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
SYNJ1	8867	broad.mit.edu	37	21	34029011	34029011	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr21:34029011T>G	uc002yqh.2	-	20	2898	c.2898A>C	c.(2896-2898)gaA>gaC	p.E966D	SYNJ1_uc011ads.1_Missense_Mutation_p.E922D|SYNJ1_uc002yqf.2_Missense_Mutation_p.E927D|SYNJ1_uc002yqg.2_Missense_Mutation_p.E922D|SYNJ1_uc002yqi.2_Missense_Mutation_p.E966D	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	927	Pro-rich.|RRM.						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TAAGTATAACTTCACCAAAAC	0.318000														18			13		0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93699825	93699825	+	Splice_Site	SNP	T	A	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr10:93699825T>A	uc001khr.3	+	3	351	c.253_splice	c.e3+2	p.E85_splice	BTAF1_uc009xua.1_Splice_Site	NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	85					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CCAGACAAGGTGCTTTTAAGT	0.348000														18			18		0	0	1	0	0
ASAP3	55616	broad.mit.edu	37	1	23762469	23762469	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr1:23762469G>A	uc001bha.2	-	16	1748	c.1624C>T	c.(1624-1626)Cgc>Tgc	p.R542C	ASAP3_uc001bgy.1_Missense_Mutation_p.R46C|ASAP3_uc010odz.1_Missense_Mutation_p.R411C|ASAP3_uc010oea.1_Missense_Mutation_p.R533C	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA.	542	Arf-GAP.				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GTGCACCGGCGTGCAAACCTA	0.567000														78			50		0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112512562	112512562	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr12:112512562A>C	uc001ttm.3	-	8	841	c.783T>G	c.(781-783)gaT>gaG	p.D261E	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Missense_Mutation_p.D233E|NAA25_uc009zwa.2_Missense_Mutation_p.D261E	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	261						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ACTGCCAGTCATCTGAGCTAA	0.388000														53			39		0	0	1	0	0
IFNA13	3447	broad.mit.edu	37	9	21367998	21367998	+	Silent	SNP	C	T	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr9:21367998C>T	uc003zpa.2	-	0	78	c.12G>A	c.(10-12)tcG>tcA	p.S4S		NM_006900	NP_008831	P01562	IFNA1_HUMAN	Homo sapiens interferon, alpha 13 (IFNA13), mRNA.	3					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		AAGCAAAGGGCGAGGCCATCA	0.542000														59			40		0	0	1	0	0
TMCO3	55002	broad.mit.edu	37	13	114193672	114193672	+	Splice_Site	SNP	G	C	C			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr13:114193672G>C	uc001vtu.4	+	10	1901	c.1540_splice	c.e10-1	p.V514_splice		NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	Homo sapiens transmembrane and coiled-coil domains 3 (TMCO3), mRNA.	514						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CCTCTCTCAGGTCACGGAGCT	0.647000														39			30		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107974	168107974	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr2:168107974G>A	uc002udx.3	+	8	10161	c.10072G>A	c.(10072-10074)Gga>Aga	p.G3358R	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.G3183R|XIRP2_uc010fpq.3_Missense_Mutation_p.G3136R|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3183					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						TTATGCAAAGGGAGAAACAAA	0.358000														84			37		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48311414	48311414	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr7:48311414G>A	uc003toq.2	+	16	2175	c.2151G>A	c.(2149-2151)atG>atA	p.M717I	ABCA13_uc010kyr.2_Missense_Mutation_p.M220I|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	717					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACCTTCTAATGATGGAAAAGA	0.254000														6			4		0	0	1	0	0
C11orf42	160298	broad.mit.edu	37	11	6231215	6231215	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr11:6231215G>A	uc001mcj.3	+	1	256	c.208G>A	c.(208-210)Ggc>Agc	p.G70S		NM_173525	NP_775796	Q8N5U0	CK042_HUMAN	Homo sapiens chromosome 11 open reading frame 42 (C11orf42), mRNA.	70										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGTCGGCAGGGCCGGAGGGC	0.607000														36			29		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33635349	33635349	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr13:33635349G>T	uc001uus.3	+	3	2141	c.2133G>T	c.(2131-2133)tgG>tgT	p.W711C	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	711	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCCTGGCTTGGCATGTGTACA	0.478000														47			29		3.65163e-15	3.80221e-15	1	1	0
KCNA2	3737	broad.mit.edu	37	1	111146526	111146526	+	Silent	SNP	G	A	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr1:111146526G>A	uc021oro.1	-	0	879	c.879C>T	c.(877-879)ctC>ctT	p.L293L	KCNA2_uc009wfv.2_Silent_p.L293L|KCNA2_uc009wfw.3_Silent_p.L293L	NM_004974	NP_004965	P16389	KCNA2_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 2 (KCNA2), transcript variant 1, mRNA.	293						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		GGATGACACGGAGGATGGCCA	0.537000														59			53		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26890037	26890037	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr5:26890037C>A	uc003jgs.1	-	8	1589	c.1420G>T	c.(1420-1422)Gtc>Ttc	p.V474F	CDH9_uc011cnv.1_Missense_Mutation_p.V67F	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	474	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTGATGAAGACAGGGATGTGG	0.383000														199			35		9.80977e-26	1.06536e-25	1	1	0
