-741)tGg>tAg	p.W247*	KCNQ3_uc003yti.3_Nonsense_Mutation_p.W127*|KCNQ3_uc010mdt.3_Nonsense_Mutation_p.W247*	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	247					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.W247*(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CAGAAGCTTCCAGGTGCCACC	0.597000														49			38		0	0	0.005524	0	0
OR10A7	121364	broad.mit.edu	37	12	55614883	55614883	+	Silent	SNP	T	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:55614883T>A	uc010spf.2	+	0	75	c.75T>A	c.(73-75)gtT>gtA	p.V25V		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	25					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						AGATGCAAGTTTCCCTCTTTA	0.378000														30			24		0	0	0.003330	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274365	39274365	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:39274365C>T	uc002hvz.3	-	0	242	c.203G>A	c.(202-204)aGa>aAa	p.R68K		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	68	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GATGCAGCATCTGGGGCGGCA	0.662000														38			22		0	0	0.012319	0	0
BCAS1	8537	broad.mit.edu	37	20	52583470	52583470	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr20:52583470G>A	uc002xws.2	-	8	1663	c.1325C>T	c.(1324-1326)tCt>tTt	p.S442F	BCAS1_uc010zza.1_Intron|BCAS1_uc010zzb.1_Missense_Mutation_p.S390F|BCAS1_uc010gim.2_Intron|BCAS1_uc002xwt.2_Missense_Mutation_p.S428F|BCAS1_uc010gil.1_Intron	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	442						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CGCCATCAGAGAGGTTCTTGG	0.473000														109			98		0	0	0.014410	0	0
ZNF804A	91752	broad.mit.edu	37	2	185798432	185798432	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:185798432C>T	uc002uph.3	+	2	952	c.358C>T	c.(358-360)Ctg>Ttg	p.L120L		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	120						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						CCTGCACAAGCTGGCTGAGCT	0.403000														11			6		0	0	0.001984	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110447480	110447480	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr8:110447480C>T	uc003yne.3	+	28	3506	c.3402C>T	c.(3400-3402)tcC>tcT	p.S1134S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1134	IPT/TIG 4.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGCTGTGTCCATGGCTGATG	0.428000										HNSCC(38;0.096)				57			57		0	0	0.014410	0	0
CPNE1	8904	broad.mit.edu	37	20	34214185	34214185	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr20:34214185G>A	uc010zvj.2	-	15	1974	c.1607C>T	c.(1606-1608)cCt>cTt	p.P536L	CPNE1_uc002xde.3_Missense_Mutation_p.P507L|CPNE1_uc002xdf.3_Missense_Mutation_p.P531L|CPNE1_uc002xdi.3_Missense_Mutation_p.P531L|CPNE1_uc002xdj.3_Missense_Mutation_p.P531L|CPNE1_uc002xdl.3_Missense_Mutation_p.P531L|CPNE1_uc002xdm.3_Missense_Mutation_p.P531L	NM_003915	NP_690905	Q99829	CPNE1_HUMAN	Homo sapiens copine I (CPNE1), transcript variant 3, mRNA.	531					lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GGCCTGTGCAGGATCCTTGGC	0.622000														131			93		0	0	0.014410	0	0
SLIT2	9353	broad.mit.edu	37	4	20550726	20550726	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:20550726G>A	uc003gpr.1	+	23	2668	c.2464G>A	c.(2464-2466)Gat>Aat	p.D822N	SLIT2_uc003gps.1_Missense_Mutation_p.D814N	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	822					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCGCACCTTTGATGGATTAAA	0.353000														10			7		0	0	0.004482	0	0
ADNP2	22850	broad.mit.edu	37	18	77895923	77895923	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr18:77895923C>T	uc002lnw.3	+	3	3082	c.2627C>T	c.(2626-2628)aCc>aTc	p.T876I		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	876					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CGAGTGTCCACCTGCCCCTTT	0.587000														28			32		0	0	0.012213	0	0
LCA5	167691	broad.mit.edu	37	6	80223375	80223375	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:80223375G>A	uc003piy.3	-	3	886	c.274C>T	c.(274-276)Cca>Tca	p.P92S	LCA5_uc003pix.3_Missense_Mutation_p.P92S|LCA5_uc011dyr.2_Missense_Mutation_p.P92S	NM_181714	NP_859065	Q86VQ0	LCA5_HUMAN	Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA.	92					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TTCCGAAGTGGCTCTCTATTG	0.453000														2			59		0	0	0.014410	0	0
TIFAB	497189	broad.mit.edu	37	5	134785516	134785516	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr5:134785516G>A	uc003law.4	-	1	315	c.114C>T	c.(112-114)ctC>ctT	p.L38L	C5orf20_uc003lav.3_5'Flank|TIFAB_uc021ydu.1_Silent_p.L38L	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	Homo sapiens TRAF-interacting protein with forkhead-associated domain, family member B (TIFAB), mRNA.	38	FHA.									breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCCCCGTCCGAGAAGCAGAG	0.662000														5			42		0	0	0.006230	0	0
KSR2	283455	broad.mit.edu	37	12	117922325	117922325	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:117922325G>A	uc001two.2	-	15	2314	c.2259C>T	c.(2257-2259)atC>atT	p.I753I		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	782	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTTGTGTAGGATTCCCTTGG	0.522000														2			17		0	0	0.008871	0	0
CASKIN2	57513	broad.mit.edu	37	17	73498951	73498951	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:73498951C>T	uc002joc.3	-	17	2754	c.2204G>A	c.(2203-2205)gGc>gAc	p.G735D	CASKIN2_uc010wsc.2_Missense_Mutation_p.G653D	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	735	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCGCTCTGTGCCCTCTGGGAG	0.657000														48			12		0	0	0.001855	0	0
COL5A2	1290	broad.mit.edu	37	2	189927614	189927614	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:189927614G>A	uc002uqk.3	-	28	2229	c.1954C>T	c.(1954-1956)Cct>Tct	p.P652S	COL5A2_uc010frx.3_Missense_Mutation_p.P228S	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	652					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGACCAGAAGGACCAACTTCA	0.383000														25			26		0	0	0.006320	0	0
DOCK8	81704	broad.mit.edu	37	9	328055	328055	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr9:328055G>A	uc003zgf.2	+	8	1040	c.928G>A	c.(928-930)Gac>Aac	p.D310N	DOCK8_uc011lls.1_Missense_Mutation_p.D310N|DOCK8_uc022bcu.1_Missense_Mutation_p.D242N|DOCK8_uc010mgv.3_Missense_Mutation_p.D242N|DOCK8_uc010mgu.3_5'UTR|DOCK8_uc003zgg.3_Missense_Mutation_p.D242N|DOCK8_uc022bct.1_Non-coding_Transcript	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	310					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCTGAACTCTGACCAGTTCAA	0.438000														2			31		0	0	0.003271	0	0
PCLO	27445	broad.mit.edu	37	7	82584948	82584948	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:82584948G>A	uc003uhx.2	-	4	5610	c.5321C>T	c.(5320-5322)tCa>tTa	p.S1774L	PCLO_uc003uhv.2_Missense_Mutation_p.S1774L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1705					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S1774L(3)|p.S1705L(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						TTCTTCCTCTGAAGAATCTTC	0.413000														40			30		0	0	0.008361	0	0
MMRN2	79812	broad.mit.edu	37	10	88702722	88702722	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:88702722C>T	uc001kea.3	-	5	1946	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K	MMRN2_uc010qmn.2_Missense_Mutation_p.E250K|MMRN2_uc009xtb.2_Missense_Mutation_p.E564K	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	607						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						AGCACCGCCTCGTGCCGCAGC	0.746000														7			5		0	0	0.001168	0	0
CYP4F22	126410	broad.mit.edu	37	19	15651519	15651519	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:15651519C>T	uc002nbh.4	+	7	1097	c.930C>T	c.(928-930)ctC>ctT	p.L310L		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	310						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						ATGTGCTGCTCCTGGCCAGGG	0.587000														13			19		0	0	0.010504	0	0
PHACTR2	9749	broad.mit.edu	37	6	144095234	144095234	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:144095234G>T	uc010khi.3	+	7	1670	c.1471G>T	c.(1471-1473)Gct>Tct	p.A491S	PHACTR2_uc003qjq.4_Missense_Mutation_p.A480S|PHACTR2_uc010khh.3_Missense_Mutation_p.A400S|PHACTR2_uc003qjr.4_Missense_Mutation_p.A411S	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	480							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		GGATACTCTTGCTATCAAACT	0.443000														3			20		1.15919e-05	2.3402e-05	0.008871	1	0
ZNF670	93474	broad.mit.edu	37	1	247201179	247201179	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:247201179T>A	uc001icd.2	-	3	959	c.742A>T	c.(742-744)Act>Tct	p.T248S	ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF670_uc021plz.1_Missense_Mutation_p.T247S	NM_033213	NP_149990	Q9BS34	ZN670_HUMAN	Homo sapiens zinc finger protein 670 (ZNF670), transcript variant 1, mRNA.	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			TTCTCTCCAGTATGAGATCTT	0.398000														2			44		0	0	0.010771	0	0
CXorf1	9142	broad.mit.edu	37	X	144909531	144909531	+	Nonstop_Mutation	SNP	A	G	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:144909531A>G	uc004fch.3	+	0	604	c.336A>G	c.(334-336)tgA>tgG	p.*112W		NM_004709	NP_004700	O96002	CX001_HUMAN	Homo sapiens chromosome X open reading frame 1 (CXorf1), mRNA.	0										central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)	8	Acute lymphoblastic leukemia(192;6.56e-05)					CCTACAAATGACAAATGGTAA	0.403000														8			16		0	0	0.006122	0	0
OR7D2	162998	broad.mit.edu	37	19	9296981	9296981	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:9296981C>T	uc002mkz.1	+	0	712	c.524C>T	c.(523-525)cCa>cTa	p.P175L		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	175					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TTTGAAATTCCACATTTTTTC	0.458000														68			55		0	0	0.014410	0	0
LOC401127	401127	broad.mit.edu	37	4	39482339	39482339	+	RNA	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:39482339G>A	uc011byn.2	+	0		c.465G>A								Homo sapiens WD repeat domain 5 pseudogene (LOC401127), non-coding RNA.																		CATATGATGGGAAATTTGAGA	0.463000														31			26		0	0	0.003330	0	0
FAM55D	54827	broad.mit.edu	37	11	114442165	114442165	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:114442165C>T	uc001ppc.3	-	5	1311	c.1130G>A	c.(1129-1131)gGa>gAa	p.G377E	FAM55D_uc001ppd.3_Missense_Mutation_p.G93E	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	377						extracellular region		p.S376F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		TTGCAATTTTCCAGATTCATG	0.378000														4			26		0	0	0.006320	0	0
IQSEC3	440073	broad.mit.edu	37	12	248380	248380	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:248380C>T	uc001qhw.2	+	3	1851	c.1851C>T	c.(1849-1851)gcC>gcT	p.A617A	IQSEC3_uc001qhu.1_Silent_p.A314A|LOC574538_uc001qhv.1_Intron	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	617					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CGGCCTCCGCCTCCAAGGACG	0.692000														5			4		0	0	0.009096	0	0
MRPL18	29074	broad.mit.edu	37	6	160212105	160212105	+	Silent	SNP	C	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:160212105C>A	uc003qsw.4	+	1	314	c.186C>A	c.(184-186)gcC>gcA	p.A62A	TCP1_uc003qss.3_5'Flank|TCP1_uc003qsr.3_5'Flank|TCP1_uc010kka.1_5'Flank|MRPL18_uc010kkb.3_Non-coding_Transcript	NM_014161	NP_054880	Q9H0U6	RM18_HUMAN	Homo sapiens mitochondrial ribosomal protein L18 (MRPL18), nuclear gene encoding mitochondrial protein, mRNA.	62					rRNA transport|translation	mitochondrial ribosome	5S rRNA binding|structural constituent of ribosome			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	11		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)		TATCTGTAGCCAGGAAAGAGC	0.557000														0			32		1.26612e-14	2.58857e-14	0.003271	1	0
PRAMEF10	343071	broad.mit.edu	37	1	12955399	12955399	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:12955399G>A	uc001auo.3	-	1	353	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.	94								p.V93A(1)		NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACCTGGGGCGAACCTTCTGG	0.607000														17			15		0	0	0.006122	0	0
ATXN7L3	56970	broad.mit.edu	37	17	42272039	42272039	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:42272039G>A	uc002iga.3	-	10	832	c.741C>T	c.(739-741)gtC>gtT	p.V247V	ATXN7L3_uc010wiv.2_Silent_p.V29V|ATXN7L3_uc002ifz.3_Silent_p.V254V	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN	Homo sapiens ataxin 7-like 3 (ATXN7L3), transcript variant 2, mRNA.	247	SCA7.				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCTCTGGAAGGACACTGGAAA	0.567000														33			22		0	0	0.002780	0	0
