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
AKR1CL1	340811	broad.mit.edu	37	10	5203688	5203688	+	RNA	SNP	A	G	G			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:5203688A>G	uc009xhz.2	-	3		c.504T>C								Homo sapiens aldo-keto reductase family 1, member C-like 1 (AKR1CL1), non-coding RNA.											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						AGTTTTGGCAATCCTATGCAC	0.413000														38			16		0	0	0.000566183	0	0
KCTD8	386617	broad.mit.edu	37	4	44176894	44176894	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr4:44176894C>T	uc003gwu.3	-	1	1619	c.1335G>A	c.(1333-1335)caG>caA	p.Q445Q		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	445						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.Q445K(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTTTAAAATCCTGAATACACT	0.383000										HNSCC(17;0.042)				95			25		0	0	0.00047179	0	0
DHX16	8449	broad.mit.edu	37	6	30630409	30630409	+	Silent	SNP	A	G	G			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr6:30630409A>G	uc003nqz.3	-	8	1751	c.1539T>C	c.(1537-1539)agT>agC	p.S513S	DHX16_uc003nqy.3_5'Flank|DHX16_uc011dmo.2_Silent_p.S453S	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	513	Helicase ATP-binding.				RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						GATACCTGTAACTCGCCAGGT	0.517000														16			11		0	0	0.00244969	0	0
FAT1	2195	broad.mit.edu	37	4	187629536	187629536	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr4:187629536G>A	uc003izf.3	-	1	1634	c.1446C>T	c.(1444-1446)gtC>gtT	p.V482V	FAT1_uc010iso.1_Silent_p.V482V	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	482	Cadherin 4.			V -> I (in Ref. 1; CAA60685).	actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCAGGCTCATGACAGTAGTAC	0.463000										HNSCC(5;0.00058)				60			21		0	0	0.00188189	0	0
EOMES	8320	broad.mit.edu	37	3	27759079	27759079	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:27759079G>A	uc003cdy.3	-	5	1600	c.1600C>T	c.(1600-1602)Ccc>Tcc	p.P534S	EOMES_uc003cdx.3_Missense_Mutation_p.P515S|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Missense_Mutation_p.P239S	NM_005442	NP_005433	O95936	EOMES_HUMAN	Homo sapiens eomesodermin (EOMES), mRNA.	515					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.I533M(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						CACCGCTGGGGAGGGTTGGCC	0.522000														90			30		0	0	0.00058488	0	0
BRPF1	7862	broad.mit.edu	37	3	9781055	9781055	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:9781055C>T	uc003bse.3	+	2	1371	c.972C>T	c.(970-972)ccC>ccT	p.P324P	BRPF1_uc003bsf.3_Silent_p.P324P|BRPF1_uc003bsg.3_Silent_p.P324P|BRPF1_uc011ati.2_Silent_p.P324P	NM_004634	NP_004625	P55201	BRPF1_HUMAN	Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA.	324					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TGCAGTCACCCTCTCGTGCTG	0.622000														22			22		0	0	0.00188189	0	0
NRG3	10718	broad.mit.edu	37	10	84718705	84718705	+	Splice_Site	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:84718705G>A	uc021pvc.1	+	6	1185	c.1158_splice	c.e6-1	p.K386_splice	NRG3_uc010qlz.1_Splice_Site_p.K385_splice|NRG3_uc021pvb.1_Intron|NRG3_uc001kco.2_Splice_Site_p.K386_splice|NRG3_uc001kcp.2_Splice_Site_p.K165_splice|NRG3_uc001kcq.2_Splice_Site_p.K36_splice|NRG3_uc021pvd.1_Splice_Site_p.K165_splice|NRG3_uc021pve.1_Splice_Site_p.K190_splice|NRG3_uc021pvf.1_Splice_Site_p.K36_splice|NRG3_uc021pvg.1_Splice_Site_p.K190_splice|NRG3_uc021pvh.1_Splice_Site|NRG3_uc021pvi.1_Splice_Site_p.K216_splice|NRG3_uc021pvk.1_Splice_Site|NRG3_uc001kcr.2_Splice_Site_p.K36_splice|NRG3_uc021pvl.1_Splice_Site_p.K36_splice	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	386					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		ATGCCTGCAGGAAACAAGCTA	0.388000														26			9		0	0	0.000442599	0	0
RIMS2	9699	broad.mit.edu	37	8	105160846	105160846	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr8:105160846C>T	uc003yls.3	+	22	3399	c.3158C>T	c.(3157-3159)tCc>tTc	p.S1053F	RIMS2_uc003ylp.3_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.S1042F|RIMS2_uc003ylq.3_Intron|RIMS2_uc003ylr.3_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	485					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTCTTTACATCCAAAATGCAA	0.393000										HNSCC(12;0.0054)				10			4		0	0	0.00024832	0	0
DENND4B	9909	broad.mit.edu	37	1	153912080	153912080	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:153912080G>A	uc001fdd.1	-	11	2205	c.1804C>T	c.(1804-1806)Ctt>Ttt	p.L602F		NM_014856	NP_055671	O75064	DEN4B_HUMAN	Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.	602	dDENN.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGAAGAAAAGGTTGTCAACA	0.612000														74			31		0	0	0.00283554	0	0
CAP2	10486	broad.mit.edu	37	6	17507930	17507930	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr6:17507930A>G	uc003ncb.3	+	5	746	c.503A>G	c.(502-504)aAc>aGc	p.N168S	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.N142S|CAP2_uc011djb.2_Intron|CAP2_uc011djc.2_Intron|CAP2_uc011djd.2_Intron	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	168					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TTTTACACTAACAGGGTCTTA	0.418000														50			24		0	0	0.000720815	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508414	37508414	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:37508414G>A	uc021ppc.1	+	33	3705	c.3606G>A	c.(3604-3606)agG>agA	p.R1202R	ANKRD30A_uc001iza.1_Silent_p.R1202R	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1258						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAGCTCAAAGGAAATCCAAAA	0.368000														19			10		0	0	0.000442599	0	0
ANPEP	290	broad.mit.edu	37	15	90340813	90340813	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr15:90340813G>A	uc002bop.4	-	14	2442	c.2150C>T	c.(2149-2151)cCc>cTc	p.P717L		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	717	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TACCTTCATGGGGCCATAGAC	0.527000														58			26		0	0	0.000878237	0	0
ALS2	57679	broad.mit.edu	37	2	202626056	202626056	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:202626056G>A	uc002uyo.3	-	3	1017	c.661C>T	c.(661-663)Cct>Tct	p.P221S	ALS2_uc002uyp.4_Missense_Mutation_p.P221S|ALS2_uc002uyq.3_Missense_Mutation_p.P221S|ALS2_uc002uyr.3_Missense_Mutation_p.P221S	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	221					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TCCTGGGAAGGGAGGCATTGT	0.502000														34			10		0	0	0.00136819	0	0
MUC16	94025	broad.mit.edu	37	19	9060012	9060012	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr19:9060012G>A	uc002mkp.3	-	2	27638	c.27434C>T	c.(27433-27435)tCt>tTt	p.S9145F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9147	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGTGAGAAAGAGGCAGAGCT	0.493000														22			8		0	0	0.000157383	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885814	88885814	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr8:88885814G>A	uc003ydz.3	-	0	483	c.386C>T	c.(385-387)tCt>tTt	p.S129F		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	129								p.S129Y(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CCAGCACATAGAATTCACCTT	0.572000														26			12		0	0	0.000308642	0	0
FYB	2533	broad.mit.edu	37	5	39202037	39202037	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr5:39202037C>T	uc003jls.3	-	0	1093	c.1026G>A	c.(1024-1026)ccG>ccA	p.P342P	FYB_uc003jlt.3_Silent_p.P342P|FYB_uc003jlu.3_Silent_p.P342P|FYB_uc011cpl.2_Silent_p.P352P	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	342					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding	p.P342L(1)|p.P342S(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GCTTCTGTTTCGGGGTGGCTG	0.527000														26			11		0	0	0.000978159	0	0
GPR112	139378	broad.mit.edu	37	X	135426620	135426620	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chrX:135426620C>T	uc004ezu.1	+	5	1046	c.755C>T	c.(754-756)cCa>cTa	p.P252L	GPR112_uc010nsb.1_Missense_Mutation_p.P47L|GPR112_uc010nsc.1_Missense_Mutation_p.P19L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	252					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATGACCACTCCATCCCAAATT	0.323000														8			12		0	0	0.00244969	0	0
MUSK	4593	broad.mit.edu	37	9	113445027	113445027	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:113445027G>A	uc022blv.1	+	1	287	c.153G>A	c.(151-153)gtG>gtA	p.V51V	MUSK_uc022blt.1_Silent_p.V51V|MUSK_uc004bez.2_Silent_p.V51V|MUSK_uc022blu.1_Silent_p.V51V	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	51	Ig-like 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TGTGTGCAGTGGAATCCTACC	0.378000														28			18		0	0	0.00152264	0	0
GUCA2B	2981	broad.mit.edu	37	1	42620375	42620375	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:42620375G>A	uc001chc.1	+	1	145	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K		NM_007102	NP_009033	Q16661	GUC2B_HUMAN	Homo sapiens guanylate cyclase activator 2B (uroguanylin) (GUCA2B), mRNA.	39					excretion	extracellular region	calcium sensitive guanylate cyclase activator activity			breast(1)|large_intestine(2)	3	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGTCCAGCTGGAATCCATGAA	0.642000														25			12		0	0	0.000422831	0	0
ZNF135	7694	broad.mit.edu	37	19	58579313	58579313	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr19:58579313C>T	uc002qrg.3	+	3	1536	c.1533C>T	c.(1531-1533)atC>atT	p.I511I	ZNF135_uc002qre.3_Silent_p.I487I|ZNF135_uc002qrf.3_Silent_p.I445I|ZNF135_uc010yhq.2_Silent_p.I499I|ZNF135_uc010yhr.2_Silent_p.I308I|ZNF135_uc002qrd.2_Intron|ZNF135_uc021vcu.1_3'UTR	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	499					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		ACCAGCGAATCCACACAGGGG	0.572000														23			6		0	0	0.00116845	0	0
COL18A1	80781	broad.mit.edu	37	21	46876034	46876034	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr21:46876034C>T	uc002zhi.3	+	0	611	c.590C>T	c.(589-591)tCc>tTc	p.S197F	COL18A1_uc002zhg.3_Intron	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	437					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TCGCCTCCCTCCCTGGGCAGG	0.682000														39			12		0	0	0.00136819	0	0
DLGAP5	9787	broad.mit.edu	37	14	55655683	55655683	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr14:55655683G>A	uc001xbs.3	-	1	432	c.215C>T	c.(214-216)cCa>cTa	p.P72L	DLGAP5_uc001xbt.3_Missense_Mutation_p.P72L	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 5 (DLGAP5), transcript variant 1, mRNA.	72					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						GGTCTTTTCTGGAACAAGCCC	0.343000														22			9		0	0	0.000442599	0	0
UNC79	57578	broad.mit.edu	37	14	93954022	93954022	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr14:93954022G>A	uc001ybv.1	+	1	185	c.102G>A	c.(100-102)agG>agA	p.R34R	UNC79_uc001ybs.1_Silent_p.R34R|UNC79_uc001ybu.1_Silent_p.R34R	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	211						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCTCCTCAAGGAGAGAAGGTG	0.418000														74			18		0	0	0.00121646	0	0