SLC6A10P	386757	broad.mit.edu	37	16	32891125	32891125	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr16:32891125A>C	uc002edh.1	-	1	181	c.5T>G	c.(4-6)gTg>gGg	p.V2G	SLC6A10P_uc002edi.1_Intron					Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																		CACATCAGTCACCATGGAGAG	0.582000														147			27		0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070687	141070687	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr9:141070687C>T	uc010ncq.3	+	4	1462	c.622C>T	c.(622-624)Caa>Taa	p.Q208*						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.																		ACAACTGGGCCAAGGGACGCT	0.577000														0			3		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45387215	45387215	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr15:45387215C>G	uc001zun.3	-	31	4517	c.4314G>C	c.(4312-4314)gaG>gaC	p.E1438D	DUOX2_uc010bea.3_Missense_Mutation_p.E1438D	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1438					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGTGGTCGTTCTCCTCCACCT	0.572000														8			29		0	0	1	0	0
FZD5	7855	broad.mit.edu	37	2	208632890	208632890	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr2:208632890A>C	uc021vvr.1	-	0	574	c.574T>G	c.(574-576)Tgt>Ggt	p.C192G	FZD5_uc002vcj.3_Missense_Mutation_p.C192G	NM_003468	NP_003459	Q13467	FZD5_HUMAN	Homo sapiens frizzled family receptor 5 (FZD5), mRNA.	192					Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification|angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development	Golgi membrane|cell projection|cell surface|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding|protein kinase binding			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		GGCTCGCGACACTTGCACACG	0.706000														14			5		0	0	1	0	0
SDHAP2	727956	broad.mit.edu	37	3	195410687	195410687	+	Missense_Mutation	SNP	T	A	A	rs6583274	by1000genomes	TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr3:195410687T>A	uc003fuw.3	+	12	1778	c.584T>A	c.(583-585)gTg>gAg	p.V195E	SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		CCCTTTGAGGTGCACTGGAGG	0.567000														21			3		0	0	1	0	0
FMO4	2329	broad.mit.edu	37	1	171303595	171303595	+	Silent	SNP	C	T	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr1:171303595C>T	uc001gho.3	+	7	1090	c.873C>T	c.(871-873)atC>atT	p.I291I		NM_002022	NP_002013	P31512	FMO4_HUMAN	Homo sapiens flavin containing monooxygenase 4 (FMO4), mRNA.	291					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CAAACTGTATCCTCTGTGGGG	0.373000														40			28		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14806720	14806720	+	Silent	SNP	G	A	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr9:14806720G>A	uc003zlm.3	-	18	4029	c.3213C>T	c.(3211-3213)ggC>ggT	p.G1071G	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1071					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTTCGAGGTAGCCAAACTGAG	0.453000														7			6		0	0	1	0	0
EXO1	9156	broad.mit.edu	37	1	242013869	242013869	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr1:242013869A>G	uc021plj.1	+	1	456	c.142A>G	c.(142-144)Aaa>Gaa	p.K48E	EXO1_uc001hzh.3_Missense_Mutation_p.K48E|EXO1_uc009xgq.3_Missense_Mutation_p.K48E|EXO1_uc021plk.1_Missense_Mutation_p.K48E	NM_006027	NP_569082	Q9UQ84	EXO1_HUMAN	Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA.	48	N-domain.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AAAACTAGCCAAAGGTGAACC	0.418000								Editing and processing nucleases						84			6		0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266137	41266137	+	Missense_Mutation	SNP	C	T	T	rs121913409		TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr3:41266137C>T	uc010hia.1	+	3	290	c.134C>T	c.(133-135)tCt>tTt	p.S45F	CTNNB1_uc003ckq.2_Missense_Mutation_p.S45F|CTNNB1_uc003ckp.2_Missense_Mutation_p.S45F|CTNNB1_uc003ckr.2_Missense_Mutation_p.S45F|CTNNB1_uc011azf.1_Missense_Mutation_p.S38F|CTNNB1_uc011azg.1_Intron|AK311005_uc010hib.1_Non-coding_Transcript	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	45			Missing (in colorectal cancer).|S -> F (in hepatocellular carcinoma).|S -> P (in hepatocellular carcinoma).		Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S45F(830)|p.S45P(194)|p.S45del(137)|p.A5_A80del(119)|p.S45Y(43)|p.S45C(42)|p.A5_A80>D(14)|p.A5_Q143del(14)|p.S45A(12)|p.Q28_H134del(10)|p.H24_S47del(9)|p.P44A(9)|p.W25_I140del(7)|p.T3_A126del(4)|p.M5_N141>D(4)|p.D32_S47del(4)|p.S45_S47>C(4)|p.P44_S45del(4)|p.A5_Y142>D(4)|p.?(4)|p.L10_N141del(4)|p.P44S(4)|p.P44L(3)|p.S37_G48>C(2)|p.Q28_Q61del(2)|p.A20_N141del(2)|p.D11_Y142>H(2)|p.Y30_A97del(2)|p.A20_A80del(2)|p.E15_I140>V(2)|p.H24_M131del(2)|p.A13_R151del(2)|p.M1_A87del(2)|p.P44_N51del(2)|p.V22_T102del(2)|p.S45fs*2(2)|p.S45E(2)|p.A21_A80del(2)|p.I35_K170del(2)|p.M14_S45del(2)|p.Q4_A80del(2)|p.T42_G48del(2)|p.S45_G48del(2)|p.V22_L139>V(2)|p.T42_K49>Q(2)|p.S45_D58del(2)|p.P16_K133del(2)|p.T40_L46del(2)|p.A5_T59del(2)|p.M1_V173del(2)|p.M8_A80del(2)|p.A5_Q143>E(2)|p.H36_E53>L(2)|p.Y30_A80del(2)|p.S45_L46del(2)|p.T41_N51del(2)|p.A5_E54del(2)|p.V22_S71>A(2)|p.V22_Y64del(2)|p.A20_S111del(2)|p.E9_S47del(1)|p.A20_R151del(1)|p.D17_P128del(1)|p.L7_I140del(1)|p.G38_S45del(1)|p.M8_L132del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.P44del(1)|p.A20_Q143del(1)|p.A43_E53del(1)|p.S23_I140del(1)|p.Q4_D144del(1)|p.S45T(1)|p.V22_A97del(1)|p.S45S(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.P44_S45insAP(1)|p.W25_A80del(1)|p.A5_R90del(1)|p.P44_S45>AP(1)|p.P44_S45insGATTTAP(1)|p.E9_I140del(1)|p.S45_E54del(1)|p.A43_E54del(1)|p.A5_Q72del(1)|p.D6_K133del(1)|p.A5_D144>D(1)|p.D17_A126del(1)|p.Q4_Y142del(1)|p.5_142>(1)|p.A20_Q72del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	ACAGCTCCTTCTCTGAGTGGT	0.498000	S45F(HCC15_LUNG)|S45F(LS180_LARGE_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of					23			20		0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1079596	1079596	+	Nonsense_Mutation	SNP	G	C	C			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr5:1079596G>C	uc003jbu.3	-	9	1379	c.1313C>G	c.(1312-1314)tCa>tGa	p.S438*		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	438					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GGACCGGTTTGAACCCGCCAT	0.562000														201			21		0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51888783	51888783	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr12:51888783A>C	uc001rys.1	+	20	3002	c.2824A>C	c.(2824-2826)Atc>Ctc	p.I942L	SLC4A8_uc001rym.3_Missense_Mutation_p.I889L|SLC4A8_uc001ryn.3_Missense_Mutation_p.I889L|SLC4A8_uc001ryo.2_Missense_Mutation_p.I889L|SLC4A8_uc010snj.2_Missense_Mutation_p.I969L|SLC4A8_uc001ryr.3_Missense_Mutation_p.I942L	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	942					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	p.I942I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GCCAGATTTCATCTACCTGCG	0.527000														54			35		0	0	1	0	0