TTN	7273	broad.mit.edu	37	2	179465767	179465767	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:179465767C>T	uc021vsy.1	-	236	48385	c.48160G>A	c.(48160-48162)Gac>Aac	p.D16054N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D9749N|TTN_uc021vta.1_Missense_Mutation_p.D9682N|TTN_uc021vtb.1_Missense_Mutation_p.D9557N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16981	Ig-like 99.						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)			CCAGTAGGGTCCCATGCAAGG	0.493000														11			20		0	0	0.008871	0	0
SCN11A	11280	broad.mit.edu	37	3	38936144	38936144	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:38936144C>T	uc021wvy.1	-	14	2914	c.2715G>A	c.(2713-2715)aaG>aaA	p.K905K	SCN11A_uc010hhn.1_Silent_p.K21K	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	905					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CGCCCAGGGTCTTTGGTACAG	0.512000														77			28		0	0	0.006320	0	0
PRRG3	79057	broad.mit.edu	37	X	150869307	150869307	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:150869307G>A	uc022cgt.1	+	3	547	c.498G>A	c.(496-498)agG>agA	p.R166R	PRRG3_uc004few.2_Silent_p.R166R	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	166						extracellular region|integral to membrane	calcium ion binding	p.R166fs*14(1)		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)					GGGGGGGCAGGACCACAGTCC	0.667000														16			21		0	0	0.008871	0	0
CSMD3	114788	broad.mit.edu	37	8	113299419	113299419	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr8:113299419C>T	uc003ynu.3	-	57	9364	c.9205G>A	c.(9205-9207)Gaa>Aaa	p.E3069K	CSMD3_uc003yns.3_Missense_Mutation_p.E2271K|CSMD3_uc003ynt.3_Missense_Mutation_p.E3029K|CSMD3_uc011lhx.2_Missense_Mutation_p.E2900K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3069	Sushi 22.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAATTGCTTTCCTGTCTAGAG	0.433000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				8			8		0	0	0.004482	0	0
OR6B3	150681	broad.mit.edu	37	2	240984587	240984587	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:240984587C>T	uc010zoe.2	-	0	903	c.903G>A	c.(901-903)ttG>ttA	p.L301L	PRR21_uc010zod.2_5'Flank	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 3 (OR6B3), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		AGGCTTTTTTCAAGGCATTCT	0.488000														115			111		0	0	0.014410	0	0
OR13H1	347468	broad.mit.edu	37	X	130678968	130678968	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:130678968G>A	uc011muw.2	+	0	921	c.921G>A	c.(919-921)agG>agA	p.R307R	IGSF1_uc004ewf.2_Intron	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily H, member 1 (OR13H1), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TGTTGAAAAGGACATGAGCCT	0.378000														18			16		0	0	0.003163	0	0
ANKS1B	56899	broad.mit.edu	37	12	99837501	99837501	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:99837501G>A	uc001tge.2	-	10	1942	c.1525C>T	c.(1525-1527)Cca>Tca	p.P509S	ANKS1B_uc001tgf.2_Missense_Mutation_p.P89S|ANKS1B_uc009ztt.1_Missense_Mutation_p.P475S	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	509						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TCAGGGGATGGAGGTGAACAA	0.418000														2			5		0	0	0.001168	0	0
TLL1	7092	broad.mit.edu	37	4	166978447	166978447	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:166978447G>A	uc003irh.2	+	13	2479	c.1832G>A	c.(1831-1833)aGa>aAa	p.R611K	TLL1_uc011cjn.2_Missense_Mutation_p.R634K|TLL1_uc011cjo.2_Missense_Mutation_p.R435K	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	611	EGF-like 1; calcium-binding (Potential).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GGCCCAGACAGAAGGAGCTGT	0.517000														7			6		0	0	0.001168	0	0
KLF4	9314	broad.mit.edu	37	9	110248119	110248119	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr9:110248119C>T	uc004bdh.3	-	3	2049	c.1428G>A	c.(1426-1428)acG>acA	p.T476T	KLF4_uc004bdf.2_Silent_p.T401T|KLF4_uc022blk.1_Silent_p.T117T|KLF4_uc004bdg.3_Silent_p.T451T	NM_004235	NP_004226	O43474	KLF4_HUMAN	Homo sapiens Kruppel-like factor 4 (gut) (KLF4), mRNA.	485	Interaction with target DNA (By similarity).				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GGCGGTGCCCCGTGTGTTTAC	0.527000														1			45		0	0	0.009718	0	0
ZNF676	163223	broad.mit.edu	37	19	22363802	22363802	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:22363802G>A	uc002nqs.1	-	2	1035	c.717C>T	c.(715-717)atC>atT	p.I239I		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GTTTAGTAAGGATTGAGGATC	0.353000														22			6		0	0	0.001168	0	0
ATCAY	85300	broad.mit.edu	37	19	3907814	3907814	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:3907814C>T	uc010xhz.2	+	5	942	c.459C>T	c.(457-459)agC>agT	p.S153S	ATCAY_uc002lyy.4_Silent_p.S147S|ATCAY_uc010dts.3_5'Flank			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	147					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		AGGACGGCAGCGCCGCCAACG	0.642000														38			22		0	0	0.003330	0	0
DLC1	10395	broad.mit.edu	37	8	12957006	12957006	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr8:12957006G>A	uc003wwm.2	-	8	3284	c.2840C>T	c.(2839-2841)cCa>cTa	p.P947L	DLC1_uc003wwk.1_Missense_Mutation_p.P510L|DLC1_uc003wwl.1_Missense_Mutation_p.P544L|DLC1_uc011kxx.1_Missense_Mutation_p.P436L	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	947					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						TATCTGTTTTGGAGAGGACGG	0.567000														43			27		0	0	0.008361	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79080631	79080631	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr15:79080631C>T	uc002bej.4	-	7	1475	c.1264G>A	c.(1264-1266)Gac>Aac	p.D422N	ADAMTS7_uc010und.1_Silent_p.T396T|ADAMTS7_uc002bek.1_Missense_Mutation_p.D422N	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	422	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGAGCGGCGTCGTACAGGAGC	0.572000														76			52		0	0	0.014410	0	0
MMP1	4312	broad.mit.edu	37	11	102668118	102668118	+	Silent	SNP	C	G	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:102668118C>G	uc001phi.2	-	1	362	c.219G>C	c.(217-219)ctG>ctC	p.L73L	LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Silent_p.L7L	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	73					blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		CAGTCACTTTCAGCCCAAAGA	0.478000														21			41		0	0	0.013114	0	0
OR52A5	390054	broad.mit.edu	37	11	5153059	5153059	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:5153059G>A	uc010qyx.2	-	0	814	c.814C>T	c.(814-816)Cca>Tca	p.P272S		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATATATGGTGGTATGTGTGAA	0.413000														17			17		0	0	0.006122	0	0
TMEM225	338661	broad.mit.edu	37	11	123754837	123754837	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:123754837C>T	uc001pzi.3	-	2	616	c.408G>A	c.(406-408)agG>agA	p.R136R		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	Homo sapiens transmembrane protein 225 (TMEM225), mRNA.	136						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TCCAGGTGATCCTATAATTAG	0.418000														1			4		0	0	0.009096	0	0
F8	2157	broad.mit.edu	37	X	154185319	154185319	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:154185319G>A	uc004fmt.3	-	10	1836	c.1665C>T	c.(1663-1665)ttC>ttT	p.F555F		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	555	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCATATTAACGAAACTAGAGT	0.438000														54			54		0	0	0.014410	0	0
RBFA	79863	broad.mit.edu	37	18	77797460	77797460	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr18:77797460C>T	uc002lns.3	+	2	482	c.332C>T	c.(331-333)cCt>cTt	p.P111L	RBFA_uc010drh.3_Missense_Mutation_p.P111L|RBFA_uc010dri.2_Intron	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN	Homo sapiens ribosome binding factor A (putative) (RBFA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	111					rRNA processing	mitochondrion				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						CTGTGTACCCCTGAAGTGAGT	0.547000														73			35		0	0	0.005524	0	0
HCRTR2	3062	broad.mit.edu	37	6	55147094	55147094	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:55147094C>T	uc003pcl.3	+	6	1492	c.1177C>T	c.(1177-1179)Cgg>Tgg	p.R393W	HCRTR2_uc010jzv.3_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	393					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.R393R(2)|p.D392Y(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCAGGAGGATCGGCTCACCAG	0.458000														10			9		0	0	0.008291	0	0
PCLO	27445	broad.mit.edu	37	7	82583350	82583350	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:82583350C>T	uc003uhx.2	-	4	7208	c.6919G>A	c.(6919-6921)Gaa>Aaa	p.E2307K	PCLO_uc003uhv.2_Missense_Mutation_p.E2307K|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2238	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCCCAGTTTCCTTCTTGGCT	0.418000														72			55		0	0	0.014410	0	0
TBX3	6926	broad.mit.edu	37	12	115117741	115117741	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:115117741C>T	uc001tvt.1	-	2	1658	c.694G>A	c.(694-696)Ggg>Agg	p.G232R	TBX3_uc001tvu.1_Intron	NM_016569	NP_057653	O15119	TBX3_HUMAN	Homo sapiens T-box 3 (TBX3), transcript variant 2, mRNA.	232					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CTATAATTCCCCTGCCACGTA	0.443000														0			14		0	0	0.004007	0	0
CLEC18B	497190	broad.mit.edu	37	16	74446934	74446934	+	Splice_Site	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr16:74446934C>T	uc002fct.3	-	5	876	c.676_splice	c.e5+1	p.E226_splice	CLEC18B_uc002fcu.3_Splice_Site_p.E226_splice|CLEC18B_uc010vmu.1_Splice_Site_p.E146_splice|CLEC18B_uc010vmv.1_5'Flank	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN	Homo sapiens C-type lectin domain family 18, member B (CLEC18B), mRNA.	226						extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CATGCACTCACCACAGAGCCC	0.607000														3			26		0	0	0.008361	0	0
FAM40A	85369	broad.mit.edu	37	1	110584359	110584359	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:110584359C>T	uc001dza.1	+	7	780	c.761C>T	c.(760-762)tCc>tTc	p.S254F	FAM40A_uc001dyz.1_Missense_Mutation_p.S159F|FAM40A_uc009wfp.1_Missense_Mutation_p.S78F	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	Homo sapiens family with sequence similarity 40, member A (FAM40A), mRNA.	254						nucleus	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)	23		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)		CCTCCAGGCTCCCCGCTGTAC	0.552000														62			83		0	0	0.014410	0	0
MYH8	4626	broad.mit.edu	37	17	10310224	10310224	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:10310224C>T	uc002gmm.2	-	17	2133	c.2038G>A	c.(2038-2040)Gaa>Aaa	p.E680K	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	680	Actin-binding.|Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GTTTTGGTTTCATTGGGAATG	0.378000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					22			22		0	0	0.007291	0	0
CFHR1	3078	broad.mit.edu	37	1	196762545	196762545	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:196762545G>A	uc001gtl.3	+	5	982	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	CFH_uc021pgt.1_Intron|CFHR1_uc010poy.2_Missense_Mutation_p.E238K|CFHR1_uc001gtm.3_Intron	NM_021023	NP_066303	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA.	297	Sushi 5.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GGATACCATTGAATTTATGTG	0.323000														17			29		0	0	0.008361	0	0
GLYR1	84656	broad.mit.edu	37	16	4872902	4872902	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr16:4872902G>A	uc002cxx.4	-	6	692	c.655C>T	c.(655-657)Cat>Tat	p.H219Y	GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Missense_Mutation_p.H150Y|GLYR1_uc002cya.2_Missense_Mutation_p.H219Y|GLYR1_uc010uxv.1_Missense_Mutation_p.H138Y	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA.	219					pentose-phosphate shunt	nucleus	DNA binding|coenzyme binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						AGCAGGAAATGATGGAAATGA	0.502000														76			52		0	0	0.014410	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589843	140589843	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr5:140589843C>T	uc003liz.3	+	0	1553	c.1364C>T	c.(1363-1365)tCc>tTc	p.S455F	PCDHB12_uc011dak.2_Missense_Mutation_p.S118F	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	455					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)			ACCCAAACTTCCTACGCCCTG	0.612000														4			45		0	0	0.013114	0	0
PKD1	5310	broad.mit.edu	37	16	2140375	2140376	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr16:2140375_2140376GG>AA	uc002cos.1	-	44	12563_12564	c.12354_12355CC>TT	c.(12352-12357)taccgg>taTTgg	p.R4119W	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.R4118W|MIR1225_uc021tap.1_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	4119					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAGGCCGGCCGGTACAGCTCTC	0.673000														35			25		0	0	0.004672	0	0