OR6Q1	219952	broad.mit.edu	37	11	57798591	57798591	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:57798591G>A	uc010rjz.2	+	0	167	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	OR9Q1_uc001nmj.3_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TTGGACCACCGACTACGGAGA	0.478000														97			31		0	0	0.00058488	0	0
ZNF208	7757	broad.mit.edu	37	19	22157069	22157069	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr19:22157069G>A	uc021urr.1	-	3	916	c.767C>T	c.(766-768)tCc>tTc	p.S256F	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.									p.S256P(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACATTTGTAGGATTTCTCTCC	0.358000														16			7		0	0	0.00198382	0	0
FAM18A	780776	broad.mit.edu	37	16	10867224	10867224	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr16:10867224C>T	uc010buo.1	-	4	670	c.399G>A	c.(397-399)atG>atA	p.M133I	FAM18A_uc010uyr.1_Non-coding_Transcript|FAM18A_uc010uys.1_Non-coding_Transcript|FAM18A_uc010uyt.1_Non-coding_Transcript|FAM18A_uc010bun.2_Non-coding_Transcript|FAM18A_uc010uyu.1_Non-coding_Transcript|FAM18A_uc002dad.3_Non-coding_Transcript|FAM18A_uc002daf.1_Non-coding_Transcript|FAM18A_uc002dae.1_Missense_Mutation_p.M69I	NM_001079512	NP_001072980	A6NH52	FA18A_HUMAN	Homo sapiens family with sequence similarity 18, member A (FAM18A), mRNA.	133						integral to membrane				kidney(1)|lung(1)|upper_aerodigestive_tract(1)	3						CAATCCATATCATGGGGCAGA	0.423000														48			21		0	0	0.00152264	0	0
CLCA1	1179	broad.mit.edu	37	1	86959252	86959252	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:86959252G>A	uc001dlt.3	+	9	1910	c.1650G>A	c.(1648-1650)atG>atA	p.M550I	CLCA1_uc001dls.1_Missense_Mutation_p.M489I	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	550					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		ACACCAAAATGGCCTACCTCC	0.403000														33			14		0	0	0.000308642	0	0
ANK3	288	broad.mit.edu	37	10	61831464	61831464	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:61831464C>T	uc001jky.3	-	36	9513	c.9175G>A	c.(9175-9177)Gaa>Aaa	p.E3059K	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3059					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAGGGAGATTCCTTTCCTGGG	0.463000														54			23		0	0	0.00188189	0	0
GAPVD1	26130	broad.mit.edu	37	9	128099780	128099780	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:128099780C>T	uc004bpp.3	+	15	3028	c.2868C>T	c.(2866-2868)ctC>ctT	p.L956L	GAPVD1_uc011lzs.1_Silent_p.L929L|GAPVD1_uc004bpq.3_Silent_p.L929L|GAPVD1_uc010mwx.3_Silent_p.L929L|GAPVD1_uc004bpr.3_Silent_p.L908L|GAPVD1_uc004bps.3_Silent_p.L929L|GAPVD1_uc010mwy.1_Silent_p.L762L	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	929					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGCGAGAACTCCCTCCAGCTG	0.532000														29			16		0	0	0.000308642	0	0
FOXP1	27086	broad.mit.edu	37	3	71096118	71096118	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:71096118G>A	uc003dol.3	-	5	962	c.639C>T	c.(637-639)gcC>gcT	p.A213A	FOXP1_uc003dom.3_Silent_p.A137A|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Silent_p.A213A|FOXP1_uc003doo.3_Silent_p.A213A|FOXP1_uc003dop.3_Silent_p.A213A|FOXP1_uc021xao.1_Silent_p.A213A|FOXP1_uc003doq.1_Silent_p.A212A|FOXP1_uc003doi.3_Silent_p.A113A|FOXP1_uc003dok.3_Silent_p.A139A|FOXP1_uc003doj.3_Silent_p.A215A	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	213	Gln-rich.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GAAGGGGAAGGGCAGGCTGCC	0.517000			T	PAX5	ALL									81			40		0	0	0.000781405	0	0
NFATC4	4776	broad.mit.edu	37	14	24839398	24839398	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr14:24839398C>T	uc001wpc.3	+	1	1115	c.794C>T	c.(793-795)cCa>cTa	p.P265L	NFATC4_uc010alr.3_Missense_Mutation_p.P328L|NFATC4_uc010tok.2_Missense_Mutation_p.P328L|NFATC4_uc010tol.2_Missense_Mutation_p.P328L|NFATC4_uc010als.2_Missense_Mutation_p.P278L|NFATC4_uc010too.2_Missense_Mutation_p.P278L|NFATC4_uc010tom.2_Missense_Mutation_p.P278L|NFATC4_uc010ton.2_Missense_Mutation_p.P278L|NFATC4_uc010toq.2_Missense_Mutation_p.P297L|NFATC4_uc010alt.3_Missense_Mutation_p.P297L|NFATC4_uc010top.2_Missense_Mutation_p.P297L|NFATC4_uc010alu.3_Intron|NFATC4_uc010tor.2_Missense_Mutation_p.P265L|NFATC4_uc010tos.2_Missense_Mutation_p.P195L|NFATC4_uc010tot.2_Missense_Mutation_p.P253L|NFATC4_uc010tou.2_Missense_Mutation_p.P195L|NFATC4_uc010tov.2_Missense_Mutation_p.P253L|NFATC4_uc010tow.2_Missense_Mutation_p.P195L|NFATC4_uc010alv.3_Missense_Mutation_p.P253L|NFATC4_uc010tox.2_Missense_Mutation_p.P195L|NFATC4_uc001wpd.3_5'Flank|NFATC4_uc010toy.2_5'Flank|NFATC4_uc010toz.2_5'Flank	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	265	2 approximate SP repeats.|Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCTGCCTCTCCATGTGGCAAG	0.682000														10			4		0	0	0.000602214	0	0
GCN1L1	10985	broad.mit.edu	37	12	120585041	120585041	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:120585041G>A	uc001txo.3	-	37	4775	c.4762C>T	c.(4762-4764)Ccc>Tcc	p.P1588S		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1588					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCCTGGAGGGATCCGTCAGG	0.562000														14			5		0	0	0.000602214	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202910757	202910757	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:202910757G>A	uc001gyq.4	-	7	1339	c.1072C>T	c.(1072-1074)Ctt>Ttt	p.L358F	ADIPOR1_uc010pqd.2_Missense_Mutation_p.L282F|ADIPOR1_uc001gyr.4_Missense_Mutation_p.L157F|ADIPOR1_uc001gys.4_Missense_Mutation_p.L358F	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	Homo sapiens adiponectin receptor 1 (ADIPOR1), transcript variant 1, mRNA.	358					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			AATTCCTGAAGGTTGGAGACT	0.507000														45			12		0	0	0.00185496	0	0
COBL	23242	broad.mit.edu	37	7	51111163	51111163	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:51111163G>A	uc003tps.3	-	8	1679	c.1494C>T	c.(1492-1494)gaC>gaT	p.D498D	COBL_uc003tpr.4_Silent_p.D441D|COBL_uc011kcl.2_Silent_p.D441D|COBL_uc010kzc.3_Silent_p.D441D|COBL_uc003tpp.4_Silent_p.D227D|COBL_uc003tpq.4_Silent_p.D382D	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	441										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CGAGGTCCTGGTCACTGCAGT	0.562000														36			16		0	0	0.000422831	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118228749	118228749	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:118228749C>G	uc001lcl.4	+	8	1081	c.980C>G	c.(979-981)gCt>gGt	p.A327G		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	Homo sapiens pancreatic lipase-related protein 3 (PNLIPRP3), mRNA.	327					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		GGTCATTTTGCTGATAGATTT	0.348000														22			11		0	0	0.000978159	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48599379	48599379	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr17:48599379C>T	uc010wmr.2	+	9	1485	c.1323C>T	c.(1321-1323)ggC>ggT	p.G441G	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	404					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CTATTCTCGGCCCTTCTCTGC	0.517000														58			11		0	0	0.00136819	0	0
NUP155	9631	broad.mit.edu	37	5	37294509	37294509	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr5:37294509G>A	uc003jku.1	-	32	3970	c.3852C>T	c.(3850-3852)ttC>ttT	p.F1284F	NUP155_uc003jkt.1_Silent_p.F1225F|NUP155_uc010iuz.1_Silent_p.F1220F	NM_153485	NP_004289	O75694	NU155_HUMAN	Homo sapiens nucleoporin 155kDa (NUP155), transcript variant 1, mRNA.	1284					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTGTATTACGAAGCCCACAT	0.333000														21			10		0	0	0.000673444	0	0
PRR14L	253143	broad.mit.edu	37	22	32072955	32072955	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr22:32072955G>A	uc003alo.2	-	5	5682	c.5626C>T	c.(5626-5628)Ctg>Ttg	p.L1876L		NM_173566	NP_775837	Q5THK1	PR14L_HUMAN	Homo sapiens proline rich 14-like (PRR14L), mRNA.	2077										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						CCGAATACCAGGAAGTGCCCG	0.597000														13			4		0	0	0.00024832	0	0
NEURL3	93082	broad.mit.edu	37	2	97166168	97166168	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:97166168C>T	uc010yuo.2	-	1	593	c.522G>A	c.(520-522)gcG>gcA	p.A174A	NEURL3_uc010fhx.3_Intron|NEURL3_uc002swc.3_Intron					Homo sapiens neuralized homolog 3 (Drosophila) pseudogene (NEURL3), non-coding RNA.																		TCCCCATGGTCGCCTCACCCA	0.662000														9			4		0	0	0.000602214	0	0
NYAP1	222950	broad.mit.edu	37	7	100086079	100086079	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:100086079C>T	uc003uvd.1	+	3	894	c.735C>T	c.(733-735)acC>acT	p.T245T	NYAP1_uc003uve.1_Silent_p.T27T	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	245																	GGGGCCCGACCCCTCCAGCGG	0.642000														31			9		0	0	0.000442599	0	0
CTDSPL	10217	broad.mit.edu	37	3	38012933	38012933	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:38012933C>T	uc003chg.3	+	5	484	c.462C>T	c.(460-462)ttC>ttT	p.F154F	CTDSPL_uc003chh.3_Silent_p.F143F|DM119520_uc021wvh.1_5'Flank	NM_001008392	NP_001008393	O15194	CTDSL_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like (CTDSPL), transcript variant 1, mRNA.	154	FCP1 homology.					nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		TGGACGAGTTCCTCCAGAGGA	0.592000														18			6		0	0	0.00116845	0	0
CHL1	10752	broad.mit.edu	37	3	369855	369855	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:369855C>T	uc003bot.3	+	4	845	c.203C>T	c.(202-204)tCg>tTg	p.S68L	CHL1_uc003bou.3_Missense_Mutation_p.S68L|CHL1_uc003bow.2_Missense_Mutation_p.S68L|CHL1_uc011asi.2_Missense_Mutation_p.S68L	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	68	Ig-like C2-type 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.S68L(2)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTTAGATTTTCGTGGACTAAG	0.338000														28			22		0	0	0.00278032	0	0
PIGU	128869	broad.mit.edu	37	20	33173253	33173253	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr20:33173253G>C	uc002xas.3	-	8	1114	c.914C>G	c.(913-915)gCc>gGc	p.A305G	PIGU_uc010zul.2_Missense_Mutation_p.A305G|PIGU_uc002xat.3_Missense_Mutation_p.A285G|PIGU_uc010gev.1_Non-coding_Transcript	NM_080476	NP_536724	Q9H490	PIGU_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class U (PIGU), mRNA.	305					C-terminal protein lipidation|attachment of GPI anchor to protein|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						TAGCTTTATGGCTAAGGGGAT	0.483000														65			23		0	0	0.000586117	0	0
KIAA1244	57221	broad.mit.edu	37	6	138655193	138655193	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr6:138655193T>A	uc003qhu.3	+	32	5381	c.5210T>A	c.(5209-5211)gTc>gAc	p.V1737D		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	1737					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GAAGAGTTTGTCAAAGGCCCC	0.463000														20			12		0	0	0.00136819	0	0