SLC40A1	30061	broad.mit.edu	37	2	190444550	190444550	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr2:190444550G>A	uc002uqp.4	-	1	451	c.100C>T	c.(100-102)Ctc>Ttc	p.L34F	SLC40A1_uc002uqr.1_Non-coding_Transcript|SLC40A1_uc002uqs.1_Non-coding_Transcript|SLC40A1_uc002uqq.2_Missense_Mutation_p.L34F|SLC40A1_uc010zfx.1_Non-coding_Transcript	NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA.	34					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			CAAGTAGAGAGAGAATGACCA	0.443000														37			26		0	0	1	0	0
PUM1	9698	broad.mit.edu	37	1	31437519	31437519	+	Splice_Site	SNP	A	C	C			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr1:31437519A>C	uc001bsi.1	-	14	2436	c.2323_splice	c.e14+1	p.G775_splice	PUM1_uc001bsf.1_Splice_Site_p.G441_splice|PUM1_uc001bsh.1_Splice_Site_p.G775_splice|PUM1_uc001bsj.1_Splice_Site_p.G749_splice|PUM1_uc010oga.1_Splice_Site_p.G631_splice|PUM1_uc001bsk.1_Splice_Site_p.G811_splice|PUM1_uc010ogb.1_Splice_Site_p.G716_splice	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	775	Ser-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		AATGGTTCTTACCCAGGTTTA	0.478000														114			107		0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55594221	55594221	+	Missense_Mutation	SNP	A	G	G	rs121913512		TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr4:55594221A>G	uc010igr.3	+	12	2011	c.1924A>G	c.(1924-1926)Aaa>Gaa	p.K642E	KIT_uc010igs.3_Missense_Mutation_p.K638E|KIT_uc010igt.2_Missense_Mutation_p.K91E	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	642	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.K642E(100)|p.K642Q(2)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCTGAACTCAAAGTCCTGAG	0.438000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors					57			56		0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73657119	73657119	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr17:73657119A>C	uc010dgl.3	-	5	1111	c.902T>G	c.(901-903)gTg>gGg	p.V301G	RECQL5_uc010dgk.3_Missense_Mutation_p.V274G|RECQL5_uc002joz.4_Missense_Mutation_p.V301G|RECQL5_uc002jpa.4_Missense_Mutation_p.V301G|RECQL5_uc002jpb.2_Missense_Mutation_p.V301G	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	301	Helicase C-terminal.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GTCGTTCTGCACCAGCGTTCT	0.498000								Other identified genes with known or suspected DNA repair function						121			8		0	0	1	0	0
CELA2A	63036	broad.mit.edu	37	1	15793953	15793953	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr1:15793953G>A	uc001awk.3	+	6	738	c.712G>A	c.(712-714)Ggg>Agg	p.G238R		NM_033440	NP_254275	P08217	CEL2A_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 2A (CELA2A), mRNA.	238	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						CGTCAGCTTCGGGTCTCGCCT	0.602000														29			36		0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510842	5510842	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr11:5510842G>T	uc010qzg.2	+	0	928	c.906G>T	c.(904-906)gaG>gaT	p.E302D	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAACCAAGGAGATTCGGAGTC	0.448000														43			30		6.07407e-21	6.5264e-21	1	1	0
CFH	3075	broad.mit.edu	37	1	196876133	196876133	+	Silent	SNP	T	G	G			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr1:196876133T>G	uc001gtp.3	+	3	719	c.582T>G	c.(580-582)ggT>ggG	p.G194G	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Silent_p.G193G|CFH_uc001gto.3_Intron	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	554	Sushi 3.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TAGTGTGTGGTGAAGATGGCT	0.343000														13			12		0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999873	72999873	+	Silent	SNP	C	T	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr18:72999873C>T	uc002lly.3	+	1	2939	c.2376C>T	c.(2374-2376)ctC>ctT	p.L792L	TSHZ1_uc021uln.1_Silent_p.L792L	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	837						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AGAGCGCACTCATGGACATCT	0.572000														51			24		0	0	1	0	0
HCK	3055	broad.mit.edu	37	20	30674488	30674488	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr20:30674488C>T	uc002wxh.3	+	8	1130	c.893C>T	c.(892-894)tCg>tTg	p.S298L	HCK_uc010gdy.3_Missense_Mutation_p.S278L|HCK_uc021wbv.1_Missense_Mutation_p.S277L|HCK_uc002wxi.3_Missense_Mutation_p.S276L	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	298	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGGAGCATGTCGGTGGAGGCC	0.567000														16			19		0	0	1	0	0
NFATC3	4775	broad.mit.edu	37	16	68160464	68160464	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr16:68160464G>T	uc002evo.2	+	2	1668	c.1352G>T	c.(1351-1353)gGt>gTt	p.G451V	NFATC3_uc010vkl.2_5'UTR|NFATC3_uc010vkm.2_5'UTR|NFATC3_uc010vkn.2_5'UTR|NFATC3_uc010vko.2_5'UTR|NFATC3_uc010vkp.2_5'UTR|NFATC3_uc010vkq.2_5'UTR|NFATC3_uc002evl.3_Intron|NFATC3_uc002evk.3_Missense_Mutation_p.G451V|NFATC3_uc002evm.2_Missense_Mutation_p.G451V|NFATC3_uc002evn.2_Missense_Mutation_p.G451V|NFATC3_uc010vkr.2_5'UTR|NFATC3_uc010vks.2_5'UTR|NFATC3_uc010vkt.2_5'UTR|NFATC3_uc010vku.2_5'UTR|NFATC3_uc010vkv.2_5'UTR|NFATC3_uc010vkw.2_5'UTR|NFATC3_uc010vkx.2_5'UTR|NFATC3_uc010vky.2_5'UTR|NFATC3_uc010vkz.2_5'UTR|NFATC3_uc010vla.2_5'UTR|NFATC3_uc010vlb.2_5'UTR|NFATC3_uc010vlc.2_5'UTR	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 (NFATC3), transcript variant 1, mRNA.	451	RHD.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	p.G451R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GAAACTGAAGGTAGCCGAGGG	0.448000														49			34		1.60099e-16	1.68437e-16	1	1	0