LRRC4	64101	broad.mit.edu	37	7	127670227	127670227	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:127670227T>C	uc003vmk.3	-	1	604	c.467A>G	c.(466-468)aAc>aGc	p.N156S	SND1_uc003vmi.3_Intron|SND1_uc010lle.3_Intron|LRRC4_uc022akv.1_Missense_Mutation_p.N156S	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	Homo sapiens leucine rich repeat containing 4 (LRRC4), mRNA.	156						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GATGGGGTTGTTGCGAAGCCA	0.587000														72			35		0	0	0.004289	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86536995	86536995	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:86536995G>A	uc011kha.2	-	17	2734	c.2549C>T	c.(2548-2550)tCa>tTa	p.S850L	KIAA1324L_uc003uie.3_Missense_Mutation_p.S683L|KIAA1324L_uc011kgz.2_Missense_Mutation_p.S736L|KIAA1324L_uc003uif.2_Missense_Mutation_p.S602L	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	850						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCTGGGGACTGAAATCACTCC	0.358000														18			8		0	0	0.006214	0	0
SYTL4	94121	broad.mit.edu	37	X	99936257	99936257	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:99936257A>G	uc004egd.4	-	15	1881	c.1525T>C	c.(1525-1527)Tcc>Ccc	p.S509P	SYTL4_uc004egc.3_5'Flank|SYTL4_uc010nnb.3_Missense_Mutation_p.S181P|SYTL4_uc010nnc.3_Missense_Mutation_p.S509P|SYTL4_uc004ege.4_Missense_Mutation_p.S509P|SYTL4_uc004egf.4_Missense_Mutation_p.S509P	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	509					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGGGTTTTGGAGGCTGGGATG	0.512000														48			27		0	0	0.009535	0	0
PSG4	5672	broad.mit.edu	37	19	43411108	43411108	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:43411108C>T	uc002ovj.1	-	4	1305	c.1206G>A	c.(1204-1206)aaG>aaA	p.K402K	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Silent_p.K242K|PSG4_uc002ovg.1_Silent_p.K402K	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	403	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TGGAGATTTCCTTGCCAGTGG	0.448000														125			77		0	0	0.014410	0	0
DZIP1	22873	broad.mit.edu	37	13	96242060	96242060	+	Missense_Mutation	SNP	G	A	A	rs139553238		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr13:96242060G>A	uc001vmk.3	-	17	2822	c.1970C>T	c.(1969-1971)cCa>cTa	p.P657L	DZIP1_uc001vmj.3_Missense_Mutation_p.P133L|DZIP1_uc001vml.3_Missense_Mutation_p.P638L	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	657					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TACTCACTTTGGAACAGATGT	0.378000														40			50		0	0	0.014410	0	0
KCNH5	27133	broad.mit.edu	37	14	63447647	63447647	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr14:63447647G>A	uc001xfx.3	-	5	936	c.885C>T	c.(883-885)atC>atT	p.I295I	KCNH5_uc001xfy.3_Silent_p.I295I|KCNH5_uc001xfz.1_Silent_p.I237I|KCNH5_uc001xga.3_Silent_p.I237I	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	295					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACAGCAGATCGATCACAAACC	0.403000														2			14		0	0	0.002450	0	0
IQSEC2	23096	broad.mit.edu	37	X	53280174	53280174	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:53280174G>A	uc004dsd.3	-	4	1785	c.1584C>T	c.(1582-1584)tcC>tcT	p.S528S	IQSEC2_uc004dsc.3_Silent_p.S323S|IQSEC2_uc022bxf.1_Silent_p.S291S	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	Homo sapiens IQ motif and Sec7 domain 2 (IQSEC2), transcript variant 1, mRNA.	518	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GTCGCTCAGGGGATTGTTGGG	0.617000														6			80		0	0	0.014410	0	0
SEMA6D	80031	broad.mit.edu	37	15	48058107	48058107	+	Nonsense_Mutation	SNP	T	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr15:48058107T>A	uc010bek.3	+	13	1829	c.1469T>A	c.(1468-1470)tTa>tAa	p.L490*	SEMA6D_uc001zvw.3_Nonsense_Mutation_p.L490*|SEMA6D_uc001zvy.3_Nonsense_Mutation_p.L490*|SEMA6D_uc001zvz.3_Nonsense_Mutation_p.L490*|SEMA6D_uc001zwa.3_Nonsense_Mutation_p.L490*|SEMA6D_uc001zwb.3_Nonsense_Mutation_p.L490*|SEMA6D_uc001zwc.3_Nonsense_Mutation_p.L490*	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	490	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GTCATCTCATTACAGTTGGAT	0.423000														23			12		0	0	0.010729	0	0
HORMAD2	150280	broad.mit.edu	37	22	30515015	30515015	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr22:30515015G>A	uc003agy.3	+	7	454	c.389G>A	c.(388-390)gGa>gAa	p.G130E		NM_152510	NP_689723	Q8N7B1	HORM2_HUMAN	Homo sapiens HORMA domain containing 2 (HORMAD2), mRNA.	130	HORMA.				meiosis|mitosis	chromosome|nucleus				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			ACGAAAGAAGGAGCCACTATG	0.343000														0			4		0	0	0.001168	0	0
XIRP2	129446	broad.mit.edu	37	2	168101437	168101437	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:168101437G>A	uc002udx.3	+	8	3624	c.3535G>A	c.(3535-3537)Gga>Aga	p.G1179R	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.G1004R|XIRP2_uc010fpq.3_Missense_Mutation_p.G957R|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1004					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGCATACAAGGAGAAGAAGT	0.383000														11			8		0	0	0.003080	0	0
NUFIP2	57532	broad.mit.edu	37	17	27613814	27613815	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:27613814_27613815GG>AA	uc002hdy.4	-	1	1286_1287	c.1197_1198CC>TT	c.(1195-1200)tcccag>tcTTag	p.Q400*	NUFIP2_uc002hdx.4_Intron	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 2 (NUFIP2), mRNA.	400	Ser-rich.					nucleus|polysomal ribosome	RNA binding|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			ATAGGGACCTGGGATAAGCGAC	0.446000														50			36		0	0	0.004672	0	0
SCRN2	90507	broad.mit.edu	37	17	45916883	45916883	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:45916883G>A	uc002imd.3	-	3	609	c.483C>T	c.(481-483)ttC>ttT	p.F161F	SCRN2_uc002imf.3_Silent_p.F161F	NM_138355	NP_612364	Q96FV2	SCRN2_HUMAN	Homo sapiens secernin 2 (SCRN2), transcript variant 1, mRNA.	161					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CAGCCAGCAGGAAGGTGCTAT	0.612000														127			75		0	0	0.014410	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021113	142021113	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:142021113C>T	uc011krr.1	+	1	278	c.93C>T	c.(91-93)atC>atT	p.I31I	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krq.1_Silent_p.I31I					SubName: Full=V_segment translation product; Flags: Fragment;																		GATATCTGATCAAAACGAGAG	0.547000														16			11		0	0	0.008291	0	0
GBA3	57733	broad.mit.edu	37	4	22820513	22820513	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:22820513C>T	uc003gqp.4	+	5	1465	c.1374C>T	c.(1372-1374)atC>atT	p.I458I	GBA3_uc010iep.3_Silent_p.I151I|GBA3_uc011bxo.2_3'UTR	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	459					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AAGCCAAGATCATCCGAAACA	0.493000														7			9		0	0	0.006214	0	0
CEACAM4	1089	broad.mit.edu	37	19	42133303	42133304	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:42133303_42133304CC>TT	uc010xwd.1	-	0	139_140	c.28_29GG>AA	c.(28-30)gga>AAa	p.G10K	CEACAM4_uc002orh.1_Missense_Mutation_p.G10K	NM_001817	NP_001808	O75871	CEAM4_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 4 (CEACAM4), mRNA.	10						integral to plasma membrane|membrane fraction		p.G10R(2)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCTGTGCCCTCCACGGGGAGCG	0.649000														20			9		0	0	0.004672	0	0
SPATA18	132671	broad.mit.edu	37	4	52948629	52948629	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:52948629G>A	uc003gzl.3	+	9	1710	c.1432G>A	c.(1432-1434)Gac>Aac	p.D478N	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.D446N|SPATA18_uc003gzk.1_Missense_Mutation_p.D478N	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	478					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CATGGAGAATGACTGTGTCAT	0.463000														31			39		0	0	0.004878	0	0
HTR3A	3359	broad.mit.edu	37	11	113856811	113856811	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:113856811G>A	uc010rxb.2	+	5	870	c.637G>A	c.(637-639)Gga>Aga	p.G213R	HTR3A_uc010rxa.2_Missense_Mutation_p.G213R|HTR3A_uc009yyx.3_Intron|HTR3A_uc010rxc.2_Missense_Mutation_p.G192R	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	207					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CATGAACCAGGGAGAGTGGGA	0.493000														17			111		0	0	0.014410	0	0
GRIA2	2891	broad.mit.edu	37	4	158254129	158254129	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:158254129C>T	uc003ipm.4	+	6	1500	c.1041C>T	c.(1039-1041)gcC>gcT	p.A347A	GRIA2_uc011cit.2_Silent_p.A300A|GRIA2_uc003ipl.4_Silent_p.A347A|GRIA2_uc003ipk.4_Silent_p.A300A|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	347					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TAGAAAGGGCCCTCAAACAGG	0.428000														2			5		0	0	0.001168	0	0
TRIM28	10155	broad.mit.edu	37	19	59057158	59057159	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:59057158_59057159CC>TT	uc002qtg.1	+	2	770_771	c.481_482CC>TT	c.(481-483)cca>TTa	p.P161L	TRIM28_uc010eut.1_Intron|TRIM28_uc002qth.1_5'Flank	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	Homo sapiens tripartite motif containing 28 (TRIM28), mRNA.	161	RBCC domain.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GGATAATGCCCCAGCCACCAGC	0.535000														30			38		0	0	0.004672	0	0
GLCE	26035	broad.mit.edu	37	15	69548401	69548401	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr15:69548401C>T	uc002ary.1	+	2	484	c.256C>T	c.(256-258)Cct>Tct	p.P86S		NM_015554	NP_056369	O94923	GLCE_HUMAN	Homo sapiens glucuronic acid epimerase (GLCE), mRNA.	86					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						GAAAGCACCCCCTGTTGTTGG	0.433000														20			12		0	0	0.013537	0	0
BCL11A	53335	broad.mit.edu	37	2	60695964	60695964	+	Silent	SNP	T	C	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:60695964T>C	uc002sae.1	-	2	618	c.390A>G	c.(388-390)aaA>aaG	p.K130K	BCL11A_uc002sab.3_Silent_p.K130K|BCL11A_uc002sac.3_Silent_p.K130K|BCL11A_uc010ypi.2_5'UTR|BCL11A_uc010ypj.2_Intron|BCL11A_uc002sad.1_5'UTR|BCL11A_uc002saf.1_Intron	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	130	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AGTGCAGAAGTTTATCTGTGA	0.453000			T	IGH@	B-CLL									260			316		0	0	0.014410	0	0
KIRREL	55243	broad.mit.edu	37	1	158064897	158064897	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:158064897A>T	uc001frn.4	+	14	2665	c.2261A>T	c.(2260-2262)cAg>cTg	p.Q754L	KIRREL_uc010pib.2_Missense_Mutation_p.Q654L|KIRREL_uc009wsq.3_Missense_Mutation_p.Q590L|KIRREL_uc001fro.4_Missense_Mutation_p.Q568L|hCG_1995134_uc001frp.2_5'Flank	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	Homo sapiens kin of IRRE like (Drosophila) (KIRREL), mRNA.	754						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CAGCGCATGCAGACTCACGTG	0.587000														18			11		0	0	0.008291	0	0
ACSM1	116285	broad.mit.edu	37	16	20681188	20681188	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr16:20681188G>A	uc002dhm.1	-	4	941	c.873C>T	c.(871-873)atC>atT	p.I291I	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.I291I	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	291					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GCAGATGGTGGATAAAGACTG	0.478000														33			23		0	0	0.003954	0	0
FAT4	79633	broad.mit.edu	37	4	126329908	126329908	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:126329908G>A	uc003ifj.4	+	3	5879	c.5879G>A	c.(5878-5880)gGa>gAa	p.G1960E	FAT4_uc011cgp.2_Missense_Mutation_p.G258E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1960	Cadherin 19.				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						CTACCTGTGGGATCTACTGTT	0.284000														30			24		0	0	0.007291	0	0
BRWD3	254065	broad.mit.edu	37	X	79984278	79984278	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:79984278G>A	uc004edt.3	-	13	1622	c.1359C>T	c.(1357-1359)atC>atT	p.I453I	BRWD3_uc004edp.3_Silent_p.I282I|BRWD3_uc004edq.3_Silent_p.I49I|BRWD3_uc010nmj.2_Silent_p.I49I|BRWD3_uc004edr.3_Silent_p.I123I|BRWD3_uc004eds.3_Silent_p.I49I|BRWD3_uc004edo.3_Silent_p.I49I|BRWD3_uc004edu.3_Silent_p.I123I|BRWD3_uc004edv.3_Silent_p.I49I|BRWD3_uc004edw.3_Silent_p.I49I|BRWD3_uc004edx.3_Silent_p.I49I|BRWD3_uc004edy.3_Silent_p.I49I|BRWD3_uc004edz.3_Silent_p.I123I|BRWD3_uc004eea.3_Silent_p.I123I|BRWD3_uc004eeb.3_Silent_p.I49I	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	453										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GCTGTCCTGTGATAGAATTCC	0.323000														15			15		0	0	0.002450	0	0