BCAS3	54828	broad.mit.edu	37	17	58952089	58952089	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr17:58952089C>T	uc002iyv.4	+	8	760	c.651C>T	c.(649-651)ttC>ttT	p.F217F	BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.4_Silent_p.F217F|BCAS3_uc002iyw.4_Silent_p.F213F	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	217						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CGAAGAAATTCTTTGTTACAA	0.333000														31			10		0	0	0.000978159	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907791	164907791	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:164907791C>T	uc003fej.4	-	1	1272	c.828G>A	c.(826-828)agG>agA	p.R276R	SLITRK3_uc003fek.3_Silent_p.R276R|SLITRK3_uc021xgy.1_Silent_p.R276R	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	276	LRRCT 1.					integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GTTCTGTCTTCCTGATTTCTC	0.483000										HNSCC(40;0.11)				56			20		0	0	0.00229938	0	0
DNAH1	25981	broad.mit.edu	37	3	52416372	52416372	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:52416372G>A	uc011bef.2	+	49	8103	c.7842G>A	c.(7840-7842)aaG>aaA	p.K2614K	DNAH1_uc003ddv.3_5'Flank	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2614	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AACTATCCAAGAACTACGGCA	0.567000														45			23		0	0	0.00047179	0	0
SYCE1	93426	broad.mit.edu	37	10	135369309	135369309	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:135369309G>A	uc001lno.2	-	9	799	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C	CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.R104C|SYCE1_uc009ybn.2_Missense_Mutation_p.R232C|SYCE1_uc001lnn.2_Missense_Mutation_p.R196C	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN	Homo sapiens synaptonemal complex central element protein 1 (SYCE1), transcript variant 4, mRNA.	232					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TCCTGGCTGCGGAGAAAGAGT	0.637000														17			7		0	0	0.00198382	0	0
SEC16A	9919	broad.mit.edu	37	9	139370595	139370595	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:139370595G>A	uc004chx.3	-	2	1782	c.1473C>T	c.(1471-1473)ccC>ccT	p.P491P	SEC16A_uc004chv.4_Silent_p.P118P|SEC16A_uc004chw.3_Silent_p.P491P|SEC16A_uc010nbn.3_Silent_p.P491P|SEC16A_uc010nbo.1_Silent_p.P491P	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	313					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCCCAGGAAGGGGCCCATATC	0.552000														13			11		0	0	0.000673444	0	0
OR1J2	26740	broad.mit.edu	37	9	125273977	125273977	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:125273977G>A	uc011lyv.2	+	0	897	c.897G>A	c.(895-897)gaG>gaA	p.E299E	OR1J2_uc004bmj.2_Silent_p.E299E	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						ACATGAAAGAGGCCCTTGGGA	0.398000														48			12		0	0	0.00136819	0	0
IFIH1	64135	broad.mit.edu	37	2	163136531	163136531	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:163136531A>G	uc002uce.3	-	7	1838	c.1616T>C	c.(1615-1617)tTt>tCt	p.F539S		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	539					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TGCAATGGCAAACTTCTTGCA	0.343000														24			12		0	0	0.00185496	0	0
OTOGL	283310	broad.mit.edu	37	12	80658957	80658957	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:80658957C>T	uc001szd.3	+	18	2170	c.2164C>T	c.(2164-2166)Ccc>Tcc	p.P722S		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GCACGGTGTTCCCATTGATTT	0.468000														26			11		0	0	0.000978159	0	0
SCN2A	6326	broad.mit.edu	37	2	166221713	166221713	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:166221713G>A	uc002udc.3	+	17	3750	c.3460G>A	c.(3460-3462)Gga>Aga	p.G1154R	SCN2A_uc002udd.3_Missense_Mutation_p.G1154R|SCN2A_uc002ude.3_Missense_Mutation_p.G1154R	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1154					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TCCCGCCGAGGGAGAACAGCC	0.413000														38			16		0	0	0.00074312	0	0
C16orf89	146556	broad.mit.edu	37	16	5112557	5112557	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr16:5112557C>T	uc010bud.3	-	1	464	c.227G>A	c.(226-228)cGg>cAg	p.R76Q	ALG1_uc002cyj.3_Intron|C16orf89_uc002cyk.4_Missense_Mutation_p.R76Q	NM_152459	NP_689672	Q6UX73	CP089_HUMAN	Homo sapiens chromosome 16 open reading frame 89 (C16orf89), transcript variant 1, mRNA.	76						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						CCACTTCTCCCGGACACTTTT	0.542000														32			9		0	0	0.000978159	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140718670	140718670	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr5:140718670C>T	uc003ljk.2	+	0	317	c.132C>T	c.(130-132)ttC>ttT	p.F44F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.F44F	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	44	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGCTCCTTCGTAGGCAACA	0.602000											OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		15			9		0	0	0.000673444	0	0
LEPREL1	55214	broad.mit.edu	37	3	189689688	189689688	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:189689688C>T	uc011bsk.2	-	11	2196	c.1808G>A	c.(1807-1809)cGa>cAa	p.R603Q	LEPREL1_uc003fsg.3_Missense_Mutation_p.R422Q	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	603	Fe2OG dioxygenase.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	p.R603*(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCTATAGTCTCGAAATGTGTA	0.443000														26			5		0	0	0.00198382	0	0
PLCZ1	89869	broad.mit.edu	37	12	18854502	18854502	+	Splice_Site	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:18854502C>T	uc021qvx.1	-	9	1141	c.950_splice	c.e9-1	p.G317_splice	PLCZ1_uc001rdv.4_Splice_Site_p.G213_splice|PLCZ1_uc001rdw.4_Splice_Site_p.G58_splice|PLCZ1_uc001rdu.1_Missense_Mutation_p.G99E|PLCZ1_uc009zil.1_Splice_Site	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	317					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTGATTGTCTCCTAAAACAGA	0.433000														31			15		0	0	0.000422831	0	0
RBM48	84060	broad.mit.edu	37	7	92163784	92163784	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:92163784C>T	uc003uma.3	+	3	558	c.517C>T	c.(517-519)Cac>Tac	p.H173Y	RBM48_uc011khu.1_3'UTR|RBM48_uc003ulz.3_Missense_Mutation_p.H173Y			Q5RL73	CG064_HUMAN	Homo sapiens RNA binding motif protein 48 (RBM48), mRNA.	173							nucleotide binding										ACAAGACTTCCACTCAGAGAT	0.358000														22			10		0	0	0.000442599	0	0
FAM71B	153745	broad.mit.edu	37	5	156589736	156589736	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr5:156589736C>T	uc003lwn.3	-	1	1640	c.1540G>A	c.(1540-1542)Gaa>Aaa	p.E514K		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	514						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCCCCAGTTCCTGAGTTGTT	0.498000														229			125		0	0	0.000781405	0	0
DNAJC11	55735	broad.mit.edu	37	1	6698406	6698406	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:6698406C>T	uc001aof.2	-	11	1378	c.1272G>A	c.(1270-1272)agG>agA	p.R424R	DNAJC11_uc001aog.2_Silent_p.R372R|DNAJC11_uc010nzu.1_Silent_p.R334R	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.	424					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCGCTTTCCCTCTGCTTCT	0.642000														22			8		0	0	0.000157383	0	0
COL13A1	1305	broad.mit.edu	37	10	71690276	71690276	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:71690276G>A	uc001jql.3	+	28	2154	c.1618G>A	c.(1618-1620)Gaa>Aaa	p.E540K	COL13A1_uc021prz.1_Missense_Mutation_p.E518K|COL13A1_uc021psa.1_Missense_Mutation_p.E483K|COL13A1_uc021psb.1_Missense_Mutation_p.E489K|COL13A1_uc001jqk.2_Missense_Mutation_p.E518K|COL13A1_uc021psc.1_Missense_Mutation_p.E521K|COL13A1_uc021psd.1_Missense_Mutation_p.E518K|COL13A1_uc010qjf.2_Missense_Mutation_p.E483K|COL13A1_uc021pse.1_Missense_Mutation_p.E489K|COL13A1_uc021psf.1_Missense_Mutation_p.E540K|COL13A1_uc021psg.1_Missense_Mutation_p.E518K|COL13A1_uc021psh.1_Missense_Mutation_p.E521K	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	540	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	AGAGAAGGGGGAAAAAGGGGA	0.632000														12			5		0	0	0.000602214	0	0
PLCD3	113026	broad.mit.edu	37	17	43194006	43194006	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr17:43194006G>A	uc002iib.3	-	7	1520	c.1406C>T	c.(1405-1407)tCc>tTc	p.S469F		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	Homo sapiens phospholipase C, delta 3 (PLCD3), mRNA.	469	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	CACCTCTGGGGATGGCAGCTC	0.692000														24			14		0	0	0.000422831	0	0
LRBA	987	broad.mit.edu	37	4	151242429	151242429	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr4:151242429T>C	uc010ipj.3	-	50	7821	c.7577A>G	c.(7576-7578)aAc>aGc	p.N2526S	LRBA_uc010ipi.3_Missense_Mutation_p.N48S|LRBA_uc003ils.4_Missense_Mutation_p.N421S|LRBA_uc003ilt.4_Missense_Mutation_p.N1174S|LRBA_uc003ilu.4_Missense_Mutation_p.N2515S	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2526						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGGCTGGGTGTTGGCTGCCAC	0.498000														50			14		0	0	0.000308642	0	0
UBL7	84993	broad.mit.edu	37	15	74742300	74742300	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr15:74742300G>A	uc002axw.1	-	6	803	c.641C>T	c.(640-642)tCc>tTc	p.S214F	UBL7_uc002axx.1_Missense_Mutation_p.S254F|UBL7_uc002axy.1_Missense_Mutation_p.S214F|UBL7_uc002axz.1_Missense_Mutation_p.S214F	NM_032907	NP_957717	Q96S82	UBL7_HUMAN	Homo sapiens ubiquitin-like 7 (bone marrow stromal cell-derived) (UBL7), transcript variant 1, mRNA.	214							protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GTATGAGCTGGAGGGCATGCT	0.592000														14			6		0	0	0.000274275	0	0
ROBO1	6091	broad.mit.edu	37	3	78663874	78663874	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:78663874G>A	uc003dqe.2	-	27	4567	c.4359C>T	c.(4357-4359)gcC>gcT	p.A1453A	ROBO1_uc003dqc.2_Silent_p.A1353A|ROBO1_uc003dqd.2_Silent_p.A1408A|ROBO1_uc003dqb.2_Silent_p.A1414A|ROBO1_uc010hoh.2_Silent_p.A645A|ROBO1_uc011bgl.1_Silent_p.A1025A	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	1453					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding	p.A1430A(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TCTGCATTACGGCGGCACTCA	0.488000														15			6		0	0	0.00198382	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37546850	37546850	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr20:37546850C>T	uc002xje.3	+	10	1434	c.1245C>T	c.(1243-1245)atC>atT	p.I415I	PPP1R16B_uc010ggc.3_Silent_p.I373I	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	415					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CTACCAAGATCCCACGAGGTG	0.567000														102			37		0	0	0.000814825	0	0
JRKL	8690	broad.mit.edu	37	11	96124980	96124980	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:96124980C>T	uc009ywu.3	+	1	1419	c.1167C>T	c.(1165-1167)ctC>ctT	p.L389L	JRKL_uc021qpa.1_Intron|CCDC82_uc001pfx.4_5'Flank|CCDC82_uc009ywr.3_5'Flank|CCDC82_uc009ywt.1_5'Flank|JRKL_uc001pfy.2_Silent_p.L389L	NM_003772	NP_003763	Q9Y4A0	JERKL_HUMAN	Homo sapiens jerky homolog-like (mouse) (JRKL), mRNA.	389					central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		AGAAGATTCTCCCTATGGTAG	0.413000														47			21		0	0	0.00278032	0	0