CYTH4	27128	broad.mit.edu	37	22	37692046	37692046	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr22:37692046G>T	uc003arf.3	+	3	290	c.174G>T	c.(172-174)atG>atT	p.M58I	CYTH4_uc003ard.4_Missense_Mutation_p.M58I|CYTH4_uc003are.2_Missense_Mutation_p.M58I|CYTH4_uc011amw.2_Missense_Mutation_p.M1I	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	58	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						ACAGCCGGATGGCCCAGAAGG	0.632000														13			8		0.00307968	0.00314189	1	1	0
SDHAP2	727956	broad.mit.edu	37	3	195410689	195410689	+	Missense_Mutation	SNP	C	T	T	rs6583275	by1000genomes	TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr3:195410689C>T	uc003fuw.3	+	12	1780	c.586C>T	c.(586-588)Cac>Tac	p.H196Y	SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		CTTTGAGGTGCACTGGAGGAA	0.567000														21			3		0	0	1	0	0
NKX6-3	157848	broad.mit.edu	37	8	41504731	41504731	+	Silent	SNP	T	G	G			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr8:41504731T>G	uc010lxa.1	-	1	167	c.144A>C	c.(142-144)gcA>gcC	p.A48A	NKX6-3_uc003xoa.2_Silent_p.A48A	NM_152568	NP_689781	A6NJ46	NKX63_HUMAN	Homo sapiens NK6 homeobox 3 (NKX6-3), mRNA.	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)	1	Ovarian(28;0.00541)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Esophageal squamous(32;0.0844)|Hepatocellular(245;0.154)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CAGAAAGACATGCAGGAGTGT	0.572000														1			5		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10428079	10428079	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr17:10428079G>A	uc010coi.3	-	33	5094	c.4966C>T	c.(4966-4968)Ctc>Ttc	p.L1656F	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.L1656F|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.	1656					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						TTTACCTTGAGGATGCCTTGG	0.502000														66			67		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55534850	55534850	+	Splice_Site	SNP	T	G	G			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr8:55534850T>G	uc003xsd.1	+	3	935	c.787_splice	c.e3+2	p.I263_splice	RP1_uc011ldy.1_Splice_Site_p.S263_splice	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	263					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCAGAAAGAGTAAGTCACTTA	0.403000														45			24		0	0	1	0	0
LMF1	64788	broad.mit.edu	37	16	919893	919893	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr16:919893G>A	uc021tae.1	-	8	1410	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V	LMF1_uc010brg.2_5'Flank|LMF1_uc010uuu.2_Missense_Mutation_p.A252V|LMF1_uc021tad.1_Missense_Mutation_p.A300V|LMF1_uc010bri.2_Missense_Mutation_p.A232V|LMF1_uc002ckk.2_Missense_Mutation_p.A252V	NM_022773	NP_073610	Q96S06	LMF1_HUMAN	Homo sapiens lipase maturation factor 1 (LMF1), transcript variant 1, mRNA.	469						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				CTGGAAGGCCGCGAACCACAT	0.632000														10			15		0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266125	41266125	+	Missense_Mutation	SNP	C	T	T	rs121913413		TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr3:41266125C>T	uc010hia.1	+	3	278	c.122C>T	c.(121-123)aCc>aTc	p.T41I	CTNNB1_uc003ckq.2_Missense_Mutation_p.T41I|CTNNB1_uc003ckp.2_Missense_Mutation_p.T41I|CTNNB1_uc003ckr.2_Missense_Mutation_p.T41I|CTNNB1_uc011azf.1_Missense_Mutation_p.T34I|CTNNB1_uc011azg.1_Intron|AK311005_uc010hib.1_Non-coding_Transcript	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer).		Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.T41A(622)|p.T41I(152)|p.A5_A80del(119)|p.A5_A80>D(14)|p.A5_Q143del(14)|p.T41N(13)|p.T40I(12)|p.Q28_H134del(10)|p.H24_S47del(9)|p.T41S(9)|p.T41P(7)|p.W25_I140del(7)|p.T3_A126del(4)|p.M5_N141>D(4)|p.D32_S47del(4)|p.A5_Y142>D(4)|p.?(4)|p.L10_N141del(4)|p.S37_G48>C(2)|p.Q28_Q61del(2)|p.A20_N141del(2)|p.D11_Y142>H(2)|p.Y30_A97del(2)|p.T40_L46del(2)|p.Q28_A43del(2)|p.E15_I140>V(2)|p.H24_M131del(2)|p.A13_R151del(2)|p.M1_A87del(2)|p.V22_T102del(2)|p.A21_A80del(2)|p.P16_K133del(2)|p.A39_T42del(2)|p.I35_K170del(2)|p.M14_S45del(2)|p.Q4_A80del(2)|p.V22_L139>V(2)|p.T41T(2)|p.V22_S71>A(2)|p.A20_A80del(2)|p.A5_T59del(2)|p.M1_V173del(2)|p.V22_Y64del(2)|p.T40S(2)|p.T40T(2)|p.M8_A80del(2)|p.A5_Q143>E(2)|p.H36_E53>L(2)|p.Y30_A80del(2)|p.A5fs*7(2)|p.T41_N51del(2)|p.A5_E54del(2)|p.I35_T41del(2)|p.A20_S111del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.A20_R151del(1)|p.D17_P128del(1)|p.L7_I140del(1)|p.G38_S45del(1)|p.M8_L132del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.A20_Q143del(1)|p.S23_I140del(1)|p.Q4_D144del(1)|p.V22_A97del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.A5_R90del(1)|p.T40A(1)|p.E9_I140del(1)|p.Y30_T40del(1)|p.M1_T42del(1)|p.A5_Q72del(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.A5_T40del(1)|p.D17_A126del(1)|p.Q4_Y142del(1)|p.W25_A80del(1)|p.5_142>(1)|p.A20_Q72del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GGTGCCACTACCACAGCTCCT	0.507000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of					34			3		0	0	1	0	0
OSR2	116039	broad.mit.edu	37	8	99963767	99963767	+	Silent	SNP	C	T	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr8:99963767C>T	uc011lgx.2	+	4	1561	c.1140C>T	c.(1138-1140)ccC>ccT	p.P380P	OSR2_uc003yir.3_Silent_p.P259P|OSR2_uc003yiq.3_Intron	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	Homo sapiens odd-skipped related 2 (Drosophila) (OSR2), transcript variant 1, mRNA.	259					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			ACAAATGTCCCACATGTGGAA	0.443000														27			4		0	0	1	0	0
SOX8	30812	broad.mit.edu	37	16	1034823	1034823	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr16:1034823G>A	uc002ckn.3	+	2	893	c.778G>A	c.(778-780)Gac>Aac	p.D260N		NM_014587	NP_055402	P57073	SOX8_HUMAN	Homo sapiens SRY (sex determining region Y)-box 8 (SOX8), mRNA.	260					Sertoli cell development|adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CCAGAACATCGACTTCAGCAA	0.682000														19			11		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131812721	131812721	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr8:131812721C>T	uc003ytd.4	-	14	3267	c.3011G>A	c.(3010-3012)gGa>gAa	p.G1004E	ADCY8_uc010mds.3_Missense_Mutation_p.G873E	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	1004					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.Q1003H(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCATTCCACTCCCTGGTTATT	0.448000										HNSCC(32;0.087)				138			69		0	0	1	0	0