ARHGDIB	397	broad.mit.edu	37	12	15097773	15097773	+	Splice_Site	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:15097773C>T	uc001rcq.1	-	5	447	c.343_splice	c.e5-1	p.V115_splice		NM_001175	NP_001166	P52566	GDIR2_HUMAN	Homo sapiens Rho GDP dissociation inhibitor (GDI) beta (ARHGDIB), mRNA.	115					Rho protein signal transduction|actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						TCCCTGTTCACCTGCAGGTGG	0.473000														50			32		0	0	0.012213	0	0
NLGN3	54413	broad.mit.edu	37	X	70386992	70386992	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:70386992G>A	uc004dzd.2	+	6	1379	c.1045G>A	c.(1045-1047)Gtg>Atg	p.V349M	NLGN3_uc004dzb.3_Missense_Mutation_p.V329M|NLGN3_uc011mps.2_Missense_Mutation_p.V309M|NLGN3_uc004dzc.3_Missense_Mutation_p.V212M|NLGN3_uc004dze.3_Missense_Mutation_p.V147M	NM_181303	NP_851820	Q9NZ94	NLGN3_HUMAN	Homo sapiens neuroligin 3 (NLGN3), transcript variant 1, mRNA.	349					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CGTGGATATGGTGGACTGTCT	0.562000														31			45		0	0	0.014410	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735637	55735637	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:55735637C>T	uc010rit.2	-	0	303	c.303G>A	c.(301-303)acG>acA	p.T101T		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GGAGACACTCCGTGCCTCCAA	0.428000														42			21		0	0	0.012319	0	0
LOC649330	649330	broad.mit.edu	37	1	12907865	12907865	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:12907865C>T	uc010obf.2	-	1	504	c.278G>A	c.(277-279)gGa>gAa	p.G93E	LOC649330_uc009vno.2_Missense_Mutation_p.G93E	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	93							nucleic acid binding|nucleotide binding										ACCTGCGTTTCCTCGGTTCAC	0.483000														103			23		0	0	0.014323	0	0
C1orf168	199920	broad.mit.edu	37	1	57258413	57258413	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:57258413G>A	uc001cym.4	-	1	479	c.73C>T	c.(73-75)Cca>Tca	p.P25S	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Missense_Mutation_p.P25S	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	25										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						ATAGGTCCTGGAAGAGGTGGA	0.418000														65			64		0	0	0.014410	0	0
SCN10A	6336	broad.mit.edu	37	3	38770242	38770242	+	Missense_Mutation	SNP	C	T	T	rs77049337		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:38770242C>T	uc003ciq.3	-	14	2431	c.2431G>A	c.(2431-2433)Gaa>Aaa	p.E811K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	811					sensory perception	voltage-gated sodium channel complex		p.E811K(2)|p.G810V(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CGGTAGTTTTCCCCTAGGAGC	0.527000														86			27		0	0	0.006320	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67314183	67314183	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr16:67314183C>T	uc010cef.3	+	1	535	c.236C>T	c.(235-237)tCg>tTg	p.S79L	PLEKHG4_uc002eso.4_Missense_Mutation_p.S79L|PLEKHG4_uc002esp.4_5'UTR|PLEKHG4_uc002esq.4_Missense_Mutation_p.S79L|PLEKHG4_uc002esr.1_Intron|PLEKHG4_uc002ess.4_Missense_Mutation_p.S79L|PLEKHG4_uc010ceg.3_Missense_Mutation_p.S79L	NM_001129728	NP_056247	Q58EX7	PKHG4_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 3, mRNA.	79					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GCAGATGAGTCGGGGGATGCC	0.627000														1			22		0	0	0.003330	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449843	105449843	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:105449843G>A	uc022cca.1	+	0	418	c.418G>A	c.(418-420)Gac>Aac	p.D140N	MUM1L1_uc004emg.2_Missense_Mutation_p.D140N|MUM1L1_uc004emf.2_Missense_Mutation_p.D140N	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	140										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGATGAAGGTGACTTACCAGG	0.433000														9			15		0	0	0.007413	0	0
ITGB1BP2	26548	broad.mit.edu	37	X	70523548	70523548	+	Splice_Site	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:70523548G>A	uc004dzr.1	+	7	568	c.539_splice	c.e7+1	p.G180_splice	BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_Splice_Site_p.G162_splice	NM_012278	NP_036410	Q9UKP3	ITBP2_HUMAN	Homo sapiens integrin beta 1 binding protein (melusin) 2 (ITGB1BP2), mRNA.	180	CHORD 2.|Cys-rich.				muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					TCCATGAGGGGTGAGGGAGGG	0.473000														38			27		0	0	0.005443	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118268	118268	+	RNA	SNP	G	C	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrGL000205.1:118268G>C	uc002kgk.4	+	0		c.1646G>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AAACCAGCAAGAAATTCATCC	0.512000														10			3		0	0	0.009096	0	0
OR51S1	119692	broad.mit.edu	37	11	4869969	4869969	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:4869969G>A	uc010qyo.2	-	0	470	c.470C>T	c.(469-471)tCt>tTt	p.S157F		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S157F(2)|p.I156V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCATCGAAAAGAAATGGCCAG	0.552000														66			41		0	0	0.008740	0	0
ZEB2	9839	broad.mit.edu	37	2	145147503	145147503	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:145147503G>A	uc002tvu.3	-	9	3682	c.3160C>T	c.(3160-3162)Ccc>Tcc	p.P1054S	ZEB2_uc010zbm.2_Missense_Mutation_p.P1030S|ZEB2_uc002tvv.3_Missense_Mutation_p.P1048S|ZEB2_uc010fnp.3_Intron	NM_014795	NP_055610	O60315	ZEB2_HUMAN	Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA.	1054						cytoplasm|nucleolus	SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CACTGATAGGGCTTCTCGCCC	0.507000														45			32		0	0	0.003271	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37735068	37735068	+	Splice_Site	SNP	A	C	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr8:37735068A>C	uc003xkm.2	-	2	428	c.372_splice	c.e2-1	p.Q124_splice	RAB11FIP1_uc003xkn.2_Splice_Site_p.Q124_splice|RAB11FIP1_uc003xkp.1_5'UTR	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	124					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AACTTATACCACCTGAAAGGA	0.458000														37			18		0	0	0.006122	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15884920	15884920	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:15884920G>A	uc010xor.1	-	1	162	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L	CYP4F24P_uc002nbo.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA.									p.L48M(2)									TAGGGTTTCAGGATGTTGAAA	0.547000														9			7		0	0	0.003080	0	0
CCDC88B	283234	broad.mit.edu	37	11	64111547	64111547	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:64111547G>A	uc001nzy.3	+	13	1583	c.1534G>A	c.(1534-1536)Gac>Aac	p.D512N	CCDC88B_uc009ypo.2_Missense_Mutation_p.D509N|CCDC88B_uc001nzz.1_Missense_Mutation_p.D161N	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	512					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGTGGCCTTCGACCACAGCCC	0.637000														57			39		0	0	0.006999	0	0
ZZEF1	23140	broad.mit.edu	37	17	4015961	4015961	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:4015961G>A	uc002fxe.3	-	4	1072	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	ZZEF1_uc002fxk.1_Silent_p.I336I	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	336	DOC.						calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CATTGCTGGGGATGTGCACAT	0.537000														30			16		0	0	0.004007	0	0
CEP44	80817	broad.mit.edu	37	4	175229985	175229985	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:175229985T>C	uc010iro.2	+	6	958	c.653T>C	c.(652-654)gTt>gCt	p.V218A	CEP44_uc003its.2_Non-coding_Transcript|CEP44_uc003itr.3_Missense_Mutation_p.V218A	NM_001145314	NP_001138786	Q9C0F1	CEP44_HUMAN	Homo sapiens centrosomal protein 44kDa (CEP44), transcript variant 2, mRNA.	218						centrosome|midbody|spindle pole				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						GAAGTAAAGGTTCCTGAAATC	0.333000														15			9		0	0	0.010729	0	0
TRIO	7204	broad.mit.edu	37	5	14488227	14488227	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr5:14488227C>T	uc003jff.3	+	47	7496	c.7490C>T	c.(7489-7491)cCc>cTc	p.P2497L	TRIO_uc003jfg.3_Intron|TRIO_uc003jfh.1_Missense_Mutation_p.P2146L	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2497					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCCAGCCGACCCGGCTCCTTC	0.716000														12			5		0	0	0.000602	0	0
STAB1	23166	broad.mit.edu	37	3	52545723	52545723	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:52545723G>A	uc003dej.3	+	25	2919	c.2845G>A	c.(2845-2847)Gac>Aac	p.D949N		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	949	EGF-like 9.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CAGCCCCATCGACCCCTGCCG	0.637000														11			22		0	0	0.003954	0	0
KIAA1217	56243	broad.mit.edu	37	10	24669938	24669938	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:24669938G>A	uc001iru.4	+	2	898	c.495G>A	c.(493-495)cgG>cgA	p.R165R	KIAA1217_uc001irs.3_Silent_p.R85R|KIAA1217_uc001irt.4_Silent_p.R165R|KIAA1217_uc010qcy.2_Silent_p.R165R|KIAA1217_uc010qcz.2_Silent_p.R165R|KIAA1217_uc001irv.1_Silent_p.R15R|KIAA1217_uc010qda.1_Non-coding_Transcript	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	165					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						GAGGCAGCCGGACTCGTGCGA	0.532000														1			26		0	0	0.004656	0	0
MYOM2	9172	broad.mit.edu	37	8	2020445	2020446	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr8:2020445_2020446CC>TT	uc003wpx.4	+	8	952_953	c.814_815CC>TT	c.(814-816)ccg>TTg	p.P272L	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	272	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATCGATGATTCCGTACACGCAC	0.584000														29			26		0	0	0.004672	0	0
SLC9C1	285335	broad.mit.edu	37	3	111940000	111940000	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:111940000C>T	uc003dyu.3	-	13	1867	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	SLC9C1_uc011bhu.2_5'UTR|SLC9C1_uc010hqc.3_Missense_Mutation_p.E501K	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	549					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CCAAAACTTTCTGCTGCACCA	0.388000														1			8		0	0	0.006214	0	0
FCGBP	8857	broad.mit.edu	37	19	40368845	40368845	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:40368845G>A	uc002omp.4	-	27	12511	c.12503C>T	c.(12502-12504)tCc>tTc	p.S4168F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4168	VWFD 10.					extracellular region	protein binding	p.S4168S(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTCGGCCACGGAGACAGGCAA	0.622000														193			49		0	0	0.014410	0	0
CDH23	64072	broad.mit.edu	37	10	73326627	73326627	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:73326627C>T	uc001jrx.4	+	6	948	c.558C>T	c.(556-558)atC>atT	p.I186I	CDH23_uc001jrw.4_Silent_p.I186I|CDH23_uc001jry.3_Silent_p.I186I|CDH23_uc001jrz.3_Silent_p.I186I|CDH23_uc021psl.1_Silent_p.I186I|CDH23_uc001jrv.3_Silent_p.I181I|CDH23_uc009xql.3_Silent_p.I186I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	186	Cadherin 2.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCCGCGGTATCGTCACAGTGA	0.647000														24			20		0	0	0.010504	0	0
F8	2157	broad.mit.edu	37	X	154159039	154159039	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:154159039A>G	uc004fmt.3	-	13	3197	c.3026T>C	c.(3025-3027)tTa>tCa	p.L1009S		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1009	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AACTTTGAATAAGGCATTATC	0.348000														45			23		0	0	0.003954	0	0
CBX4	8535	broad.mit.edu	37	17	77811688	77811688	+	Nonsense_Mutation	SNP	C	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:77811688C>A	uc002jxe.3	-	2	290	c.127G>T	c.(127-129)Gaa>Taa	p.E43*		NM_003655	NP_003646	O00257	CBX4_HUMAN	Homo sapiens chromobox homolog 4 (CBX4), mRNA.	43	Chromo.|Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCCTCCGGTTCCCACGTGTTA	0.567000														7			10		4.68919e-08	9.54656e-08	0.008291	1	0
TTN	7273	broad.mit.edu	37	2	179640316	179640316	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:179640316C>T	uc021vsy.1	-	27	6500	c.6275G>A	c.(6274-6276)gGa>gAa	p.G2092E	TTN_uc021vsz.1_Missense_Mutation_p.G2046E|TTN_uc021vta.1_Missense_Mutation_p.G2046E|TTN_uc021vtb.1_Missense_Mutation_p.G2046E|TTN_uc002unb.2_Missense_Mutation_p.G2092E|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2092	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)			TGCATCAGATCCTTGGCCCAC	0.458000														16			11		0	0	0.013537	0	0
NLRP12	91662	broad.mit.edu	37	19	54327341	54327341	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:54327341A>C	uc002qcj.4	-	0	308	c.88T>G	c.(88-90)Tta>Gta	p.L30V	NLRP12_uc002qch.4_Missense_Mutation_p.L30V|NLRP12_uc002qci.4_Missense_Mutation_p.L30V|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.L30V	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	30	DAPIN.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCCAGGTATAACTTGAACTTC	0.602000														44			27		0	0	0.004656	0	0