SOAT2	8435	broad.mit.edu	37	12	53499791	53499791	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:53499791G>A	uc001sbv.3	+	4	524	c.436G>A	c.(436-438)Gag>Aag	p.E146K	SOAT2_uc009zms.3_Non-coding_Transcript	NM_003578	NP_003569	O75908	SOAT2_HUMAN	Homo sapiens sterol O-acyltransferase 2 (SOAT2), mRNA.	146					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						CTTCATTGATGAGGGCAGGTA	0.577000														18			10		0	0	0.000673444	0	0
LAMB4	22798	broad.mit.edu	37	7	107707021	107707021	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:107707021G>A	uc010ljo.1	-	19	2555	c.2471C>T	c.(2470-2472)tCa>tTa	p.S824L	LAMB4_uc003vey.2_Missense_Mutation_p.S824L|LAMB4_uc010ljp.1_5'Flank	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	824	Laminin EGF-like 7.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AGTGTCCTTTGATCCTTGAGG	0.532000														9			6		0	0	0.00116845	0	0
DCC	1630	broad.mit.edu	37	18	51025841	51025841	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr18:51025841G>A	uc002lfe.2	+	26	4688	c.4072G>A	c.(4072-4074)Gaa>Aaa	p.E1358K	DCC_uc010dpf.2_Missense_Mutation_p.E991K	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1358					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GAGTGCAATAGAACCGAAAGT	0.458000														70			17		0	0	0.000566183	0	0
SERPINB6	5269	broad.mit.edu	37	6	2953382	2953382	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr6:2953382G>A	uc003muk.3	-	3	2464	c.469C>T	c.(469-471)Cca>Tca	p.P157S	SERPINB6_uc003mui.3_Missense_Mutation_p.P40S|SERPINB6_uc003muj.3_Non-coding_Transcript|SERPINB6_uc003mul.3_Missense_Mutation_p.P157S|SERPINB6_uc003mum.3_Missense_Mutation_p.P157S|SERPINB6_uc003mun.3_Missense_Mutation_p.P157S|SERPINB6_uc003muo.3_Missense_Mutation_p.P157S	NM_004568	NP_004559	P35237	SPB6_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 6 (SERPINB6), transcript variant 1, mRNA.	157					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	CTTGTCAATGGATCCACTGAG	0.507000											OREG0017145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		161			57		0	0	0.000781405	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324085	61324085	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr18:61324085C>T	uc002lji.3	-	6	892	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	SERPINB3_uc002ljg.3_Missense_Mutation_p.E250K|SERPINB3_uc010dqa.3_Intron	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	250					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CCATCGATTTCATTTGGCAGC	0.413000														68			23		0	0	0.000586117	0	0
PTPN9	5780	broad.mit.edu	37	15	75798234	75798234	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr15:75798234G>A	uc002bal.3	-	6	1258	c.750C>T	c.(748-750)ttC>ttT	p.F250F		NM_002833	NP_002824	P43378	PTN9_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 9 (PTPN9), mRNA.	250						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGGGGTAGGAACTGGAAAT	0.537000														21			12		0	0	0.00185496	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125530530	125530530	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:125530530G>A	uc010flu.3	+	16	3052	c.2688G>A	c.(2686-2688)agG>agA	p.R896R	CNTNAP5_uc002tno.3_Silent_p.R895R	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	895	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACCTTCCAAGGAGCACCAGGG	0.532000														69			22		0	0	0.000720815	0	0
EMR1	2015	broad.mit.edu	37	19	6896500	6896500	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr19:6896500C>T	uc002mfw.3	+	2	224	c.186C>T	c.(184-186)ttC>ttT	p.F62F	EMR1_uc010dvc.3_Silent_p.F62F|EMR1_uc010dvb.3_Silent_p.F62F|EMR1_uc010xji.2_Silent_p.F62F|EMR1_uc010xjj.2_Silent_p.F62F	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	62	EGF-like 1.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					AACAAGGCTTCCTGTCCAGCA	0.473000														26			20		0	0	0.00121646	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161022551	161022551	+	Missense_Mutation	SNP	C	T	T	rs140780168		TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:161022551C>T	uc001fxl.3	-	6	1047	c.701G>A	c.(700-702)gGg>gAg	p.G234E	ARHGAP30_uc001fxk.3_Missense_Mutation_p.G234E|ARHGAP30_uc001fxm.3_Missense_Mutation_p.G80E|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_Missense_Mutation_p.G80E	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	234					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TGCCCGGGTCCCTGGAAGCGA	0.617000														25			7		0	0	0.000442599	0	0
KSR2	283455	broad.mit.edu	37	12	117962701	117962701	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:117962701G>A	uc001two.2	-	13	2143	c.2088C>T	c.(2086-2088)ttC>ttT	p.F696F		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	725	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGCACCCATGAAAAGCACCA	0.577000														20			6		0	0	0.00116845	0	0
MYH2	4620	broad.mit.edu	37	17	10428305	10428305	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr17:10428305C>T	uc010coi.3	-	33	4868	c.4740G>A	c.(4738-4740)agG>agA	p.R1580R	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.R1580R|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.	1580					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.D1579H(1)		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						CAGCAATTTTCCTATCAACCT	0.453000														39			23		0	0	0.00047179	0	0
TIE1	7075	broad.mit.edu	37	1	43772651	43772651	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:43772651C>T	uc001ciu.3	+	3	802	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	TIE1_uc010okd.2_Missense_Mutation_p.R209W|TIE1_uc010oke.2_Missense_Mutation_p.R164W|TIE1_uc009vwq.3_Missense_Mutation_p.R209W|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.2_5'Flank|TIE1_uc010okb.2_Missense_Mutation_p.R209W|TIE1_uc010okc.2_Missense_Mutation_p.R209W	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	209					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGCCTTCTTTCGGCTCATCGT	0.647000														34			9		0	0	0.000673444	0	0
XIRP1	165904	broad.mit.edu	37	3	39226150	39226150	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:39226150G>A	uc003cjk.2	-	1	5016	c.4787C>T	c.(4786-4788)cCc>cTc	p.P1596L	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.P279L|XIRP1_uc021wvz.1_Missense_Mutation_p.P1596L	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1596							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGAGCCACTGGGCCTGGCGCT	0.567000														88			47		0	0	0.000781405	0	0
HRNR	388697	broad.mit.edu	37	1	152192185	152192185	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:152192185G>A	uc001ezt.1	-	2	1996	c.1920C>T	c.(1918-1920)ggC>ggT	p.G640G		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	640					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGAGCCAGAGCCATGCTGAC	0.572000														168			52		0	0	0.000781405	0	0
CWC25	54883	broad.mit.edu	37	17	36958426	36958426	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr17:36958426G>A	uc002hqu.3	-	9	1350	c.1197C>T	c.(1195-1197)tcC>tcT	p.S399S	CWC25_uc010wdv.2_Silent_p.S336S|PIP4K2B_uc002hqs.3_5'Flank|PIP4K2B_uc021twj.1_5'Flank	NM_017748	NP_060218	Q9NXE8	CWC25_HUMAN	Homo sapiens CWC25 spliceosome-associated protein homolog (S. cerevisiae) (CWC25), mRNA.	399										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						GATCCTCCAGGGAGGAAGTAG	0.438000														23			9		0	0	0.000274275	0	0
COL6A2	1292	broad.mit.edu	37	21	47531410	47531410	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr21:47531410C>T	uc002zia.1	+	1	102	c.20C>T	c.(19-21)tCc>tTc	p.S7F	COL6A2_uc002zhz.1_Missense_Mutation_p.S7F|COL6A2_uc002zhy.1_Missense_Mutation_p.S7F	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	7					axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGCACCTGCTCCGTGCTCCTG	0.657000														18			10		0	0	0.000978159	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76482664	76482664	+	Splice_Site	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr16:76482664G>A	uc002fex.1	+	5	891	c.752_splice	c.e5-1	p.G251_splice	CNTNAP4_uc002feu.1_Splice_Site_p.G247_splice|CNTNAP4_uc002fev.1_Splice_Site_p.G160_splice|CNTNAP4_uc010chb.1_Splice_Site_p.G223_splice|CNTNAP4_uc002few.2_Splice_Site_p.G223_splice	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	248	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CTCTTCTAAGGTGAAGCTAAA	0.443000														6			3		0	0	6.4e-05	0	0
TMEM132B	114795	broad.mit.edu	37	12	126135483	126135483	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:126135483G>A	uc001uhe.1	+	6	1891	c.1883G>A	c.(1882-1884)gGa>gAa	p.G628E	TMEM132B_uc001uhf.1_Missense_Mutation_p.G140E	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	628						integral to membrane		p.P627P(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CGGGAGCCGGGAATAACCACG	0.562000														18			5		0	0	0.000157383	0	0
LMO2	4005	broad.mit.edu	37	11	33881008	33881008	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:33881008G>A	uc001mve.3	-	2	810	c.371C>T	c.(370-372)gCc>gTc	p.A124V	LMO2_uc001mvc.3_Missense_Mutation_p.A117V|LMO2_uc001mvd.3_Missense_Mutation_p.A117V|LMO2_uc010rel.2_Missense_Mutation_p.A124V|LMO2_uc010rem.2_Missense_Mutation_p.A193V	NM_001142316	NP_001135788	P25791	RBTN2_HUMAN	Homo sapiens LIM domain only 2 (rhombotin-like 1) (LMO2), transcript variant 3, mRNA.	124	LIM zinc-binding 2.				multicellular organismal development	nucleus	protein binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						CTTCTGACAGGCGGCGCATTT	0.488000			T	TRD@	T-ALL									25			12		0	0	0.00185496	0	0
PALLD	23022	broad.mit.edu	37	4	169604158	169604158	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr4:169604158G>A	uc011cjx.2	+	4	1375	c.1164G>A	c.(1162-1164)aaG>aaA	p.K388K	PALLD_uc003iru.3_Silent_p.K388K|PALLD_uc003irv.3_Silent_p.K6K	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	388					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GAGCTCAAAAGAAAACAACTT	0.368000									Pancreatic Cancer, Familial Clustering of					22			6		0	0	0.00116845	0	0
GSTA5	221357	broad.mit.edu	37	6	52697667	52697667	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr6:52697667G>A	uc003pba.1	-	5	606	c.536C>T	c.(535-537)cCt>cTt	p.P179L		NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN	Homo sapiens glutathione S-transferase alpha 5 (GSTA5), mRNA.	179	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	p.P179H(2)		endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	CTTCAGCAGAGGGAAGCTGGA	0.517000														48			12		0	0	0.00185496	0	0
KCNT2	343450	broad.mit.edu	37	1	196197368	196197368	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:196197368C>T	uc001gtd.1	-	27	3454	c.3394G>A	c.(3394-3396)Gaa>Aaa	p.E1132K	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.E1065K|KCNT2_uc001gtf.1_Missense_Mutation_p.E1108K|KCNT2_uc001gtg.1_Non-coding_Transcript	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	1132						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AGTTGAGTTTCCTCCCGAGAA	0.403000														23			13		0	0	0.00185496	0	0