EDA	1896	broad.mit.edu	37	X	68836358	68836358	+	Missense_Mutation	SNP	G	T	T	rs132630309	byFrequency	TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chrX:68836358G>T	uc004dxs.3	+	0	448	c.206G>T	c.(205-207)cGg>cTg	p.R69L	EDA_uc011mpj.2_Missense_Mutation_p.R69L|EDA_uc004dxr.3_Missense_Mutation_p.R69L|EDA_uc004dxm.1_Missense_Mutation_p.R69L|EDA_uc004dxn.1_Missense_Mutation_p.R69L|EDA_uc004dxp.1_Missense_Mutation_p.R69L|EDA_uc004dxq.1_Missense_Mutation_p.R69L	NM_001399	NP_001390	Q92838	EDA_HUMAN	Homo sapiens ectodysplasin A (EDA), transcript variant 1, mRNA.	69			R -> L (in ED1).		cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						TCGGAGTTGCGGCGGGAACGT	0.662000														26			3		0.004672	0.00471872	1	1	0
AOX1	316	broad.mit.edu	37	2	201477495	201477495	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr2:201477495C>T	uc002uvx.3	+	13	1528	c.1427C>T	c.(1426-1428)tCc>tTc	p.S476F	AOX1_uc010zhf.2_Missense_Mutation_p.S32F|AOX1_uc010fsu.3_5'UTR	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	476					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GCCAAGAATTCCTGCCAGAAA	0.448000														44			4		0	0	1	0	0
STIM2	57620	broad.mit.edu	37	4	27010414	27010414	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr4:27010414T>G	uc003gsg.4	+	9	1807	c.1279T>G	c.(1279-1281)Tta>Gta	p.L427V	STIM2_uc003gsh.4_Missense_Mutation_p.L435V|STIM2_uc010iex.3_Missense_Mutation_p.L427V|STIM2_uc010iey.3_Missense_Mutation_p.L138V	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	Homo sapiens stromal interaction molecule 2 (STIM2), transcript variant 2, mRNA.	427					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				GACAACTTGTTTACGAGAACG	0.413000														26			23		0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97969640	97969640	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr10:97969640T>C	uc001kls.4	-	8	878	c.700A>G	c.(700-702)Acc>Gcc	p.T234A	BLNK_uc001kme.4_Missense_Mutation_p.T129A|BLNK_uc001klt.4_Missense_Mutation_p.T125A|BLNK_uc009xvc.3_Non-coding_Transcript|BLNK_uc001klu.4_Missense_Mutation_p.T152A|BLNK_uc001klv.4_Missense_Mutation_p.T129A|BLNK_uc001klw.4_Intron|BLNK_uc001klx.4_Missense_Mutation_p.T211A|BLNK_uc001kly.4_Missense_Mutation_p.T234A|BLNK_uc001klz.4_Non-coding_Transcript|BLNK_uc001kma.4_Missense_Mutation_p.T211A|BLNK_uc001kmb.4_Missense_Mutation_p.T30A|BLNK_uc001kmc.4_Intron|BLNK_uc001kmd.4_Missense_Mutation_p.T152A|BLNK_uc009xvd.3_Non-coding_Transcript	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	234	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GGTGACTTGGTTTCCCAGGCC	0.582000														72			65		0	0	1	0	0
ALPI	248	broad.mit.edu	37	2	233321902	233321902	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr2:233321902C>G	uc002vst.4	+	4	595	c.518C>G	c.(517-519)gCc>gGc	p.A173G	ALPI_uc002vsu.4_Missense_Mutation_p.A84G	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	173					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GTGCAGCACGCCTCGCCAGCC	0.632000														34			22		0	0	1	0	0
SSX5	6758	broad.mit.edu	37	X	48054551	48054551	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chrX:48054551T>G	uc004diz.1	-	2	137	c.84A>C	c.(82-84)caA>caC	p.Q28H	SSX5_uc004dja.1_Intron	NM_021015	NP_066295	O60225	SSX5_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 5 (SSX5), transcript variant 1, mRNA.	23	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.Q28R(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						GGTCACAGACTTGTCTCCAGG	0.557000														14			42		0	0	1	0	0
TMEM246	84302	broad.mit.edu	37	9	104239214	104239214	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr9:104239214C>T	uc004bbm.3	-	1	483	c.161G>A	c.(160-162)cGc>cAc	p.R54H	AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Missense_Mutation_p.R54H	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA.	54						integral to membrane											ATGCCAATGGCGCAGATAGAA	0.542000														37			34		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41719705	41719705	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr21:41719705C>T	uc002yyq.1	-	5	1554	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	368	Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E368Q(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATAAGGTTTTCGTGGTTGATC	0.512000														140			101		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262800	45262800	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr5:45262800C>G	uc003jok.3	-	7	1921	c.1896G>C	c.(1894-1896)atG>atC	p.M632I		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	632						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTGCCTGCACCATCTCCCTGT	0.468000														78			27		0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89717766	89717766	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr10:89717766T>G	uc001kfb.3	+	6	1823	c.791T>G	c.(790-792)aTg>aGg	p.M264R	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	264	C2 tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.K263*(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M264fs*8(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.D252_K263>AKE(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAGAACAAGATGCTAAAAAAG	0.358000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				38			31		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121650513	121650513	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr3:121650513A>C	uc003eep.2	+	18	1845	c.1692A>C	c.(1690-1692)gaA>gaC	p.E564D	SLC15A2_uc011bjn.1_Missense_Mutation_p.E533D	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	564					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GTAGAACAGAAGATAAGAACT	0.403000														17			10		0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	84140598	84140598	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr6:84140598T>G	uc003pjy.3	-	0	341	c.76A>C	c.