FAT1	2195	broad.mit.edu	37	4	187510159	187510159	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:187510159G>T	uc003izf.3	-	26	13542	c.13354C>A	c.(13354-13356)Ccg>Acg	p.P4452T	FAT1_uc010isn.3_Missense_Mutation_p.P99T	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	4452					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AATTCGGGCGGTAACGGTGGT	0.537000										HNSCC(5;0.00058)				176			160		1.33982e-74	2.75677e-74	0.014410	1	0
PKDREJ	10343	broad.mit.edu	37	22	46658227	46658227	+	Silent	SNP	G	A	A	rs143050190		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr22:46658227G>A	uc003bhh.3	-	0	993	c.993C>T	c.(991-993)atC>atT	p.I331I		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	331	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AACTCCTGACGATCCAGACAT	0.547000														101			100		0	0	0.014410	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133666258	133666258	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:133666258C>T	uc003eqa.4	-	8	1411	c.1137G>A	c.(1135-1137)ggG>ggA	p.G379G	SLCO2A1_uc011blv.2_Silent_p.G198G	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	379					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						CAAACAGCATCCCCAAGGCTG	0.517000														0			17		0	0	0.004990	0	0
PTPRB	5787	broad.mit.edu	37	12	70980858	70980858	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:70980858C>T	uc001swb.4	-	6	1616	c.1586G>A	c.(1585-1587)cGa>cAa	p.R529Q	PTPRB_uc010sto.2_Missense_Mutation_p.R529Q|PTPRB_uc010stp.2_Missense_Mutation_p.R439Q|PTPRB_uc001swc.4_Missense_Mutation_p.R747Q|PTPRB_uc001swa.4_Missense_Mutation_p.R747Q|PTPRB_uc001swd.4_Missense_Mutation_p.R746Q|PTPRB_uc009zrr.2_Missense_Mutation_p.R626Q	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	529	Fibronectin type-III 6.				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)			CATGTATTTTCGTCCAGGCAC	0.373000														38			36		0	0	0.004289	0	0
SLC35F3	148641	broad.mit.edu	37	1	234452368	234452368	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:234452368C>T	uc001hvy.1	+	4	994	c.849C>T	c.(847-849)gcC>gcT	p.A283A	SLC35F3_uc001hwa.1_Silent_p.A214A	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	214					transport	integral to membrane		p.L282I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CCATCCTCGCCATCGCTGGCA	0.577000														202			194		0	0	0.014410	0	0
FOLR4	390243	broad.mit.edu	37	11	94038819	94038819	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:94038819C>T	uc021qou.1	+	0	17	c.17C>T	c.(16-18)cCg>cTg	p.P6L		NM_001199206	NP_001186135	A6ND01	FOLR4_HUMAN	Homo sapiens folate receptor 4 (delta) homolog (mouse) (FOLR4), mRNA.	6						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						TGCTGGTGGCCGCTCCTGCTA	0.582000														79			86		0	0	0.014410	0	0
NPHS2	7827	broad.mit.edu	37	1	179530463	179530463	+	Nonsense_Mutation	SNP	G	A	A	rs74315343		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:179530463G>A	uc001gmq.4	-	2	497	c.412C>T	c.(412-414)Cga>Tga	p.R138*	NPHS2_uc009wxi.3_Nonsense_Mutation_p.R138*	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	Homo sapiens nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2), mRNA.	138			R -> Q (in NPHS2).		excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						TGTCCCAGTCGGAATATAATT	0.388000														67			49		0	0	0.014410	0	0
LEPRE1	64175	broad.mit.edu	37	1	43212861	43212861	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:43212861G>A	uc001chx.4	-	13	2250	c.2137C>T	c.(2137-2139)Ccc>Tcc	p.P713S	LEPRE1_uc001chw.2_Intron|LEPRE1_uc001chv.2_Intron	NM_001243246	NP_001230175	Q32P28	P3H1_HUMAN	Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1 (LEPRE1), transcript variant 3, mRNA.	0					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	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			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGGGATTTGGGGAAGAGAAAG	0.607000											OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		39			33		0	0	0.013726	0	0
CRISP3	10321	broad.mit.edu	37	6	49700982	49700982	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:49700982G>A	uc021zai.1	-	5	604	c.516C>T	c.(514-516)ctC>ctT	p.L172L	CRISP3_uc003ozs.3_Silent_p.L162L	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.	149					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CACATCCAACGAGGTATGAAG	0.333000														90			36		0	0	0.007835	0	0
ATP1A3	478	broad.mit.edu	37	19	42480592	42480592	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:42480592G>A	uc002osh.3	-	14	2224	c.2070C>T	c.(2068-2070)atC>atT	p.I690I	ATP1A3_uc010xwf.2_Silent_p.I701I|ATP1A3_uc010xwg.2_Silent_p.I660I|ATP1A3_uc002osg.3_Silent_p.I690I|ATP1A3_uc010xwh.2_Silent_p.I703I			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	690					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CCTCCACAATGATGAGCTTCT	0.627000														32			21		0	0	0.003330	0	0
ISM2	145501	broad.mit.edu	37	14	77942259	77942259	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr14:77942259C>T	uc001xtz.3	-	6	1469	c.1395G>A	c.(1393-1395)ctG>ctA	p.L465L	ISM2_uc001xua.3_3'UTR|ISM2_uc001xty.3_Silent_p.L377L	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	465	AMOP.					extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GGTAGATGTCCAGGCGCTCGC	0.672000														3			20		0	0	0.012319	0	0
LOC440563	440563	broad.mit.edu	37	1	13183286	13183286	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:13183286G>A	uc010obg.2	-	1	830	c.587C>T	c.(586-588)tCt>tTt	p.S196F		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	196						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										TTCCAGGAGAGAATCCACTTT	0.448000														268			40		0	0	0.013114	0	0
TMC5	79838	broad.mit.edu	37	16	19451854	19451854	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr16:19451854G>A	uc002dgc.4	+	2	1243	c.494G>A	c.(493-495)gGa>gAa	p.G165E	TMC5_uc010vaq.2_Missense_Mutation_p.G165E|TMC5_uc002dgb.4_Missense_Mutation_p.G165E|TMC5_uc010var.2_Missense_Mutation_p.G165E	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	165						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						GACTACCCTGGAGCTCAGAGC	0.468000														79			65		0	0	0.014410	0	0
MYH4	4622	broad.mit.edu	37	17	10360936	10360936	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:10360936G>A	uc002gmn.3	-	15	1809	c.1698C>T	c.(1696-1698)ttC>ttT	p.F566F	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	566	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(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGGCTTCTGGAAGTTGTTGG	0.517000														44			41		0	0	0.008740	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	RNA	SNP	C	A	A	rs79307257	by1000genomes	TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:96593016C>A	uc010yug.1	-	26		c.1897G>T			ANKRD36C_uc002sva.1_Non-coding_Transcript|ANKRD36C_uc002svc.1_Non-coding_Transcript					Homo sapiens cDNA FLJ54441 complete cds, highly similar to Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.									p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318000														7			3		0.004672	0.00935369	0.004672	1	0
CDK13	8621	broad.mit.edu	37	7	40134079	40134079	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:40134079G>C	uc003thh.4	+	13	4321	c.4039G>C	c.(4039-4041)Gct>Cct	p.A1347P	CDK13_uc003thi.4_Missense_Mutation_p.A1287P|CDK13_uc003thj.3_Missense_Mutation_p.A398P|CDK13_uc003thk.3_Missense_Mutation_p.A280P	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	1347					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding	p.S1346C(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TTTCTCTTCTGCTCCTTATGT	0.423000														38			25		0	0	0.004656	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459654	107459654	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:107459654G>A	uc002tdq.3	-	1	899	c.780C>T	c.(778-780)cgC>cgT	p.R260R	ST6GAL2_uc002tdr.3_Silent_p.R260R|ST6GAL2_uc002tds.3_Silent_p.R260R	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	260					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GCGTCCGCACGCGCGCGCGGC	0.751000														3			4		0	0	0.009096	0	0
KIAA0754	643314	broad.mit.edu	37	1	39878830	39878830	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:39878830A>G	uc009vvt.1	+	0	3655	c.2893A>G	c.(2893-2895)Aca>Gca	p.T965A	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	829	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGTACCCATCACAGAGGAGGA	0.572000														13			13		0	0	0.001855	0	0
SH2B1	25970	broad.mit.edu	37	16	28880340	28880341	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr16:28880340_28880341CC>TT	uc002dri.3	+	5	1494_1495	c.1055_1056CC>TT	c.(1054-1056)tcc>tTT	p.S352F	NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Missense_Mutation_p.S42F|SH2B1_uc002drj.3_Missense_Mutation_p.S352F|SH2B1_uc002drk.3_Missense_Mutation_p.S352F|SH2B1_uc002drl.3_Missense_Mutation_p.S352F|SH2B1_uc010vdd.2_Missense_Mutation_p.S16F|SH2B1_uc010vde.2_Missense_Mutation_p.S352F|SH2B1_uc002drm.3_Missense_Mutation_p.S352F	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA.	352	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|PH.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GAAGGTCCATCCGAGTATATCA	0.554000														44			34		0	0	0.004672	0	0
ZNF215	7762	broad.mit.edu	37	11	6977591	6977591	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:6977591C>T	uc001mey.3	+	6	1971	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F	ZNF215_uc010raw.2_3'UTR|ZNF215_uc010rax.2_Silent_p.F223F|ZNF215_uc001mez.1_Intron	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	461					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		GAAACAATTTCTATCAATGTG	0.393000														27			25		0	0	0.004656	0	0
MYO1H	283446	broad.mit.edu	37	12	109847373	109847373	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:109847373G>A	uc010sxn.1	+	9	1119	c.1119G>A	c.(1117-1119)agG>agA	p.R373R		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						ATTTCACCAGGAAAACTGTAA	0.403000														10			77		0	0	0.014410	0	0
MIPEP	4285	broad.mit.edu	37	13	24415577	24415577	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr13:24415577C>T	uc001uox.4	-	10	1285	c.1157G>A	c.(1156-1158)tGc>tAc	p.C386Y		NM_005932	NP_005923	Q99797	MIPEP_HUMAN	Homo sapiens mitochondrial intermediate peptidase (MIPEP), nuclear gene encoding mitochondrial protein, mRNA.	386					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		GCCTTCCATGCATGCTCCAAG	0.418000														53			27		0	0	0.006320	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42434831	42434831	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr15:42434831C>T	uc001zoz.3	-	18	2316	c.2224G>A	c.(2224-2226)Gag>Aag	p.E742K	PLA2G4F_uc010bcq.3_Missense_Mutation_p.E39K|PLA2G4F_uc001zoy.3_Missense_Mutation_p.E374K|PLA2G4F_uc001zpa.3_Missense_Mutation_p.E493K|PLA2G4F_uc010bcr.3_Missense_Mutation_p.E493K|PLA2G4F_uc010bcs.3_Missense_Mutation_p.E529K	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	742	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TCACGGGCCTCCTCCATGTCC	0.602000														34			35		0	0	0.004289	0	0
TRPC4	7223	broad.mit.edu	37	13	38248468	38248468	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr13:38248468C>T	uc010abx.3	-	4	1506	c.1271G>A	c.(1270-1272)gGc>gAc	p.G424D	TRPC4_uc010abv.3_Missense_Mutation_p.G4D|TRPC4_uc001uwt.3_Missense_Mutation_p.G424D|TRPC4_uc001uws.3_Missense_Mutation_p.G424D|TRPC4_uc010tey.2_Missense_Mutation_p.G424D|TRPC4_uc010abw.3_Missense_Mutation_p.G251D|TRPC4_uc010aby.3_Missense_Mutation_p.G424D	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	424					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)		CTGAAGTCCGCCATCCCACAT	0.338000														34			13		0	0	0.003163	0	0
TGM3	7053	broad.mit.edu	37	20	2308845	2308845	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr20:2308845C>T	uc002wfx.4	+	8	1264	c.1167C>T	c.(1165-1167)atC>atT	p.I389I		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	389					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TGCCCTTTATCTTCGCGGAGG	0.557000														51			52		0	0	0.014410	0	0
PTPRB	5787	broad.mit.edu	37	12	71029512	71029512	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:71029512C>T	uc001swc.4	-	1	435	c.390G>A	c.(388-390)tgG>tgA	p.W130*	PTPRB_uc001swa.4_Nonsense_Mutation_p.W130*|PTPRB_uc001swd.4_Nonsense_Mutation_p.W129*|PTPRB_uc009zrr.2_Intron|PTPRB_uc001swe.3_Nonsense_Mutation_p.W130*	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 1, mRNA.	0	Fibronectin type-III 2.				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)			CTATTTTCATCCAGCTATGGA	0.438000														18			25		0	0	0.002780	0	0