KCNH1	3756	broad.mit.edu	37	1	210857348	210857348	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:210857348C>T	uc001hib.2	-	10	2415	c.2245G>A	c.(2245-2247)Gag>Aag	p.E749K	KCNH1_uc001hic.2_Missense_Mutation_p.E722K	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	749	Calmodulin-binding.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AGCCTGGCCTCTTTCTGCTGT	0.597000														25			9		0	0	0.000442599	0	0
RAD23B	5887	broad.mit.edu	37	9	110086177	110086177	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:110086177C>T	uc004bde.3	+	7	1218	c.824C>T	c.(823-825)cCc>cTc	p.P275L	RAD23B_uc011lwa.2_Missense_Mutation_p.P275L|RAD23B_uc022blj.1_Missense_Mutation_p.P203L|RAD23B_uc011lwb.2_Missense_Mutation_p.P254L	NM_002874	NP_002865	P54727	RD23B_HUMAN	Homo sapiens RAD23 homolog B (S. cerevisiae) (RAD23B), transcript variant 1, mRNA.	275	STI1.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	XPC complex|cytoplasm|nucleoplasm|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TTAGGACATCCCCTTGAATTT	0.353000								Direct reversal of damage;Nucleotide excision repair (NER)						29			15		0	0	0.000422831	0	0
OR4S2	219431	broad.mit.edu	37	11	55419023	55419023	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:55419023C>T	uc001nhs.1	+	0	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TTGCTAATCTCCTACAGCATC	0.483000														76			25		0	0	0.00047179	0	0
KCNB2	9312	broad.mit.edu	37	8	73849489	73849489	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr8:73849489C>T	uc003xzb.3	+	2	2487	c.1899C>T	c.(1897-1899)ttC>ttT	p.F633F		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	633					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGATGAAGTTCCCAACCGACC	0.607000														55			17		0	0	0.00074312	0	0
ADAM7	8756	broad.mit.edu	37	8	24333986	24333986	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr8:24333986G>A	uc003xeb.3	+	7	787	c.674G>A	c.(673-675)cGa>cAa	p.R225Q	ADAM7_uc003xec.3_5'UTR	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	225	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.R225Q(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CTAAGGAACCGAATTTGGGGA	0.333000														24			16		0	0	0.00121646	0	0
JHDM1D	80853	broad.mit.edu	37	7	139824437	139824437	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:139824437G>A	uc003vvm.3	-	6	1039	c.1035C>T	c.(1033-1035)acC>acT	p.T345T		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	345	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GAACAAATAAGGTATGTCCCT	0.413000														14			11		0	0	0.00136819	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373303	86373303	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:86373303G>A	uc010sum.2	-	5	1432	c.1273C>T	c.(1273-1275)Cgg>Tgg	p.R425W	MGAT4C_uc001tal.4_Missense_Mutation_p.R401W|MGAT4C_uc001taj.4_Missense_Mutation_p.R401W|MGAT4C_uc001tak.4_Missense_Mutation_p.R401W|MGAT4C_uc001tai.4_Missense_Mutation_p.R401W|MGAT4C_uc001tah.4_Missense_Mutation_p.R401W	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	401					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TCATTTTGCCGATCTTCTGTT	0.348000														26			6		0	0	0.000157383	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33593574	33593574	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr20:33593574G>A	uc002xbk.3	-	15	1894	c.1860C>T	c.(1858-1860)tcC>tcT	p.S620S	TRPC4AP_uc002xbj.3_Non-coding_Transcript|TRPC4AP_uc010zuq.2_Silent_p.S211S|TRPC4AP_uc010zur.2_Silent_p.S581S|TRPC4AP_uc002xbl.3_Silent_p.S612S	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 associated protein (TRPC4AP), transcript variant 1, mRNA.	620					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGTCCACCAGGGAGCTGTTGA	0.547000														44			16		0	0	0.000566183	0	0
KRT8	3856	broad.mit.edu	37	12	53295761	53295761	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:53295761G>A	uc009zmk.1	-	2	524	c.504C>T	c.(502-504)ttC>ttT	p.F168F	KRT8_uc001sbd.2_Silent_p.F140F|KRT8_uc009zml.1_Silent_p.F140F|KRT8_uc009zmm.1_Silent_p.F140F	NM_002273	NP_002264	P05787	K2C8_HUMAN	Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA.	140	Coil 1B.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTAGCTCTCGAACATGTTGT	0.572000														26			12		0	0	0.000978159	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73933934	73933934	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:73933934C>T	uc003uaq.3	+	5	1194	c.801C>T	c.(799-801)atC>atT	p.I267I	GTF2IRD1_uc010lbq.3_Silent_p.I299I|GTF2IRD1_uc003uap.3_Silent_p.I267I|GTF2IRD1_uc003uar.1_Silent_p.I267I	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	267						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.A266T(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ACCACGCCATCCGAGAGCTCA	0.692000														24			9		0	0	0.000274275	0	0
TMEM169	92691	broad.mit.edu	37	2	216965155	216965155	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:216965155C>T	uc010zjr.2	+	3	1110	c.784C>T	c.(784-786)Ctg>Ttg	p.L262L	TMEM169_uc010zjs.2_Silent_p.L262L|TMEM169_uc002vfw.3_Silent_p.L262L|TMEM169_uc002vfv.4_Silent_p.L262L	NM_001142310	NP_612399	Q96HH4	TM169_HUMAN	Homo sapiens transmembrane protein 169 (TMEM169), transcript variant 1, mRNA.	262						integral to membrane		p.L262L(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAAGCTGGGTCTGGAGGACTG	0.557000														66			21		0	0	0.00229938	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19432991	19432991	+	RNA	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr13:19432991C>T	uc010tcj.1	-	0		c.13119G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GGCAATGAATCCACACACAGT	0.353000														44			6		0	0	0.00116845	0	0
DENND1A	57706	broad.mit.edu	37	9	126319882	126319882	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:126319882G>A	uc011lzm.1	-	10	1078	c.864C>T	c.(862-864)ttC>ttT	p.F288F	DENND1A_uc011lzl.1_Intron|DENND1A_uc004bny.1_Silent_p.F137F|DENND1A_uc004bnz.1_Silent_p.F320F|DENND1A_uc004boa.1_Silent_p.F320F|DENND1A_uc004bob.1_Silent_p.F290F|DENND1A_uc004boc.3_Silent_p.F288F	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA.	320						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GGTAGCTACCGAAGAAAGCAG	0.552000														13			7		0	0	0.00198382	0	0
ZNF479	90827	broad.mit.edu	37	7	57187738	57187738	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:57187738C>T	uc010kzo.3	-	4	1655	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TAGGGTCTCTCTCCAGTATGA	0.423000														51			10		0	0	0.000978159	0	0
SETD8	387893	broad.mit.edu	37	12	123892065	123892065	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:123892065C>T	uc001uew.3	+	7	916	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C		NM_020382	NP_065115	Q9NQR1	SETD8_HUMAN	Homo sapiens SET domain containing (lysine methyltransferase) 8 (SETD8), mRNA.	333	SET.				cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		AGAGACAAATCGCCTAGGAAG	0.512000														25			13		0	0	0.00185496	0	0
KIF19	124602	broad.mit.edu	37	17	72340379	72340379	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr17:72340379C>T	uc002jkm.4	+	5	612	c.474C>T	c.(472-474)atC>atT	p.I158I	KIF19_uc002jkj.2_Silent_p.I158I|KIF19_uc002jkk.2_Intron|KIF19_uc002jkl.2_Intron	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	158	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						ATGAGATGATCCGGGACCTGC	0.617000														18			9		0	0	0.000442599	0	0
SCN3A	6328	broad.mit.edu	37	2	165950892	165950892	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:165950892G>A	uc002ucx.3	-	25	5020	c.4528C>T	c.(4528-4530)Cgc>Tgc	p.R1510C	SCN3A_uc010zcy.2_5'Flank|SCN3A_uc002ucy.3_Missense_Mutation_p.R1461C|SCN3A_uc002ucz.3_Missense_Mutation_p.R1461C	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1510						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ACTGCTGGGCGAGGTATGGGT	0.393000														192			65		0	0	0.000781405	0	0
ZFP91	80829	broad.mit.edu	37	11	58379782	58379782	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:58379782C>T	uc001nmx.4	+	6	1057	c.889C>T	c.(889-891)Cca>Tca	p.P297S	ZFP91_uc001nmy.4_Missense_Mutation_p.P296S|CNTF_uc010rkm.2_Non-coding_Transcript	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	Homo sapiens zinc finger protein 91 homolog (mouse) (ZFP91), transcript variant 1, mRNA.	297					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TGACAAAAGTCCACGTTTACC	0.393000														11			9		0	0	0.000978159	0	0
CIB4	130106	broad.mit.edu	37	2	26852339	26852339	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:26852339C>T	uc002rhm.3	-	2	154	c.125G>A	c.(124-126)gGg>gAg	p.G42E		NM_001029881	NP_001025052	A0PJX0	CIB4_HUMAN	Homo sapiens calcium and integrin binding family member 4 (CIB4), mRNA.	42							calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTAGTACTTCCCAGGAGGGCA	0.612000														8			3		0	0	0.00024832	0	0
AAAS	8086	broad.mit.edu	37	12	53709124	53709124	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:53709124G>A	uc001scr.4	-	3	557	c.394C>T	c.(394-396)Ctg>Ttg	p.L132L	AAAS_uc001scs.4_Silent_p.L132L	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	Homo sapiens achalasia, adrenocortical insufficiency, alacrimia (AAAS), transcript variant 1, mRNA.	132					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CTTACAGACAGATGGGGGAAC	0.582000														17			5		0	0	0.000602214	0	0
DBC1	1620	broad.mit.edu	37	9	121929767	121929767	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:121929767G>A	uc004bkc.2	-	7	2337	c.1881C>T	c.(1879-1881)acC>acT	p.T627T		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	627					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TTCGCAGTAGGGTAGGTAGCC	0.532000														70			27		0	0	0.00106085	0	0
KRTAP10-11	386678	broad.mit.edu	37	21	46066500	46066500	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr21:46066500C>T	uc002zfr.4	+	0	170	c.125C>T	c.(124-126)tCc>tTc	p.S42F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198692	NP_941965	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA.	42	25 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CCGGCCCCCTCCCTGAGCCTG	0.706000														25			10		0	0	0.000978159	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681488	44681488	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr22:44681488C>T	uc003bet.2	-	3	552	c.419G>A	c.(418-420)cGa>cAa	p.R140Q		NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN	Homo sapiens KIAA1644 (KIAA1644), mRNA.	140						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				TTTCATCCATCGTCCTTGGAT	0.637000														52			22		0	0	0.00188189	0	0
POT1	25913	broad.mit.edu	37	7	124503687	124503687	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:124503687A>G	uc003vlm.3	-	7	864	c.263T>C	c.(262-264)gTa>gCa	p.V88A	POT1_uc011koe.2_Non-coding_Transcript|POT1_uc003vlk.3_Non-coding_Transcript|POT1_uc003vll.3_Non-coding_Transcript|POT1_uc003vln.3_Non-coding_Transcript|POT1_uc003vlo.3_5'UTR	NM_015450	NP_001036059	Q9NUX5	POTE1_HUMAN	Homo sapiens protection of telomeres 1 homolog (S. pombe) (POT1), transcript variant 1, mRNA.	88					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CTTTTTATATACTTGAATCTA	0.398000														32			12		0	0	0.000308642	0	0