(76-78)Aag>Cag	p.K26Q	ME1_uc011dzb.2_5'UTR|ME1_uc011dzc.2_5'UTR	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	26					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	GGGTTTACCTTGTTGAGGTGA	0.721000														1			4		0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75015123	75015123	+	Missense_Mutation	SNP	G	A	A	rs34045449	byFrequency	TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr15:75015123G>A	uc002ayp.4	-	1	438	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	CYP1A1_uc010bjy.3_Missense_Mutation_p.R106W|CYP1A1_uc010bju.3_Intron|CYP1A1_uc010bjv.3_Non-coding_Transcript|CYP1A1_uc010bjw.3_Non-coding_Transcript|CYP1A1_uc010bjx.3_Intron|CYP1A1_uc002ayq.4_Missense_Mutation_p.R106W|CYP1A1_uc010bjz.1_Intron|CYP1A1_uc021sqk.1_Missense_Mutation_p.R106W	NM_000499	NP_000490	P04798	CP1A1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA.	106					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	AGGTCGGGCCGGCCCTTGAAA	0.652000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					53			37		0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83250981	83250981	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr16:83250981A>G	uc010vns.2	+	5	920	c.656A>G	c.(655-657)aAg>aGg	p.K219R	CDH13_uc002fgx.3_Missense_Mutation_p.K172R|CDH13_uc010vnt.2_5'UTR|CDH13_uc010vnu.2_Missense_Mutation_p.K133R	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	172	Cadherin 1.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GAAAGGTCCAAGTTCCGGCTC	0.463000														54			8		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99642005	99642005	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr14:99642005G>A	uc001yga.3	-	3	1435	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W	BCL11B_uc001ygb.3_Missense_Mutation_p.R319W	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	390						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TTCAGGAGCCGGTGCATAGGG	0.771000			T	TLX3	T-ALL									10			8		0	0	1	0	0
VEZT	55591	broad.mit.edu	37	12	95676136	95676136	+	Silent	SNP	G	T	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr12:95676136G>T	uc001tdz.2	+	7	1149	c.1044G>T	c.(1042-1044)cgG>cgT	p.R348R	VEZT_uc001tds.3_Silent_p.R300R|VEZT_uc001tdv.3_Silent_p.R321R|VEZT_uc009ztb.2_Non-coding_Transcript|VEZT_uc009ztc.1_Splice_Site|VEZT_uc001tdy.2_Non-coding_Transcript	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	Homo sapiens vezatin, adherens junctions transmembrane protein (VEZT), transcript variant 1, mRNA.	348						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TCTTCAGACGGTTAGCCCTAT	0.413000														70			4		0.150653	0.150653	1	1	0
GPR133	283383	broad.mit.edu	37	12	131484963	131484963	+	Silent	SNP	G	A	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr12:131484963G>A	uc010tbm.2	+	9	1657	c.1098G>A	c.(1096-1098)ctG>ctA	p.L366L	GPR133_uc001uit.4_Silent_p.L334L	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	334					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCCTTCTACTGCCTGGTTGGA	0.498000														40			24		0	0	1	0	0
PRNP	5621	broad.mit.edu	37	20	4680251	4680251	+	Missense_Mutation	SNP	A	G	G	rs1799990	byFrequency	TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr20:4680251A>G	uc021wae.1	+	0	385	c.385A>G	c.(385-387)Atg>Gtg	p.M129V	PRNP_uc002wkt.1_Missense_Mutation_p.M99V|PRNP_uc002wku.3_Missense_Mutation_p.M129V|PRNP_uc002wkv.3_Missense_Mutation_p.M129V|PRNP_uc002wkw.3_Missense_Mutation_p.M129V|PRNP_uc002wkx.3_Missense_Mutation_p.M129V|PRNP_uc002wky.3_Missense_Mutation_p.M129V|PRNP_uc010gbe.1_Missense_Mutation_p.M129V	NM_183079	NP_898902	P04156	PRIO_HUMAN	Homo sapiens prion protein (PRNP), transcript variant 2, mRNA.	129	Interaction with GRB2, ERI3 and SYN1 (By similarity).		M -> V (polymorphism; determines the disease phenotype in patients who have a PrP mutation at position 178. Patients with M-129 develop FFI, those with V-129 develop CJD; dbSNP:rs1799990).		axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of T cell receptor signaling pathway|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|protein homooligomerization|response to oxidative stress	Golgi apparatus|anchored to membrane|endoplasmic reticulum|extrinsic to membrane|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding	p.M129V(4)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	TGGCGGCTACATGCTGGGAAG	0.547000														82			6		0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117398016	117398016	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr7:117398016G>A	uc003vjf.3	-	10	3273	c.3181C>T	c.(3181-3183)Ccg>Tcg	p.P1061S		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	1061										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ACTGACCACGGCACATTTCCT	0.453000														23			3		0	0	1	0	0
RXFP3	51289	broad.mit.edu	37	5	33937492	33937492	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr5:33937492C>T	uc003jic.2	+	0	1002	c.647C>T	c.(646-648)gCg>gTg	p.A216V		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 3 (RXFP3), mRNA.	216						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						TCGGCCAAGGCGCTGTGTGTG	0.687000														41			18		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12353756	12353756	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr1:12353756C>T	uc001atv.3	+	23	6169	c.6028C>T	c.(6028-6030)Cag>Tag	p.Q2010*	VPS13D_uc001atw.3_Nonsense_Mutation_p.Q2010*|VPS13D_uc001atx.3_Nonsense_Mutation_p.Q1198*	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2010					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TATTGAGGGGCAGACGGTAGG	0.517000														9			8		0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52943994	52943994	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr12:52943994C>T	uc001sao.3	-	1	545	c.475G>A	c.(475-477)Gag>Aag	p.E159K		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	159	Coil 1A.