TTN	7273	broad.mit.edu	37	2	179596978	179596978	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:179596978A>T	uc021vsy.1	-	53	13211	c.12986T>A	c.(12985-12987)aTt>aAt	p.I4329N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I990N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5256	Ig-like 23.						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)			TGTTATTTTAATTGGAGGGGT	0.418000														21			14		0	0	0.001855	0	0
SNAP91	9892	broad.mit.edu	37	6	84292048	84292048	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:84292048G>A	uc021zcf.1	-	21	2072	c.2042C>T	c.(2041-2043)tCc>tTc	p.S681F	SNAP91_uc011dzd.2_Missense_Mutation_p.S184F|SNAP91_uc003pka.3_Missense_Mutation_p.S679F|SNAP91_uc011dze.2_Missense_Mutation_p.S679F|SNAP91_uc003pkc.3_Missense_Mutation_p.S651F|SNAP91_uc003pkd.3_Missense_Mutation_p.S374F|SNAP91_uc003pkb.3_Missense_Mutation_p.S590F	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	681					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)		TGGAGATGGGGAAGGCGCCAT	0.433000														3			11		0	0	0.001855	0	0
PHF8	23133	broad.mit.edu	37	X	54011532	54011532	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:54011532C>T	uc004dsu.3	-	17	2612	c.2366G>A	c.(2365-2367)cGa>cAa	p.R789Q	PHF8_uc004dsv.3_Missense_Mutation_p.R619Q|PHF8_uc004dst.3_Missense_Mutation_p.R753Q|PHF8_uc004dsw.3_Missense_Mutation_p.R652Q|PHF8_uc004dsx.3_Missense_Mutation_p.R517Q|PHF8_uc004dsy.3_Missense_Mutation_p.R736Q	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN	Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.	789	Ser-rich.				G1/S transition of mitotic cell cycle|brain development|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CCCACTGCTTCGATCCTGTCC	0.642000														20			18		0	0	0.004990	0	0
NLRP11	204801	broad.mit.edu	37	19	56329286	56329286	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:56329286G>A	uc010ygf.2	-	3	966	c.255C>T	c.(253-255)atC>atT	p.I85I	NLRP11_uc002qmb.3_Intron|NLRP11_uc002qmc.3_Intron|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	85	DAPIN.						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)		GTCTGCCAATGATCTTCCTAC	0.438000														50			50		0	0	0.014410	0	0
OR6K3	391114	broad.mit.edu	37	1	158687210	158687210	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:158687210C>T	uc021pbn.1	-	0	696	c.696G>A	c.(694-696)ggG>ggA	p.G232G		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CCTTTTGCCTCCCTTCAGAAG	0.443000														5			5		0	0	0.000602	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702272	27702272	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:27702272C>T	uc001itu.2	-	0	1026	c.908G>A	c.(907-909)gGa>gAa	p.G303E		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	303					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CAAGATGTATCCTCCGAAGAA	0.597000														8			39		0	0	0.006999	0	0
XKR3	150165	broad.mit.edu	37	22	17264815	17264815	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr22:17264815C>T	uc002zlv.3	-	3	1172	c.1074G>A	c.(1072-1074)atG>atA	p.M358I	XKR3_uc011agf.2_Missense_Mutation_p.M358I	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	358						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ATACCAATATCATTATCACAT	0.403000														21			18		0	0	0.003954	0	0
MXRA5	25878	broad.mit.edu	37	X	3240932	3240932	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:3240932C>T	uc004crg.4	-	4	2951	c.2794G>A	c.(2794-2796)Gaa>Aaa	p.E932K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	932						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTGGGCTTTTCATAGACTGTG	0.507000														2			34		0	0	0.006230	0	0
LAMB3	3914	broad.mit.edu	37	1	209796937	209796937	+	Silent	SNP	T	C	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:209796937T>C	uc001hhg.3	-	14	2661	c.2271A>G	c.(2269-2271)ggA>ggG	p.G757G	LAMB3_uc009xco.3_Silent_p.G757G|LAMB3_uc001hhh.3_Silent_p.G757G|LAMB3_uc010psl.1_Non-coding_Transcript|MIR4260_uc021pil.1_5'Flank	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	757	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTCCTCCTCCTCCCGCCTGCC	0.647000														36			6		0	0	0.008871	0	0
CLVS1	157807	broad.mit.edu	37	8	62289311	62289311	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr8:62289311C>T	uc003xuh.3	+	2	927	c.603C>T	c.(601-603)atC>atT	p.I201I	CLVS1_uc003xug.2_3'UTR|CLVS1_uc003xui.3_Non-coding_Transcript	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	201	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CACCTTCAATCCTTAAACTGG	0.378000														15			14		0	0	0.003163	0	0
SCNN1A	6337	broad.mit.edu	37	12	6471234	6471234	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:6471234C>G	uc001qnw.3	-	2	1299	c.1035G>C	c.(1033-1035)caG>caC	p.Q345H	SCNN1A_uc001qnv.3_Splice_Site|SCNN1A_uc001qnx.3_Missense_Mutation_p.Q286H|SCNN1A_uc010sfb.2_Missense_Mutation_p.Q309H	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	286					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	TGCAGGAGACCTGGTTGAAGC	0.637000														57			33		0	0	0.004878	0	0
GK2	2712	broad.mit.edu	37	4	80328516	80328516	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:80328516C>T	uc003hlu.3	-	0	857	c.839G>A	c.(838-840)gGa>gAa	p.G280E		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	280					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GCAACCTGTTCCATAGGTGTT	0.473000														56			53		0	0	0.014410	0	0
MCTP2	55784	broad.mit.edu	37	15	94899466	94899466	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr15:94899466C>T	uc002btj.3	+	7	1171	c.1106C>T	c.(1105-1107)tCa>tTa	p.S369L	MCTP2_uc010urg.1_Missense_Mutation_p.S369L|MCTP2_uc002bti.2_Missense_Mutation_p.S369L|MCTP2_uc010boj.3_Missense_Mutation_p.S98L|MCTP2_uc010bok.3_Missense_Mutation_p.S369L|MCTP2_uc002btk.4_5'UTR|MCTP2_uc002btl.3_5'UTR	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	369	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AAGAATGTCTCAGGAGGAAGC	0.408000														13			17		0	0	0.004990	0	0
TPO	7173	broad.mit.edu	37	2	1488405	1488405	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:1488405G>A	uc002qwr.3	+	8	1462	c.1376G>A	c.(1375-1377)gGa>gAa	p.G459E	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Missense_Mutation_p.G459E|TPO_uc002qwx.3_Missense_Mutation_p.G459E|TPO_uc002qwu.3_Missense_Mutation_p.G459E|TPO_uc010yio.2_Missense_Mutation_p.G286E|TPO_uc010yip.2_Missense_Mutation_p.G459E|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.3_Non-coding_Transcript	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	459					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AGGATCCTGGGACCCGAGGCC	0.592000														27			19		0	0	0.012319	0	0
KRT77	374454	broad.mit.edu	37	12	53096962	53096962	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:53096962C>T	uc001saw.3	-	0	286	c.257G>A	c.(256-258)gGg>gAg	p.G86E	KRT77_uc009zmi.3_5'UTR	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	Homo sapiens keratin 77 (KRT77), mRNA.	86	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CCCTACTCCCCCACCCTGGCA	0.587000														3			13		0	0	0.013537	0	0
HOXD11	3237	broad.mit.edu	37	2	176973654	176973654	+	Silent	SNP	G	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:176973654G>T	uc002uki.3	+	1	801	c.801G>T	c.(799-801)cgG>cgT	p.R267R	HOXD11_uc010fqx.3_Non-coding_Transcript	NM_021192	NP_067015	P31277	HXD11_HUMAN	Homo sapiens homeobox D11 (HOXD11), mRNA.	267						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		AGCGGTCCCGGAAAAAGCGCT	0.587000			T	NUP98	AML									45			68		8.78217e-53	1.80315e-52	0.014410	1	0
MERTK	10461	broad.mit.edu	37	2	112760692	112760692	+	Missense_Mutation	SNP	G	A	A	rs143925029		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:112760692G>A	uc002thk.1	+	11	1836	c.1714G>A	c.(1714-1716)Gaa>Aaa	p.E572K	MERTK_uc002thl.1_Missense_Mutation_p.E396K	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	572					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						AGTCAGTGAGGAACTACAAAA	0.303000														82			68		0	0	0.014410	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212939	26212939	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:26212939G>A	uc022buc.1	+	0	976	c.976G>A	c.(976-978)Ggg>Agg	p.G326R	MAGEB6_uc004dbr.3_Missense_Mutation_p.G326R	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	326	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TTCAATCTATGGGGATGCTCG	0.488000														12			79		0	0	0.014410	0	0
FAM84B	157638	broad.mit.edu	37	8	127569289	127569289	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr8:127569289A>T	uc022bbc.1	-	0	346	c.346T>A	c.(346-348)Tgc>Agc	p.C116S	FAM84B_uc003yrz.2_Missense_Mutation_p.C116S	NM_174911	NP_777571	Q96KN1	FA84B_HUMAN	Homo sapiens family with sequence similarity 84, member B (FAM84B), mRNA.	116						cytoplasm|plasma membrane	protein binding			lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			CCCGGCTTGCACTTGTTGAGC	0.617000														25			14		0	0	0.001855	0	0
CPM	1368	broad.mit.edu	37	12	69250441	69250441	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:69250441C>T	uc001sup.3	-	8	1169	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N	CPM_uc001sur.3_Missense_Mutation_p.D370N|CPM_uc001suq.3_Missense_Mutation_p.D370N	NM_198320	NP_938079	P14384	CBPM_HUMAN	Homo sapiens carboxypeptidase M (CPM), transcript variant 2, mRNA.	370					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGTGTGGATCATGTCCAGGG	0.408000														37			23		0	0	0.003330	0	0
FTSJD1	55783	broad.mit.edu	37	16	71319468	71319468	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr16:71319468T>G	uc021tkr.1	-	0	356	c.356A>C	c.(355-357)cAt>cCt	p.H119P	FTSJD1_uc010cga.3_Missense_Mutation_p.H119P|FTSJD1_uc002ezy.4_Missense_Mutation_p.H119P|FTSJD1_uc002ezz.4_Missense_Mutation_p.H119P	NM_018348	NP_060818	Q8IYT2	FTSJ1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 1 (FTSJD1), transcript variant 1, mRNA.	119						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAAAATCTCATGGAACTTACA	0.393000														1			31		0	0	0.010818	0	0
DSC2	1824	broad.mit.edu	37	18	28667687	28667687	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr18:28667687G>A	uc002kwl.4	-	5	1174	c.720C>T	c.(718-720)taC>taT	p.Y240Y	DSC2_uc002kwk.4_Silent_p.Y240Y	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	240	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TAAAAATTGGGTAGTTATCAT	0.343000														24			23		0	0	0.014323	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961064	73961064	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:73961064C>T	uc004eby.3	-	2	3945	c.3328G>A	c.(3328-3330)Gaa>Aaa	p.E1110K		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1110					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.E1110K(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTGATTTTTTCCACACTGTCC	0.443000														9			14		0	0	0.002450	0	0
KRT25	147183	broad.mit.edu	37	17	38907211	38907211	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:38907211C>T	uc002hve.3	-	4	1013	c.952G>A	c.(952-954)Gcc>Acc	p.A318T		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	318	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CATACCGTGGCTAGGAGAGAC	0.418000														35			43		0	0	0.014410	0	0
CYP3A4	1576	broad.mit.edu	37	7	99381680	99381680	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:99381680T>C	uc003urv.2	-	0	132	c.25A>G	c.(25-27)Atg>Gtg	p.M9V	CYP3A4_uc003urw.2_Missense_Mutation_p.M9V|CYP3A4_uc011kiz.2_Missense_Mutation_p.M9V	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	9					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity	p.M9V(2)		breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	CAGGTTTCCATGGCCAAGTCT	0.507000														39			41		0	0	0.014410	0	0
SAMD7	344658	broad.mit.edu	37	3	169656259	169656259	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:169656259C>T	uc003fgd.3	+	8	1573	c.1306C>T	c.(1306-1308)Cct>Tct	p.P436S	SAMD7_uc003fge.3_Missense_Mutation_p.P436S|SAMD7_uc011bpo.2_Missense_Mutation_p.P337S	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	436										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TACAATAATTCCTAAAGGAAT	0.398000														0			18		0	0	0.007413	0	0
MYO1F	4542	broad.mit.edu	37	19	8587285	8587285	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:8587285C>T	uc002mkg.3	-	26	3334	c.3196G>A	c.(3196-3198)Gag>Aag	p.E1066K		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	1066	SH3.					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						TCAATGACCTCGTTCACGTTG	0.627000														24			19		0	0	0.004656	0	0