ZNF347	84671	broad.mit.edu	37	19	53645692	53645692	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr19:53645692G>A	uc002qbc.2	-	4	819	c.392C>T	c.(391-393)tCc>tTc	p.S131F	ZNF347_uc002qbb.2_Missense_Mutation_p.S130F|ZNF347_uc010eql.2_Missense_Mutation_p.S131F	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TTCCCTGAAGGAACATCCTTC	0.403000														36			14		0	0	0.00185496	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793311	65793311	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:65793311G>A	uc001ogt.3	-	0	678	c.540C>T	c.(538-540)ctC>ctT	p.L180L		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	180	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GTCCATGGGGGAGGTAGGACC	0.592000														34			7		0	0	0.000274275	0	0
OR6C1	390321	broad.mit.edu	37	12	55715321	55715321	+	Splice_Site	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:55715321G>A	uc010spi.2	+	1	939	c.939_splice	c.e1+1	p.*313_splice		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						ACAAGCACATGAAATGGTATG	0.403000														41			12		0	0	0.000978159	0	0
OR5W2	390148	broad.mit.edu	37	11	55681877	55681877	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:55681877A>T	uc010rir.2	-	0	182	c.182T>A	c.(181-183)tTc>tAc	p.F61Y		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y60C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ACTGAGGAAGAAATACATTGG	0.383000														29			11		0	0	0.000673444	0	0
CLCN5	1184	broad.mit.edu	37	X	49846336	49846336	+	Nonsense_Mutation	SNP	T	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chrX:49846336T>A	uc004dos.1	+	5	803	c.555T>A	c.(553-555)taT>taA	p.Y185*	CLCN5_uc004dor.1_Nonsense_Mutation_p.Y255*|CLCN5_uc004doq.1_Nonsense_Mutation_p.Y255*|CLCN5_uc004dot.1_Nonsense_Mutation_p.Y185*	NM_000084	NP_000075	P51795	CLCN5_HUMAN	Homo sapiens chloride channel 5 (CLCN5), transcript variant 3, mRNA.	185					excretion	Golgi membrane|apical part of cell|endosome membrane|integral to plasma membrane	ATP binding|antiporter activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TTAGGGGCTATTTGGGTAAGT	0.448000														24			13		0	0	0.000308642	0	0
ZNF777	27153	broad.mit.edu	37	7	149128998	149128998	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:149128998G>A	uc003wfv.3	-	5	2528	c.2365C>T	c.(2365-2367)Cag>Tag	p.Q789*		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGATGCTTCTGCGTGAAGCGC	0.667000														19			9		0	0	0.000274275	0	0
SLC35F3	148641	broad.mit.edu	37	1	234367384	234367384	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:234367384C>T	uc001hvy.1	+	2	650	c.505C>T	c.(505-507)Ctc>Ttc	p.L169F	SLC35F3_uc001hwa.1_Missense_Mutation_p.L100F	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	100					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GCCCTTCACCCTCACGTGGTT	0.592000														79			22		0	0	0.00188189	0	0
OR8U8	504189	broad.mit.edu	37	11	56143652	56143652	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:56143652C>T	uc001nit.2	+	0	553	c.553C>T	c.(553-555)Ctc>Ttc	p.L185F		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										CATGCCTCTCCTCAGGCTAAC	0.463000														126			25		0	0	0.001512	0	0
XIRP2	129446	broad.mit.edu	37	2	168110563	168110563	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:168110563G>A	uc002udx.3	+	9	10666	c.10577G>A	c.(10576-10578)gGa>gAa	p.G3526E	XIRP2_uc010fpn.3_Missense_Mutation_p.E433K|XIRP2_uc010fpo.3_Missense_Mutation_p.E400K|XIRP2_uc010fpq.3_Missense_Mutation_p.G3304E|XIRP2_uc010fpr.3_Missense_Mutation_p.E178K	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3351					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						CCAAGACAAGGAAATATGTAT	0.348000														38			6		0	0	0.000274275	0	0
KCND3	3752	broad.mit.edu	37	1	112329604	112329604	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:112329604G>A	uc001ebu.1	-	2	1711	c.1231C>T	c.(1231-1233)Cac>Tac	p.H411Y	KCND3_uc001ebv.1_Missense_Mutation_p.H411Y	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	411						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TGATTCTGGTGGTAAATCCGG	0.557000														45			15		0	0	0.000422831	0	0
SCN3B	55800	broad.mit.edu	37	11	123509025	123509025	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:123509025C>T	uc001pza.1	-	4	860	c.453G>A	c.(451-453)gaG>gaA	p.E151E	SCN3B_uc001pzb.1_Silent_p.E151E	NM_001040151	NP_060870	Q9NY72	SCN3B_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA.	151	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	p.G150E(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		AGGTGAAGTCCTCTCCAGCTG	0.418000														21			11		0	0	0.000978159	0	0
PCSK1	5122	broad.mit.edu	37	5	95734621	95734621	+	Missense_Mutation	SNP	C	T	T	rs149124467		TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr5:95734621C>T	uc003kls.2	-	10	1789	c.1550G>A	c.(1549-1551)cGa>cAa	p.R517Q	PCSK1_uc010jbi.2_Missense_Mutation_p.R207Q|PCSK1_uc021ybq.1_Missense_Mutation_p.R470Q	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	517					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	p.R517Q(2)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTCTCCTCTTCGGGAATATTC	0.343000														40			6		0	0	0.00198382	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798785	55798785	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:55798785G>A	uc010riw.2	+	0	891	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					ACAAGGATGTGAAAAATGCTC	0.313000														47			14		0	0	0.00185496	0	0
ADAM23	8745	broad.mit.edu	37	2	207310033	207310033	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:207310033C>T	uc002vbq.3	+	1	440	c.217C>T	c.(217-219)Ccg>Tcg	p.P73S	ADAM23_uc010ziv.2_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	73					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TCCACCAGCTCCGCATTGGAA	0.408000														15			8		0	0	0.000157383	0	0
CAMKK2	10645	broad.mit.edu	37	12	121712086	121712086	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:121712086G>A	uc001tzv.3	-	1	1073	c.244C>T	c.(244-246)Ccc>Tcc	p.P82S	CAMKK2_uc001tzt.3_Missense_Mutation_p.P82S|CAMKK2_uc001tzu.3_Missense_Mutation_p.P82S|CAMKK2_uc001tzw.3_Missense_Mutation_p.P82S|CAMKK2_uc001tzx.3_Missense_Mutation_p.P82S|CAMKK2_uc001tzy.3_Missense_Mutation_p.P82S|CAMKK2_uc001uaa.1_Missense_Mutation_p.P82S|CAMKK2_uc001uab.3_Missense_Mutation_p.P82S|CAMKK2_uc001uac.3_Missense_Mutation_p.P82S|CAMKK2_uc001uad.2_Missense_Mutation_p.P82S	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 2, beta (CAMKK2), transcript variant 1, mRNA.	82					MAPKKK cascade|calcium-mediated signaling|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity	p.P82R(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTGTCAAGGGGGACCTCTTGG	0.697000														124			51		0	0	0.000781405	0	0
HMCN1	83872	broad.mit.edu	37	1	186072783	186072783	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:186072783C>T	uc001grq.1	+	68	10982	c.10753C>T	c.(10753-10755)Cga>Tga	p.R3585*	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3585	Ig-like C2-type 34.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGAGGTTCTTCGAATTTCTAC	0.418000														30			15		0	0	0.00121646	0	0
HEPHL1	341208	broad.mit.edu	37	11	93819248	93819248	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:93819248G>A	uc001pep.2	+	10	2130	c.1973G>A	c.(1972-1974)gGa>gAa	p.G658E	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	658	Plastocyanin-like 4.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GACATGCATGGAATTGTTTTT	0.507000														23			10		0	0	0.000673444	0	0
NEK9	91754	broad.mit.edu	37	14	75570664	75570664	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr14:75570664G>A	uc001xrl.3	-	13	1766	c.1612C>T	c.(1612-1614)Caa>Taa	p.Q538*	NEK9_uc001xrk.3_Nonsense_Mutation_p.Q38*	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 9 (NEK9), mRNA.	538					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		CAGCCACATTGAACTGCAACA	0.408000														24			9		0	0	0.000442599	0	0
IRGC	56269	broad.mit.edu	37	19	44222942	44222942	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr19:44222942G>A	uc002oxh.3	+	1	379	c.232G>A	c.(232-234)Gag>Aag	p.E78K	IRGC_uc021uvh.1_Missense_Mutation_p.E78K	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	78						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				GCGTGGCCTGGAGGCCGAGGA	0.682000														30			15		0	0	0.000566183	0	0
ASTN2	23245	broad.mit.edu	37	9	119625945	119625945	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:119625945G>A	uc004bjt.2	-	9	1905	c.1804C>T	c.(1804-1806)Cgt>Tgt	p.R602C	ASTN2_uc022bml.1_Missense_Mutation_p.R298C|ASTN2_uc022bmm.1_Missense_Mutation_p.R302C	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	653						integral to membrane		p.R602C(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GAGCAGTCACGAACTGGCCCG	0.542000														20			10		0	0	0.000442599	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	72049	72049	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chrGL000209.1:72049C>T	uc002qui.2	+	2	210	c.199C>T	c.(199-201)Cac>Tac	p.H67Y	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc010yic.2_Missense_Mutation_p.H64Y|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evg.1_Intron|KIR2DL2_uc010evh.1_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001083539	NP_001077008	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 (KIR3DS1), mRNA.	71	Ig-like C2-type 1.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										AGACAGAATCCACGTTCCCAT	0.522000														30			16		0	0	0.000566183	0	0
OR1L4	254973	broad.mit.edu	37	9	125486790	125486790	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:125486790C>T	uc004bmu.1	+	0	522	c.522C>T	c.(520-522)atC>atT	p.I174I		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 4 (OR1L4), mRNA.	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CCTCTCACATCATTAAGCACT	0.498000														130			26		0	0	0.00195071	0	0
INSRR	3645	broad.mit.edu	37	1	156812890	156812890	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:156812890G>A	uc010pht.2	-	16	3331	c.3032C>T	c.(3031-3033)gCc>gTc	p.A1011V	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	1011	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGTCTTCAGGGCCACGGGTGT	0.557000														24			15		0	0	0.000308642	0	0
CD300LG	146894	broad.mit.edu	37	17	41926191	41926191	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr17:41926191G>A	uc002iem.3	+	1	378	c.309G>A	c.(307-309)ggG>ggA	p.G103G	CD300LG_uc002iel.2_Silent_p.G103G|CD300LG_uc010czk.3_Silent_p.G103G|CD300LG_uc010wil.2_Silent_p.G103G|CD300LG_uc010czl.3_Silent_p.G103G	NM_145273	NP_660316	Q6UXG3	CLM9_HUMAN	Homo sapiens CD300 molecule-like family member g (CD300LG), transcript variant 1, mRNA.	103	Ig-like V-type.					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AAGACGCTGGGGAGTACTGGT	0.572000														46			24		0	0	0.00209593	0	0