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CACTTGGTCTCCAGTACCTGG	0.567000														59			24		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716493	13716493	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr12:13716493T>G	uc001rbt.2	-	12	3858	c.3679A>C	c.(3679-3681)Acg>Ccg	p.T1227P		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1227					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCACCGTCGTGGAGTAGTTG	0.602000														50			31		0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35984826	35984826	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chrX:35984826A>C	uc004ddj.3	+	8	1621	c.1555A>C	c.(1555-1557)Atc>Ctc	p.I519L	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	519										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						TTTCAACAGCATCTGTAAAGC	0.368000														17			35		0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53574852	53574852	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chrX:53574852T>C	uc004dsp.3	-	67	10820	c.10418A>G	c.(10417-10419)cAg>cGg	p.Q3473R	HUWE1_uc004dsn.3_Missense_Mutation_p.Q2281R	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3473					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGAATTAGCCTGTGCTTCTGA	0.562000														7			3		0	0	1	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751195	26751195	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr3:26751195C>T	uc003cdp.3	+	1	621	c.32C>T	c.(31-33)tCc>tTc	p.S11F	LRRC3B_uc003cdq.3_Missense_Mutation_p.S11F|LRRC3B_uc021wuj.1_Missense_Mutation_p.S11F	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	11						integral to membrane		p.R10H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TTAACCCGTTCCCTCTCCATG	0.478000														71			35		0	0	1	0	0
WWTR1	25937	broad.mit.edu	37	3	149243902	149243902	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr3:149243902G>A	uc003exf.3	-	5	1256	c.916C>T	c.(916-918)Cat>Tat	p.H306Y	WWTR1_uc003exe.3_Missense_Mutation_p.H306Y|WWTR1_uc021xfm.1_Missense_Mutation_p.H306Y|WWTR1_uc003exh.3_Missense_Mutation_p.H306Y	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	Homo sapiens WW domain containing transcription regulator 1 (WWTR1), transcript variant 1, mRNA.	306					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TCCCTCGAATGATATGGCCCT	0.458000			T	CAMTA1	epitheliod hemangioendothelioma									33			12		0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153580602	153580602	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chrX:153580602T>C	uc004fkk.2	-	40	6965	c.6716A>G	c.(6715-6717)cAc>cGc	p.H2239R	FLNA_uc011mzn.1_Missense_Mutation_p.H372R|FLNA_uc010nuu.1_Missense_Mutation_p.H2231R	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	2239					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCGGACCTTGTGGGCTCCCCC	0.667000														3			21		0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99574349	99574349	+	Silent	SNP	G	A	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr13:99574349G>A	uc001vnt.2	-	5	596	c.541C>T	c.(541-543)Ctg>Ttg	p.L181L	DOCK9_uc001vnw.2_Silent_p.L180L|DOCK9_uc021rlw.1_Silent_p.L180L|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Silent_p.L181L|DOCK9_uc010tis.1_Silent_p.L180L|DOCK9_uc010tit.1_Silent_p.L181L|DOCK9_uc010afu.1_5'UTR	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	181	PH.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCTTTGTACAGCCAGCCATGC	0.552000														5			3		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179490119	179490119	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr2:179490119A>T	uc021vsy.1	-	189	36950	c.36725T>A	c.(36724-36726)gTc>gAc	p.V12242D	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V5937D|TTN_uc021vta.1_Missense_Mutation_p.V5870D|TTN_uc021vtb.1_Missense_Mutation_p.V5745D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13169	Ig-like 82.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R12241H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAACGTGGGACCACCTAGTT	0.343000														93			60		0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119134952	119134952	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr3:119134952G>T	uc003ecj.4	+	11	4708	c.4176G>T	c.(4174-4176)ttG>ttT	p.L1392F		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	1392					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GTGGAGAGTTGGCAGAAAACA	0.502000														57			40		9.8876e-21	1.05121e-20	1	1	0
CASD1	64921	broad.mit.edu	37	7	94147545	94147545	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr7:94147545T>A	uc003uni.4	+	2	488	c.261T>A	c.(259-261)caT>caA	p.H87Q	CASD1_uc003unh.2_Missense_Mutation_p.H87Q|CASD1_uc003unj.4_Missense_Mutation_p.H87Q	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	87						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TAGATAAACATATTGCATTTA	0.303000														128			46		0	0	1	0	0
AK098438	0	broad.mit.edu	37	1	21751193	21751193	+	RNA	SNP	C	A	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr1:21751193C>A	uc001bep.1	-	4		c.465G>T								Homo sapiens cDNA FLJ25572 fis, clone JTH05111.																		TTGTCCACGTCAAGGGCCAAG	0.453000														173			68		2.0191e-50	2.21662e-50	1	1	0
FN1	2335	broad.mit.edu	37	2	216236929	216236929	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr2:216236929T>A	uc002vfa.3	-	39	6683	c.6417A>T	c.(6415-6417)caA>caT	p.Q2139H	FN1_uc002vfc.3_Missense_Mutation_p.Q1933H|FN1_uc002vfe.3_Missense_Mutation_p.Q2048H|FN1_uc002vff.3_Missense_Mutation_p.Q2023H|FN1_uc002vfg.3_Missense_Mutation_p.Q1958H|FN1_uc002vfh.3_Intron|FN1_uc002vfi.3_Missense_Mutation_p.Q2139H|FN1_uc002vfj.3_Intron|FN1_uc002vfb.3_Missense_Mutation_p.Q1958H|FN1_uc002vez.3_Missense_Mutation_p.Q333H|FN1_uc010zjp.2_Missense_Mutation_p.Q676H|FN1_uc002vfk.1_Intron|FN1_uc010fva.1_Intron|FN1_uc010fvb.1_Intron|FN1_uc010fvc.1_Intron|FN1_uc010fvd.1_Missense_Mutation_p.Q230H	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	2048	Fibronectin type-III 16.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGATCATTTGTTGCCCAACAC	0.537000														65			39		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97839149	97839149	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr1:97839149C>T	uc001drv.3	-	15	2163	c.2026G>A	c.(2026-2028)Gga>Aga	p.G676R		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	676	Uracil binding (Potential).				'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)	CCTCTTTCTCCCATGCCATGT	0.443000														33			14		0	0	1	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664004	169664004	+	RNA	SNP	C	T	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr3:169664004C>T	uc011bpp.2	-	1		c.3799G>A								Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA.																		TGCCAGGGCTCATCCTAGTAA	0.498000														67			32		0	0	1	0	0