BCORL1	63035	broad.mit.edu	37	X	129173251	129173251	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:129173251C>T	uc022cdu.1	+	8	4656	c.4612C>T	c.(4612-4614)Ctc>Ttc	p.L1538F	BCORL1_uc004evc.2_Missense_Mutation_p.L374F	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1538					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GAAGCGCTTTCTCAGTGGTAA	0.557000														46			34		0	0	0.006230	0	0
OR51T1	401665	broad.mit.edu	37	11	4904108	4904108	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:4904108G>A	uc010qyp.2	+	0	1060	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	327					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W353L(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGAAGATGGGATTGAAGGTA	0.468000														6			12		0	0	0.013537	0	0
TTN	7273	broad.mit.edu	37	2	179446810	179446810	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:179446810C>T	uc021vsy.1	-	263	58807	c.58582G>A	c.(58582-58584)Gaa>Aaa	p.E19528K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E13223K|TTN_uc021vta.1_Missense_Mutation_p.E13156K|TTN_uc021vtb.1_Missense_Mutation_p.E13031K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20455							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)			GCCTGGGTTTCCCGCTTTTCA	0.438000														51			12		0	0	0.001855	0	0
GUCA1A	2978	broad.mit.edu	37	6	42147050	42147050	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:42147050G>A	uc003orx.3	+	5	1160	c.515G>A	c.(514-516)cGa>cAa	p.R172Q	GUCA1A_uc011duo.2_Non-coding_Transcript|GUCA1A_uc010jxt.3_Missense_Mutation_p.R172Q	NM_000409	NP_000400	P43080	GUC1A_HUMAN	Homo sapiens guanylate cyclase activator 1A (retina) (GUCA1A), mRNA.	172					signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity	p.R172Q(2)|p.R172*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ACACTGACACGAAGCCTGGAC	0.622000														26			15		0	0	0.003163	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962141	73962141	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:73962141C>T	uc004eby.3	-	2	2868	c.2251G>A	c.(2251-2253)Gaa>Aaa	p.E751K		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	751					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GATTGGTTTTCCAAGAGAGGG	0.378000														17			15		0	0	0.002450	0	0
AGAP6	414189	broad.mit.edu	37	10	51761856	51761856	+	Splice_Site	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:51761856C>T	uc001jix.4	+	5	895	c.497_splice	c.e5+1	p.S166_splice		NM_001077665	NP_001071133	C9IYN2	C9IYN2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 (AGAP6), mRNA.	166					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ACAATAATATCGTGAGTACAA	0.383000														52			57		0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9088904	9088904	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:9088904T>C	uc002mkp.3	-	0	3115	c.2911A>G	c.(2911-2913)Agt>Ggt	p.S971G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	971	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						AATCTGGGACTAGTCTCTGGC	0.463000														139			94		0	0	0.014410	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44799042	44799042	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:44799042A>G	uc003tlr.3	+	6	1099	c.976A>G	c.(976-978)Acg>Gcg	p.T326A	ZMIZ2_uc003tlq.3_Missense_Mutation_p.T294A|ZMIZ2_uc003tls.3_Missense_Mutation_p.T326A|ZMIZ2_uc003tlt.3_5'Flank|ZMIZ2_uc010kyj.3_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	326	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTGGCCCCACGGGACTGCA	0.701000														27			15		0	0	0.003163	0	0
FBXL7	23194	broad.mit.edu	37	5	15936668	15936668	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr5:15936668C>T	uc003jfn.1	+	3	1330	c.849C>T	c.(847-849)ttC>ttT	p.F283F		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	283					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CGGACTGCTTCGTGCTGGAGG	0.617000														11			21		0	0	0.012319	0	0
SCN1A	6323	broad.mit.edu	37	2	166898891	166898891	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:166898891G>A	uc002udo.4	-	13	2314	c.2087C>T	c.(2086-2088)tCt>tTt	p.S696F	SCN1A_uc010fpk.3_Missense_Mutation_p.S668F|SCN1A_uc021vsb.1_Missense_Mutation_p.S685F	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	696						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.P696T(1)|p.S685Y(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AACGTGGAAAGAACTTGACCT	0.363000														28			17		0	0	0.004990	0	0
TM4SF20	79853	broad.mit.edu	37	2	228228493	228228493	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:228228493C>T	uc002vpb.2	-	3	675	c.637G>A	c.(637-639)Ggt>Agt	p.G213S		NM_024795	NP_079071	Q53R12	T4S20_HUMAN	Homo sapiens transmembrane 4 L six family member 20 (TM4SF20), mRNA.	213						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CCAAGGAAACCGATGACTATC	0.378000														48			41		0	0	0.013114	0	0
TMEM222	84065	broad.mit.edu	37	1	27661924	27661924	+	Silent	SNP	C	T	T	rs114015897	byFrequency	TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:27661924C>T	uc001bnr.4	+	5	647	c.594C>T	c.(592-594)atC>atT	p.I198I	TMEM222_uc021ojt.1_Non-coding_Transcript|TMEM222_uc001bns.4_Non-coding_Transcript|TMEM222_uc001bnt.4_Non-coding_Transcript	NM_032125	NP_115501	Q9H0R3	TM222_HUMAN	Homo sapiens transmembrane protein 222 (TMEM222), transcript variant 1, mRNA.	198						integral to membrane	protein binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						TGGGCATCATCCTCACCGTCA	0.617000														54			49		0	0	0.014410	0	0
HTT	3064	broad.mit.edu	37	4	3230356	3230356	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:3230356C>T	uc021xkv.1	+	57	8008	c.7863C>T	c.(7861-7863)tcC>tcT	p.S2621S		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2621					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CCATACACTCCGTGTGGCTGG	0.647000														30			24		0	0	0.003330	0	0
ESRP2	80004	broad.mit.edu	37	16	68265985	68265985	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr16:68265985C>G	uc010cfa.1	-	9	1237	c.1049G>C	c.(1048-1050)cGt>cCt	p.R350P	ESRP2_uc002evp.1_Non-coding_Transcript|ESRP2_uc002evq.1_Missense_Mutation_p.R340P	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	Homo sapiens epithelial splicing regulatory protein 2 (ESRP2), mRNA.	350	RRM 1.				RNA splicing|mRNA processing|regulation of RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						TGACAAGAAACGAGCCACCTC	0.617000														13			11		0	0	0.010729	0	0
SDR16C5	195814	broad.mit.edu	37	8	57221525	57221525	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr8:57221525G>A	uc010lyk.1	-	3	1165	c.527C>T	c.(526-528)tCa>tTa	p.S176L	SDR16C5_uc003xsy.1_Missense_Mutation_p.S176L|SDR16C5_uc010lyl.1_Missense_Mutation_p.S132L	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	176					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						AGCTGAACTTGAAATGCAAAC	0.343000														56			30		0	0	0.003271	0	0
MYO1B	4430	broad.mit.edu	37	2	192194691	192194691	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:192194691C>T	uc010fsg.2	+	3	537	c.282C>T	c.(280-282)tcC>tcT	p.S94S	MYO1B_uc002usq.2_Silent_p.S94S|MYO1B_uc002usr.2_Silent_p.S94S|MYO1B_uc002uss.1_Silent_p.S94S	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	94	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CATACAGATCCCTACGAGATC	0.413000														99			106		0	0	0.014410	0	0
DNAJC10	54431	broad.mit.edu	37	2	183616503	183616504	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:183616503_183616504CT>TA	uc002uow.1	+	14	1840_1841	c.1425_1426CT>TA	c.(1423-1428)ttcttt>ttTAtt	p.F476I	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Missense_Mutation_p.F430I|DNAJC10_uc010fro.1_Non-coding_Transcript	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.	476	Thioredoxin 2.				ER-associated protein catabolic process|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTGTTGATTTCTTTGCCCCCGT	0.366000														117			55		0	0	0.004672	0	0
ZFAND2A	90637	broad.mit.edu	37	7	1195144	1195144	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:1195144A>G	uc003skd.4	-	3	528	c.227T>C	c.(226-228)gTt>gCt	p.V76A	ZFAND2A_uc003skc.3_Missense_Mutation_p.V76A|ZFAND2A_uc021zyp.1_Non-coding_Transcript			Q8N6M9	ZFN2A_HUMAN	Homo sapiens zinc finger, AN1-type domain 2A (ZFAND2A), mRNA.	76						cytoplasm|nucleus	zinc ion binding			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		GTGATCACCAACCACCACGTC	0.493000														70			51		0	0	0.014410	0	0
RIMBP3	85376	broad.mit.edu	37	22	20457900	20457900	+	Silent	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr22:20457900C>T	uc002zsd.4	-	0	3887	c.3402G>A	c.(3400-3402)aaG>aaA	p.K1134K	RN7SK_uc021wlw.1_5'Flank	NM_015672	NP_056487			Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CCTCACAAACCTTAAGCCCAT	0.567000														52			7		0	0	0.003080	0	0
C7orf58	79974	broad.mit.edu	37	7	120884389	120884389	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:120884389G>A	uc003vjq.4	+	17	2754	c.2307G>A	c.(2305-2307)agG>agA	p.R769R	C7orf58_uc003vjs.4_Silent_p.R769R|C7orf58_uc003vjt.4_Silent_p.R549R	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	769						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					TGGGAGGAAGGAAGGTAGGTT	0.478000														33			37		0	0	0.006230	0	0
XIST	7503	broad.mit.edu	37	X	73068109	73068109	+	RNA	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:73068109G>A	uc004ebm.1	-	0		c.4480C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		CAGCAGATAGGGAAATTGCAT	0.433000														8			7		0	0	0.003080	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156632089	156632089	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:156632089C>T	uc003iov.3	+	6	1308	c.772C>T	c.(772-774)Cac>Tac	p.H258Y	GUCY1A3_uc003iou.2_Missense_Mutation_p.H258Y|GUCY1A3_uc010iqc.2_Missense_Mutation_p.H258Y|GUCY1A3_uc010iqd.3_Missense_Mutation_p.H257Y|GUCY1A3_uc003iow.3_Missense_Mutation_p.H258Y|GUCY1A3_uc003iox.3_Missense_Mutation_p.H258Y|GUCY1A3_uc010iqe.3_Missense_Mutation_p.H23Y|GUCY1A3_uc003ioy.3_Missense_Mutation_p.H258Y|GUCY1A3_uc003ioz.3_Missense_Mutation_p.H23Y|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.H258Y	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	258					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.V257I(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GTACTCCGTTCACATGAAAAG	0.473000														36			27		0	0	0.005443	0	0
CLEC4E	26253	broad.mit.edu	37	12	8689719	8689719	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:8689719C>T	uc001quo.1	-	3	529	c.364G>A	c.(364-366)Gag>Aag	p.E122K		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.	122	C-type lectin.					integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					ACCTGCTCCTCCTGTGAGTTG	0.493000														49			45		0	0	0.014410	0	0
LRP1B	53353	broad.mit.edu	37	2	141079626	141079626	+	Missense_Mutation	SNP	T	A	A	rs150003749		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:141079626T>A	uc002tvj.1	-	81	13518	c.12546A>T	c.(12544-12546)gaA>gaT	p.E4182D		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4182					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)		AGCAAAGAAATTCGCATGCTA	0.383000										TSP Lung(27;0.18)				8			8		0	0	0.003080	0	0
TUBA8	51807	broad.mit.edu	37	22	18609239	18609239	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr22:18609239C>T	uc002znw.1	+	2	863	c.566C>T	c.(565-567)tCc>tTc	p.S189F	TUBA8_uc002znv.2_Missense_Mutation_p.S165F|TUBA8_uc021wkt.1_Missense_Mutation_p.S99F	NM_001193414	NP_001180343	Q9NY65	TBA8_HUMAN	Homo sapiens tubulin, alpha 8 (TUBA8), transcript variant 2, mRNA.	165					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						GGCAAGAAATCCAAGCTGGAG	0.557000														80			55		0	0	0.014410	0	0
PCDH18	54510	broad.mit.edu	37	4	138451472	138451472	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:138451472G>A	uc003ihe.4	-	0	2158	c.1771C>T	c.(1771-1773)Ccc>Tcc	p.P591S	PCDH18_uc003ihf.4_Missense_Mutation_p.P584S|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.P371S|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	591	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GCCCCTTTGGGAATGGTGATT	0.458000														80			62		0	0	0.014410	0	0