INHBE	83729	broad.mit.edu	37	12	57849480	57849480	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:57849480G>A	uc001snw.3	+	0	385	c.161G>A	c.(160-162)gGg>gAg	p.G54E		NM_031479	NP_113667	P58166	INHBE_HUMAN	Homo sapiens inhibin, beta E (INHBE), mRNA.	54					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						ATCCTGGATGGGTTGCACCTG	0.622000														13			4		0	0	0.00024832	0	0
SLC4A8	9498	broad.mit.edu	37	12	51888848	51888848	+	Silent	SNP	C	T	T	rs141954048		TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:51888848C>T	uc001rys.1	+	20	3067	c.2889C>T	c.(2887-2889)ctC>ctT	p.L963L	SLC4A8_uc001rym.3_Silent_p.L910L|SLC4A8_uc001ryn.3_Silent_p.L910L|SLC4A8_uc001ryo.2_Silent_p.L910L|SLC4A8_uc010snj.2_Silent_p.L990L|SLC4A8_uc001ryr.3_Silent_p.L963L	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	963					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	p.L963L(3)		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)		TGACCTGTCTCGTCCTGCTCT	0.468000														49			12		0	0	0.00244969	0	0
KRT76	51350	broad.mit.edu	37	12	53169229	53169229	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:53169229C>T	uc001sax.3	-	1	812	c.758G>A	c.(757-759)gGg>gAg	p.G253E		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	253	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCCAGGTTCCCCCTCTCCCC	0.542000														74			27		0	0	0.001512	0	0
TRIML2	205860	broad.mit.edu	37	4	189012605	189012605	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr4:189012605G>A	uc011cle.1	-	7	1533	c.1311C>T	c.(1309-1311)atC>atT	p.I437I	TRIML2_uc003izj.1_Silent_p.I190I|TRIML2_uc003izk.1_Silent_p.I170I|TRIML2_uc003izl.2_Silent_p.I362I	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	362							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CTCCATTTGGGATACAGAGGG	0.458000														46			19		0	0	0.00121646	0	0
MSLNL	401827	broad.mit.edu	37	16	830203	830203	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr16:830203G>A	uc002cjz.1	-	2	798	c.798C>T	c.(796-798)gcC>gcT	p.A266A		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	511					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CGGGAGCAGGGGCCGGGGCAT	0.677000														17			5		0	0	0.000602214	0	0
HTR3E	285242	broad.mit.edu	37	3	183818418	183818418	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:183818418G>A	uc010hxr.3	+	0	452	c.258G>A	c.(256-258)gcG>gcA	p.A86A	HTR3E_uc010hxq.3_Silent_p.A71A|HTR3E_uc003fml.4_Silent_p.A71A|HTR3E_uc003fmm.3_Silent_p.A86A|HTR3E_uc003fmn.3_Silent_p.A86A	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	71						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TCTCCTTCGCGATGTCTGCCA	0.557000														42			25		0	0	0.001512	0	0
SELE	6401	broad.mit.edu	37	1	169698456	169698456	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:169698456G>A	uc001ggm.4	-	6	1118	c.961C>T	c.(961-963)Cct>Tct	p.P321S	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	321	Sushi 3.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TCTCCAGCAGGGGAATGGCTG	0.527000														17			8		0	0	0.000157383	0	0
PFKFB1	5207	broad.mit.edu	37	X	54985314	54985314	+	Silent	SNP	G	A	A	rs144960587		TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chrX:54985314G>A	uc004dty.1	-	4	500	c.429C>T	c.(427-429)atC>atT	p.I143I	PFKFB1_uc010nkd.1_Silent_p.I129I|PFKFB1_uc011mol.1_Silent_p.I78I	NM_002625	NP_002616	P16118	F261_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (PFKFB1), mRNA.	143	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						CAAACTGCAGGATCAGTGACC	0.448000														31			32		0	0	0.00111076	0	0
TLN2	83660	broad.mit.edu	37	15	62948154	62948154	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr15:62948154G>A	uc002alb.4	+	4	529	c.529G>A	c.(529-531)Gat>Aat	p.D177N		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	177	FERM.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.D177Y(2)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AAATTGGCTGGATCACAGCCG	0.378000														20			9		0	0	0.000673444	0	0
ANKS1A	23294	broad.mit.edu	37	6	34962099	34962099	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr6:34962099G>A	uc003ojx.4	+	9	1465	c.1323G>A	c.(1321-1323)agG>agA	p.R441R	ANKS1A_uc011dst.2_5'UTR|ANKS1A_uc010jvp.2_5'UTR	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	441						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGAGACCTAGGATTCATGGGA	0.448000														33			14		0	0	0.00185496	0	0
ZDHHC19	131540	broad.mit.edu	37	3	195937576	195937576	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:195937576G>A	uc003fwc.3	-	1	293	c.179C>T	c.(178-180)gCc>gTc	p.A60V	ZDHHC19_uc010iaa.3_Intron|ZDHHC19_uc010hzz.3_Non-coding_Transcript|ZDHHC19_uc010iab.3_Non-coding_Transcript	NM_001039617	NP_001034706	Q8WVZ1	ZDH19_HUMAN	Homo sapiens zinc finger, DHHC-type containing 19 (ZDHHC19), mRNA.	60						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		AACAGGAAAGGCCCACTCCCC	0.577000														18			5		0	0	0.000602214	0	0
HAO2	51179	broad.mit.edu	37	1	119925537	119925537	+	Splice_Site	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:119925537G>A	uc001ehr.1	+	3	264	c.132_splice	c.e3-1	p.R44_splice	HAO2_uc001ehq.1_Splice_Site_p.R44_splice	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	44	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GTCCGGCACAGAATTCGCCTC	0.542000														16			7		0	0	0.000978159	0	0
CACNA1B	774	broad.mit.edu	37	9	141016151	141016151	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:141016151G>A	uc004cog.3	+	45	6859	c.6714G>A	c.(6712-6714)caG>caA	p.Q2238Q	CACNA1B_uc022bqn.1_Missense_Mutation_p.R2176K|CACNA1B_uc004coi.3_Silent_p.Q1452Q	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	2240					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCCTGCTGCAGAGAGACCCCC	0.672000														36			9		0	0	0.00136819	0	0
MUSK	4593	broad.mit.edu	37	9	113563219	113563219	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:113563219G>A	uc022blv.1	+	14	2695	c.2561G>A	c.(2560-2562)cGa>cAa	p.R854Q	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.R765Q|MUSK_uc022blu.1_Missense_Mutation_p.R755Q	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	854	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						AGTATTCACCGAATTCTGGAA	0.507000														12			6		0	0	0.000274275	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35900534	35900534	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:35900534G>A	uc001byx.3	-	20	3369	c.3111C>T	c.(3109-3111)acC>acT	p.T1037T	KIAA0319L_uc001byw.3_Silent_p.T479T	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	1037						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCTTCAGAGGGGTCTGCCCGT	0.617000														24			6		0	0	0.000157383	0	0
BAI3	577	broad.mit.edu	37	6	70092803	70092803	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr6:70092803G>A	uc010kak.3	+	29	4632	c.4356G>A	c.(4354-4356)cgG>cgA	p.R1452R	BAI3_uc003pev.4_Silent_p.R1452R|BAI3_uc011dxx.2_Silent_p.R658R	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1452					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R1452W(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACAGATTTCGGGATATACCAA	0.378000														14			6		0	0	0.00198382	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321336	79321336	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:79321336C>T	uc010mpk.3	-	7	5978	c.5854G>A	c.(5854-5856)Gaa>Aaa	p.E1952K	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.E1774K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1952					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTAGGTGTTTCAGGAGTCAGC	0.463000														35			25		0	0	0.00278032	0	0
NID1	4811	broad.mit.edu	37	1	236187432	236187432	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:236187432G>A	uc001hxo.3	-	8	2168	c.2066C>T	c.(2065-2067)cCc>cTc	p.P689L	NID1_uc009xgd.3_Missense_Mutation_p.P689L	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	689	EGF-like 2.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CTGTGTCCTGGGACCAGGGCG	0.567000														18			12		0	0	0.000978159	0	0
NLGN2	57555	broad.mit.edu	37	17	7318893	7318893	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr17:7318893C>T	uc002ggt.1	+	5	1174	c.1101C>T	c.(1099-1101)ctC>ctT	p.L367L		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	Homo sapiens neuroligin 2 (NLGN2), mRNA.	367					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CTGAGATCCTCATGCAGCAGG	0.612000														43			20		0	0	0.000958276	0	0
UBAC2	337867	broad.mit.edu	37	13	99890718	99890718	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr13:99890718C>A	uc010tiu.2	+	1	553	c.218C>A	c.(217-219)cCa>cAa	p.P73Q	UBAC2_uc001voa.4_Silent_p.P23P|UBAC2_uc001vob.4_Missense_Mutation_p.P73Q|UBAC2_uc010tiv.2_Non-coding_Transcript|UBAC2_uc001vod.3_5'UTR|UBAC2_uc001voc.3_Missense_Mutation_p.P65Q|UBAC2_uc010tiw.2_Non-coding_Transcript|MIR548AN_uc021rly.1_Intron	NM_177967	NP_808882	Q8NBM4	UBAC2_HUMAN	Homo sapiens UBA domain containing 2 (UBAC2), transcript variant 2, mRNA.	0						integral to membrane		p.S72*(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGCTGGTCCCCAGTGCCCTCT	0.522000														213			6		0.00198382	0.00933763	0.00198382	1	0
AKAP6	9472	broad.mit.edu	37	14	33293521	33293521	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr14:33293521G>A	uc001wrq.3	+	12	6672	c.6502G>A	c.(6502-6504)Gag>Aag	p.E2168K		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	2168					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGATGGAGAGGAGCCTTGTTT	0.478000														17			10		0	0	0.000673444	0	0
C8B	732	broad.mit.edu	37	1	57399146	57399146	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:57399146C>T	uc001cyp.3	-	9	1481	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	C8B_uc010oon.2_Missense_Mutation_p.E410K|C8B_uc010ooo.2_Missense_Mutation_p.E420K	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	472	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GTCACTAGTTCATACAGAGGC	0.438000														21			7		0	0	0.000157383	0	0
SPINT1	6692	broad.mit.edu	37	15	41146714	41146714	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr15:41146714G>A	uc001zna.3	+	6	1312	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	SPINT1_uc001znb.3_Missense_Mutation_p.E354K|SPINT1_uc001znc.3_Missense_Mutation_p.E354K|SPINT1_uc010ucs.2_Missense_Mutation_p.E361K	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	370	LDL-receptor class A.					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGCTGCCTGTGAAAAATGTGA	0.627000														23			15		0	0	0.000422831	0	0
SARDH	1757	broad.mit.edu	37	9	136536688	136536688	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:136536688G>A	uc004cep.4	-	17	2429	c.2295C>T	c.(2293-2295)taC>taT	p.Y765Y	SARDH_uc004ceo.3_Silent_p.Y765Y|SARDH_uc011mdo.2_Silent_p.Y597Y|SARDH_uc011mdn.2_Silent_p.Y765Y|SARDH_uc004cen.3_Silent_p.Y193Y	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	765					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CGATGGCGCGGTACCCTGCGT	0.672000														8			4		0	0	0.000602214	0	0