FAM73A	374986	broad.mit.edu	37	1	78340633	78340633	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr1:78340633C>A	uc010ork.2	+	15	1818	c.1786C>A	c.(1786-1788)Cgc>Agc	p.R596S	FAM73A_uc001dhx.3_Missense_Mutation_p.R595S|FAM73A_uc010orl.2_Missense_Mutation_p.R558S	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	Homo sapiens family with sequence similarity 73, member A (FAM73A), mRNA.	595						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		ACTCATTCGCCGCACTGAGCT	0.428000														27			28		9.39395e-14	9.68152e-14	1	1	0
DKK3	27122	broad.mit.edu	37	11	11986189	11986189	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr11:11986189C>T	uc010rcg.1	-	7	1075	c.917G>A	c.(916-918)cGt>cAt	p.R306H	DKK3_uc010rcf.2_Missense_Mutation_p.R264H|DKK3_uc001mju.3_Missense_Mutation_p.R292H|DKK3_uc001mjv.3_Missense_Mutation_p.R292H|DKK3_uc001mjw.3_Missense_Mutation_p.R292H	NM_015881	NP_056965	Q9UBP4	DKK3_HUMAN	Homo sapiens dickkopf 3 homolog (Xenopus laevis) (DKK3), transcript variant 1, mRNA.	292					Wnt receptor signaling pathway|adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent	extracellular space				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		ATCTTGGTCACGGCTCCCCAC	0.617000														30			23		0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174869336	174869336	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr5:174869336G>A	uc003mcz.3	-	1	1712	c.767C>T	c.(766-768)cCg>cTg	p.P256L	DRD1_uc021yia.1_Missense_Mutation_p.P256L	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	256					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	p.P256L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	AGAACTTTCCGGTTGAGAACA	0.478000														65			30		0	0	1	0	0
OR6M1	390261	broad.mit.edu	37	11	123677045	123677045	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr11:123677045T>C	uc010rzz.2	-	0	13	c.13A>G	c.(13-15)Agc>Ggc	p.S5G		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		GTCACAGTGCTCCAGTTTCCC	0.418000														10			53		0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1079555	1079555	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr5:1079555G>C	uc003jbu.3	-	9	1420	c.1354C>G	c.(1354-1356)Ccc>Gcc	p.P452A		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	452					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	p.P452P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GTCCCCGTGGGGATGGACTTC	0.587000														300			33		0	0	1	0	0
FAM194A	131831	broad.mit.edu	37	3	150421523	150421528	+	In_Frame_Del	DEL	CCTCCT	-	-	rs139473500	by1000genomes	TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr3:150421523_150421528delCCTCCT	uc003eyg.3	-	0	215_220	c.158_163delAGGAGG	c.(157-165)gaggaggtg>gtg	p.EE53del	FAM194A_uc003eyh.3_Intron	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	53	Glu-rich.									NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						tcctccaccacctcctcctcctcctc	0.602													---	21	---	---	8	---					
BC070322	0	broad.mit.edu	37	9	69634663	69634664	+	RNA	INS	-	G	G			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr9:69634663_69634664insG	uc004afu.3	-	2		c.407_408insC								Homo sapiens aquaporin 7 pseudogene 2, mRNA (cDNA clone IMAGE:30406582).																		GGTGAAGATGCGGGGGGGGCAG	0.569													---	152	---	---	19	---					
CBL	867	broad.mit.edu	37	11	119148884	119148895	+	In_Frame_Del	DEL	TGAATTATACTG	-	-			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr11:119148884_119148895delTGAATTATACTG	uc001pwe.3	+	7	1242_1253	c.1104_1115delTGAATTATACTG	c.(1102-1116)tatgaattatactgt>tat	p.ELYC369del		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	369	Asp/Glu-rich (acidic).|Linker.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.Y371H(35)|p.E366_Q409del(26)|p.Y371D(6)|p.?(3)|p.E366_K477del(2)|p.L370_Y371insL(2)|p.Y371C(2)|p.E369_D390del(2)|p.Y371S(2)|p.E369_Q409del(2)|p.K322_D460del(1)|p.Q367_Y368insQ(1)|p.Y368*(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		AGGAACAATATGAATTATACTGTGAGATGGGC	0.316			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				---	8	---	---	52	---					
NUDT4	11163	broad.mit.edu	37	12	93788429	93788429	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr12:93788429delC	uc010sup.2	+	1	542	c.144delC	c.(142-144)gtcfs	p.V48fs	NUDT4_uc001tcm.3_Frame_Shift_Del_p.V48fs|NUDT4_uc001tcn.3_5'UTR|NUDT4_uc010suq.2_5'UTR|NUDT4_uc001tco.3_5'UTR	NM_199040	NP_950241	Q9NZJ9	NUDT4_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 4 (NUDT4), transcript variant 2, mRNA.	48	Nudix hydrolase.				calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			endometrium(2)|kidney(1)|lung(2)	5						AGTGGATTGTCCCAGGAGGAG	0.507													---	4	---	---	2	---					
SOX10	6663	broad.mit.edu	37	22	38369705	38369715	+	Frame_Shift_Del	DEL	ACTGGGGGCGG	-	-			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr22:38369705_38369715delACTGGGGGCGG	uc003aun.1	-	3	1466_1476	c.1188_1198delCCGCCCCCAGT	c.(1186-1200)tcccgcccccagtttfs	p.S396fs	AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Frame_Shift_Del_p.S396fs	NM_006941	NP_008872	P56693	SOX10_HUMAN	Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA.	396						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					GAGTAGTCAAACTGGGGGCGGGAGATGGAGG	0.640													---	32	---	---	9	---					