ADRBK2	157	broad.mit.edu	37	22	25961064	25961064	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr22:25961064G>A	uc003abx.4	+	0	204	c.57G>A	c.(55-57)aaG>aaA	p.K19K	ADRBK2_uc010gux.3_Silent_p.K19K|ADRBK2_uc003abw.2_5'UTR|ADRBK2_uc003aby.4_Non-coding_Transcript	NM_005160	NP_005151	P35626	ARBK2_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 2 (ADRBK2), mRNA.	19	N-terminal.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	CCATGGAGAAGAGCAAGGCGA	0.726000														18			11		0	0	0.003163	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212034	26212034	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:26212034G>A	uc022buc.1	+	0	71	c.71G>A	c.(70-72)gGt>gAt	p.G24D	MAGEB6_uc004dbr.3_Missense_Mutation_p.G24D	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	24										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CAGCCACAGGGTCTCACGGGT	0.567000														1			25		0	0	0.006320	0	0
CADM2	253559	broad.mit.edu	37	3	85961597	85961597	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:85961597G>A	uc003dql.3	+	4	583	c.583G>A	c.(583-585)Gac>Aac	p.D195N	CADM2_uc003dqj.3_Missense_Mutation_p.D193N|CADM2_uc003dqk.3_Missense_Mutation_p.D202N|CADM2_uc003dqm.2_Missense_Mutation_p.D85N|CADM2_uc021xay.1_Missense_Mutation_p.D85N|CADM2_uc021xaz.1_Missense_Mutation_p.D85N|CADM2_uc021xba.1_Missense_Mutation_p.D85N	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	193	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTTCCGAGTGGACCGGAGTGA	0.428000														22			6		0	0	0.001168	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24981828	24981828	+	Splice_Site	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr16:24981828C>T	uc002dnb.3	-	4	365	c.272_splice	c.e4+1	p.G91_splice	ARHGAP17_uc002dnc.3_Splice_Site_p.G91_splice|ARHGAP17_uc010vcf.2_Intron|ARHGAP17_uc002dng.1_Splice_Site_p.G91_splice	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.	91	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CAACTCTTACCCCAGGAGAGA	0.498000														100			92		0	0	0.014410	0	0
ANK3	288	broad.mit.edu	37	10	61832815	61832815	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:61832815G>A	uc001jky.3	-	36	8162	c.7824C>T	c.(7822-7824)tcC>tcT	p.S2608S	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2608					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.Q2607H(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTCTCTGGGGACTGCAGTT	0.448000														27			10		0	0	0.006214	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066766	18066766	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:18066766G>A	uc003stz.3	-	0	721	c.640C>T	c.(640-642)Cgt>Tgt	p.R214C		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	214	Binding of phosphoribosylpyrophosphate (Potential).				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					ATAGCCACACGATCATTCACA	0.453000														44			54		0	0	0.014410	0	0
AADACL4	343066	broad.mit.edu	37	1	12726394	12726394	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:12726394C>T	uc001auf.3	+	3	872	c.872C>T	c.(871-873)cCc>cTc	p.P291L		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	291						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GACAACATCCCCAAGAAATTT	0.507000														60			57		0	0	0.014410	0	0
PLK1S1	55857	broad.mit.edu	37	20	21142672	21142672	+	Missense_Mutation	SNP	C	T	T	rs6075771		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr20:21142672C>T	uc002wsb.3	+	4	699	c.566C>T	c.(565-567)cCt>cTt	p.P189L	PLK1S1_uc010zsh.2_Missense_Mutation_p.P86L|PLK1S1_uc010zsi.2_Missense_Mutation_p.P56L|PLK1S1_uc010zsj.2_Non-coding_Transcript|BC042893_uc002wsc.3_Intron|PLK1S1_uc002wsd.3_Non-coding_Transcript	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN	Homo sapiens polo-like kinase 1 substrate 1 (PLK1S1), transcript variant 1, mRNA.	189					spindle organization	centrosome	protein kinase binding										TTTTCAATTCCTGACCCACAT	0.448000														25			12		0	0	0.001855	0	0
SYT7	9066	broad.mit.edu	37	11	61318916	61318916	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:61318916G>A	uc001nrv.3	-	2	207	c.155C>T	c.(154-156)tCc>tTc	p.S52F	SYT7_uc009ynr.3_Missense_Mutation_p.S52F|SYT7_uc001nrx.1_Non-coding_Transcript	NM_004200	NP_004191	O43581	SYT7_HUMAN	Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA.	52						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGTCTCCAAGGAATTCTTGTA	0.592000														40			36		0	0	0.007835	0	0
YDJC	150223	broad.mit.edu	37	22	21982731	21982731	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr22:21982731G>A	uc002zvb.2	-	4	985	c.948C>T	c.(946-948)ccC>ccT	p.P316P	YDJC_uc002zvc.2_Non-coding_Transcript|YDJC_uc002zvd.2_3'UTR	NM_001017964	NP_001017964	A8MPS7	YDJC_HUMAN	Homo sapiens YdjC homolog (bacterial) (YDJC), mRNA.	316					carbohydrate metabolic process		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds					Colorectal(54;0.105)					GTTCCAGGAAGGGTTCCAGAG	0.617000														113			68		0	0	0.014410	0	0
GPRC6A	222545	broad.mit.edu	37	6	117130756	117130756	+	Silent	SNP	T	C	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:117130756T>C	uc003pxj.1	-	1	241	c.219A>G	c.(217-219)caA>caG	p.Q73Q	GPRC6A_uc003pxk.1_Silent_p.Q73Q|GPRC6A_uc003pxl.1_Silent_p.Q73Q	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	73					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)		TGGCAAGAGTTTGAAGAAAAA	0.363000														1			13		0	0	0.004007	0	0
PKDREJ	10343	broad.mit.edu	37	22	46658241	46658241	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr22:46658241C>G	uc003bhh.3	-	0	979	c.979G>C	c.(979-981)Gtc>Ctc	p.V327L		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	327	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CAGACATAGACGGCGTCCGAG	0.527000														111			108		0	0	0.014410	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188893	32188893	+	Missense_Mutation	SNP	G	A	A	rs144962111		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:32188893G>A	uc003obb.3	-	3	800	c.661C>T	c.(661-663)Ctc>Ttc	p.L221F	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.L221F	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	221	EGF-like 5; calcium-binding (Potential).				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						ACAGGGCAGAGGCACTGGAAG	0.647000														243			229		0	0	0.014410	0	0
FOS	2353	broad.mit.edu	37	14	75747343	75747343	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr14:75747343G>A	uc001xrn.3	+	2	679	c.474G>A	c.(472-474)agG>agA	p.R158R	FOS_uc010tva.2_Intron|FOS_uc010asi.3_Silent_p.R44R	NM_005252	NP_005243	P01100	FOS_HUMAN	Homo sapiens FBJ murine osteosarcoma viral oncogene homolog (FOS), mRNA.	158					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)		GCAACCGGAGGAGGGAGCTGA	0.453000														1			12		0	0	0.013537	0	0
MYO1A	4640	broad.mit.edu	37	12	57430736	57430736	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:57430736C>T	uc001smw.4	-	19	2435	c.2195G>A	c.(2194-2196)cGg>cAg	p.R732Q	MYO1A_uc010sqz.2_Missense_Mutation_p.R570Q|MYO1A_uc009zpd.3_Missense_Mutation_p.R732Q	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	732	IQ 2.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.R732L(2)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CATGTTTCCCCGAAACCAAGA	0.512000														97			55		0	0	0.014410	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433930	69433930	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:69433930C>T	uc021xov.1	-	0	316	c.273G>A	c.(271-273)atG>atA	p.M91I		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	91					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						CGAACATTTTCATAAAAAAAT	0.274000														37			37		0	0	0.003271	0	0
PCDH15	65217	broad.mit.edu	37	10	55571371	55571371	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:55571371G>A	uc021pqv.1	-	32	4410	c.4382C>T	c.(4381-4383)cCa>cTa	p.P1461L	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Missense_Mutation_p.P1459L	NM_001142770	NP_001136242	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant J, mRNA.	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGACTCCATGGATAATTCCT	0.328000										HNSCC(58;0.16)				9			3		0	0	0.009096	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	RNA	SNP	C	T	T	rs75189823	by1000genomes	TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:96593025C>T	uc010yug.1	-	26		c.1888G>A			ANKRD36C_uc002sva.1_Non-coding_Transcript|ANKRD36C_uc002svc.1_Non-coding_Transcript					Homo sapiens cDNA FLJ54441 complete cds, highly similar to Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.									p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318000														7			3		0	0	0.004672	0	0
KCND3	3752	broad.mit.edu	37	1	112524383	112524383	+	Silent	SNP	G	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:112524383G>A	uc001ebu.1	-	1	1446	c.966C>T	c.(964-966)ggC>ggT	p.G322G	KCND3_uc001ebv.1_Silent_p.G322G	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	322						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		AGAGAAGAAAGCCCAGTTCGG	0.562000														26			35		0	0	0.005524	0	0
DOCK3	1795	broad.mit.edu	37	3	50879124	50879124	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:50879124C>T	uc011bds.2	+	2	163	c.140C>T	c.(139-141)tCa>tTa	p.S47L		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	47	SH3.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGAGGAGTTTCAACAAAGAAG	0.289000														4			4		0	0	0.000602	0	0
CTBS	1486	broad.mit.edu	37	1	85039999	85040007	+	In_Frame_Del	DEL	GCAGCGCCA	-	-	rs3217269		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:85039999_85040007delGCAGCGCCA	uc001dka.2	-	0	157_165	c.92_100delTGGCGCTGC	c.(91-102)ctggcgctgcgg>cgg	p.LAL31del	CTBS_uc001dkc.3_5'UTR|CTBS_uc001dkb.2_5'UTR	NM_004388	NP_004379	Q01459	DIAC_HUMAN	Homo sapiens chitobiase, di-N-acetyl- (CTBS), mRNA.	31						lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		GCCGCGAGCCgcagcgccagcagcgccag	0.718													---	6	---	---	3	---					
APC	324	broad.mit.edu	37	5	112175951	112175952	+	Frame_Shift_Ins	INS	-	A	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr5:112175951_112175952insA	uc003kpz.4	+	16	4853_4854	c.4660_4661insA	c.(4660-4662)gaafs	p.E1554fs	APC_uc011cvt.2_Frame_Shift_Ins_p.E1536fs|APC_uc003kpy.4_Frame_Shift_Ins_p.E1554fs|APC_uc010jbz.3_Frame_Shift_Ins_p.E1271fs|APC_uc010jca.3_Frame_Shift_Ins_p.E854fs	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1554	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.T1556fs*3(42)|p.E1554fs*5(4)|p.E1554*(3)|p.E1554fs*3(2)|p.?(1)|p.T1556fs*9(1)|p.?fs(1)|p.K1192fs*3(1)|p.E1554fs*11(1)|p.A1553fs*14(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAAAGAGGCAGAAAAAACTATT	0.342		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			---	5	---	---	25	---					
KCNN2	3781	broad.mit.edu	37	5	113698631	113698632	+	In_Frame_Ins	INS	-	GCC	GCC	rs34838882	by1000genomes	TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr5:113698631_113698632insGCC	uc003kqo.3	+	0	616_617	c.159_160insGCC	c.(157-162)insGCC	p.58_59insA		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA.	58	Poly-Ala.					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	p.A58_V59insA(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CTGCAGCCGCTGCCGCCGCCGC	0.703													---	2	---	---	5	---					
RASSF4	83937	broad.mit.edu	37	10	45480284	45480285	+	Frame_Shift_Ins	INS	-	C	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:45480284_45480285insC	uc001jbp.3	+	4	2039_2040	c.490_491insC	c.(490-492)gccfs	p.A164fs	RASSF4_uc001jbo.3_Frame_Shift_Ins_p.A133fs|RASSF4_uc009xmn.3_Frame_Shift_Ins_p.A63fs|RASSF4_uc001jbq.3_Frame_Shift_Ins_p.A30fs|RASSF4_uc001jbt.3_Frame_Shift_Ins_p.A90fs			Q9H2L5	RASF4_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 4 (RASSF4), mRNA.	133					cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGCAGAGGAGGCCCCCCAGCTG	0.668													---	101	---	---	59	---					
CXorf22	170063	broad.mit.edu	37	X	35990026	35990026	+	Frame_Shift_Del	DEL	A	-	-			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:35990026delA	uc004ddj.3	+	12	2264	c.2198delA	c.(2197-2199)gaafs	p.E733fs	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	733										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ACTCCACAAGAAAAACATGAT	0.294													---	4	---	---	2	---					
GAGE2B	645037	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	TAT	TAT			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:49208295_49208296insTAT	uc004dnv.4	+	1	140_141	c.24_25insTAT	c.(22-27)insTAT	p.9_10insY	GAGE2B_uc004dnl.4_Intron|GAGE2B_uc022bwc.1_Intron|GAGE2B_uc011mne.2_Intron|GAGE2B_uc004dnn.4_Intron|GAGE2B_uc011mnf.2_Intron|GAGE2B_uc004dnq.4_Intron|GAGE2B_uc004dnr.4_Intron|GAGE2B_uc004dnk.4_Intron|GAGE2B_uc004dno.4_Intron|GAGE2B_uc004dnp.4_Intron|GAGE2B_uc010njc.3_In_Frame_Ins_p.9_10insY|GAGE2B_uc004dnt.4_In_Frame_Ins_p.9_10insY|GAGE2B_uc004dnu.4_In_Frame_Ins_p.9_10insY	NM_001127212	NP_001091881			Homo sapiens G antigen 2A (GAGE2A), mRNA.																		GAAGATCGACCTATCGGCCTAG	0.465													---	10	---	---	6	---