MEFV	4210	broad.mit.edu	37	16	3293408	3293408	+	Missense_Mutation	SNP	C	T	T	rs121907890		TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr16:3293408C>T	uc002cun.1	-	9	2119	c.2079G>A	c.(2077-2079)atG>atA	p.M693I	MEFV_uc021tbw.1_3'UTR|MEFV_uc021tbx.1_Missense_Mutation_p.M273I|MEFV_uc021tby.1_Missense_Mutation_p.M196I|MEFV_uc021tbz.1_Missense_Mutation_p.M112I|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_3'UTR	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	693	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TTTCCTTCATCATTATCACCA	0.537000														77			13		0	0	0.000422831	0	0
PRDM9	56979	broad.mit.edu	37	5	23527766	23527766	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr5:23527766G>A	uc003jgo.3	+	10	2751	c.2569G>A	c.(2569-2571)Gag>Aag	p.E857K		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	857					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACACACAGGGGAGAAGCCCTA	0.592000										HNSCC(3;0.000094)				54			17		0	0	0.000566183	0	0
FREM1	158326	broad.mit.edu	37	9	14851345	14851345	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:14851345G>A	uc003zlm.3	-	6	1905	c.1089C>T	c.(1087-1089)ctC>ctT	p.L363L	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.	363					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)		GCATGTCACTGAGATCTTTCC	0.493000														20			12		0	0	0.00185496	0	0
GART	2618	broad.mit.edu	37	21	34901165	34901165	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr21:34901165G>A	uc002yrz.3	-	7	1113	c.802C>T	c.(802-804)Cca>Tca	p.P268S	GART_uc002yrx.3_Missense_Mutation_p.P268S|GART_uc010gmd.3_5'UTR|GART_uc002yry.3_Missense_Mutation_p.P268S|GART_uc002ysa.2_Missense_Mutation_p.P268S	NM_001136005	NP_001129478	P22102	PUR2_HUMAN	Homo sapiens phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), transcript variant 3, mRNA.	268	ATP-grasp.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CCTGTATATGGAGTACCCTCT	0.368000														27			6		0	0	0.00198382	0	0
ARSF	416	broad.mit.edu	37	X	3021865	3021865	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chrX:3021865G>A	uc022brz.1	+	8	1301	c.1165G>A	c.(1165-1167)Gga>Aga	p.G389R	ARSF_uc004cre.2_Missense_Mutation_p.G389R|ARSF_uc004crf.2_Missense_Mutation_p.G389R	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	389						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCGATGGCCTGGAAAGGTACC	0.478000														7			25		0	0	0.00278032	0	0
PTPRD	5789	broad.mit.edu	37	9	8528596	8528596	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:8528596C>T	uc003zkk.3	-	14	1279	c.536G>A	c.(535-537)cGa>cAa	p.R179Q	PTPRD_uc003zkp.3_Missense_Mutation_p.R179Q|PTPRD_uc003zkq.3_Missense_Mutation_p.R179Q|PTPRD_uc003zkr.3_Missense_Mutation_p.R179Q|PTPRD_uc003zks.3_Missense_Mutation_p.R179Q|PTPRD_uc022bdj.1_Missense_Mutation_p.R179Q|PTPRD_uc003zkt.1_Missense_Mutation_p.R179Q	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	179	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R179R(1)|p.R179*(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCTACCTGATCGTAACTGCTT	0.328000										TSP Lung(15;0.13)				31			20		0	0	0.000586117	0	0
OR14A16	284532	broad.mit.edu	37	1	247978766	247978766	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:247978766G>A	uc001idm.1	-	0	266	c.266C>T	c.(265-267)tCc>tTc	p.S89F		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GAATGAAATGGAGTTGTTGTG	0.443000														18			9		0	0	0.000274275	0	0
C10orf120	399814	broad.mit.edu	37	10	124457593	124457593	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:124457593C>T	uc001lgn.3	-	2	696	c.664G>A	c.(664-666)Gat>Aat	p.D222N		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	222								p.D222V(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TGGTTGGCATCATCACAATTA	0.403000														17			9		0	0	0.000274275	0	0
ANKS1B	56899	broad.mit.edu	37	12	99640355	99640355	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:99640355C>T	uc001tge.2	-	12	2461	c.2044G>A	c.(2044-2046)Gaa>Aaa	p.E682K	ANKS1B_uc001tgf.2_Missense_Mutation_p.E262K|ANKS1B_uc001tgk.3_5'UTR|ANKS1B_uc009ztt.1_Missense_Mutation_p.E648K	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	682						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GTATGGTTTTCGAGTTGGTTG	0.428000														12			4		0	0	0.000602214	0	0
ALDH3B2	222	broad.mit.edu	37	11	67433012	67433012	+	Silent	SNP	G	A	A	rs142189245	byFrequency	TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:67433012G>A	uc001omr.3	-	6	889	c.450C>T	c.(448-450)cgC>cgT	p.R150R	ALDH3B2_uc001oms.3_Silent_p.R150R|ALDH3B2_uc009ysa.1_Silent_p.R150R	NM_000695	NP_001026786	P48448	AL3B2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA.	150					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	p.R150C(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	ACCAGGCCACGCGGTTGGCCA	0.672000														75			32		0	0	0.000814825	0	0
WDR59	79726	broad.mit.edu	37	16	74976658	74976658	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr16:74976658T>A	uc002fdh.1	-	6	614	c.512A>T	c.(511-513)gAt>gTt	p.D171V	WDR59_uc002fdi.3_Missense_Mutation_p.D171V|WDR59_uc021tli.1_Missense_Mutation_p.D150V	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	171										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TATCCGCACATCGCCGTCATG	0.483000														24			6		0	0	0.00198382	0	0
LRP1B	53353	broad.mit.edu	37	2	141946086	141946086	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:141946086C>T	uc002tvj.1	-	6	1889	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	306					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R306Q(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AACAAAGATCCGGTCACCGAC	0.413000										TSP Lung(27;0.18)				18			14		0	0	0.00244969	0	0
KCNK1	3775	broad.mit.edu	37	1	233807084	233807084	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:233807084G>A	uc010pxo.1	+	2	987	c.819G>A	c.(817-819)ctG>ctA	p.L273L		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	273						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TCCATGAGCTGAAAAAATTCA	0.448000														20			16		0	0	0.000566183	0	0
LILRP2	79166	broad.mit.edu	37	19	55221553	55221553	+	RNA	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr19:55221553G>A	uc002qgs.1	+	0		c.1953G>A			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		TCTCCCACGGGGGCCAGTACA	0.677000														17			10		0	0	0.000978159	0	0
OR2B3	442184	broad.mit.edu	37	6	29054925	29054925	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr6:29054925G>A	uc003nlx.3	-	0	166	c.101C>T	c.(100-102)tCa>tTa	p.S34L		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						GATTGTGTATGATATTAACAG	0.408000														37			14		0	0	0.00244969	0	0
NRP1	8829	broad.mit.edu	37	10	33542975	33542975	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:33542975G>A	uc001iwx.4	-	5	1485	c.962C>T	c.(961-963)tCc>tTc	p.S321F	NRP1_uc001iwv.4_Missense_Mutation_p.S321F|NRP1_uc001iwy.4_Missense_Mutation_p.S321F|NRP1_uc009xlz.3_Missense_Mutation_p.S321F|NRP1_uc001iww.4_Missense_Mutation_p.S140F|NRP1_uc001iwz.2_Missense_Mutation_p.S321F|NRP1_uc001ixa.2_Missense_Mutation_p.S321F|NRP1_uc001ixb.2_Missense_Mutation_p.S321F|NRP1_uc001ixc.1_Missense_Mutation_p.S321F	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	321	F5/8 type C 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CTCTCGGTAGGAATCCTCTCC	0.483000														27			9		0	0	0.000442599	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270291	1270291	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr16:1270291C>T	uc002cks.3	+	34	6607	c.6359C>T	c.(6358-6360)cCc>cTc	p.P2120L	CACNA1H_uc002ckt.3_Missense_Mutation_p.P2114L|CACNA1H_uc002cku.3_Missense_Mutation_p.P815L|CACNA1H_uc010brj.3_Missense_Mutation_p.P831L|CACNA1H_uc002ckv.3_Missense_Mutation_p.P809L	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	2120					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CCCCATGGCCCCGAAGCCTCT	0.731000														12			4		0	0	0.000602214	0	0
COL20A1	57642	broad.mit.edu	37	20	61957051	61957051	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr20:61957051G>A	uc011aau.2	+	28	3480	c.3380G>A	c.(3379-3381)aGa>aAa	p.R1127K	COL20A1_uc011aav.2_Missense_Mutation_p.R948K	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	1127	Collagen-like 1.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					ATCCCCGGGAGAGTTGGCCTC	0.697000														15			7		0	0	0.000274275	0	0
FAP	2191	broad.mit.edu	37	2	163059452	163059452	+	Splice_Site	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:163059452C>T	uc002ucd.3	-	14	1361	c.1153_splice	c.e14-1	p.E385_splice	FAP_uc010zct.2_Splice_Site_p.E360_splice	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	385					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ATAGCATTTTCCTATAAAAAG	0.378000														32			16		0	0	0.000566183	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215844	20215844	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr14:20215844C>T	uc010tkt.2	+	0	258	c.258C>T	c.(256-258)ttC>ttT	p.F86F		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAGGGGATTTCCTACAGCAGG	0.458000														39			15		0	0	0.000308642	0	0
OR4N2	390429	broad.mit.edu	37	14	20295871	20295871	+	Silent	SNP	G	A	A	rs144051874	byFrequency	TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr14:20295871G>A	uc010tkv.2	+	0	264	c.264G>A	c.(262-264)gcG>gcA	p.A88A		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A88P(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCTCTCTGCGAAGAAGATAA	0.517000														69			33		0	0	0.00283554	0	0
PCDH12	51294	broad.mit.edu	37	5	141335152	141335153	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr5:141335152_141335153GG>AA	uc003llx.3	-	0	3475_3476	c.2264_2265CC>TT	c.(2263-2265)gcc>gTT	p.A755V		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	755					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGACTCGGCCTCCCGACA	0.579000														10			6		0	0	6.4e-05	0	0
OCLN	100506658	broad.mit.edu	37	5	68849485	68849485	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr5:68849485G>A	uc003jwu.3	+	8	1992	c.1556G>A	c.(1555-1557)aGa>aAa	p.R519K	OCLN_uc003jwv.4_Missense_Mutation_p.R519K|OCLN_uc021xzq.1_Missense_Mutation_p.R268K|OCLN_uc021xzr.1_Non-coding_Transcript|OCLN_uc021xzs.1_Missense_Mutation_p.R268K|OCLN_uc021xzt.1_Missense_Mutation_p.R197K	NM_002538	NP_001192184	Q16625	OCLN_HUMAN	Homo sapiens occludin (OCLN), transcript variant 1, mRNA.	519					cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GACTATGATAGACAGAAAACA	0.383000														60			21		0	0	0.00047179	0	0
REXO4	57109	broad.mit.edu	37	9	136277596	136277596	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:136277596C>A	uc004cdm.3	-	3	933	c.733G>T	c.(733-735)Gcc>Tcc	p.A245S	ADAMTS13_uc004cdp.4_5'Flank|REXO4_uc011mde.2_Missense_Mutation_p.A108S|REXO4_uc011mdf.2_Missense_Mutation_p.A108S|REXO4_uc004cdn.3_5'UTR	NM_020385	NP_065118	Q9GZR2	REXO4_HUMAN	Homo sapiens REX4, RNA exonuclease 4 homolog (S. cerevisiae) (REXO4), mRNA.	245	Exonuclease.					nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		CAGTCCAAGGCTAAGGCTCTT	0.562000														66			21		1.64113e-05	7.7693e-05	0.00152264	1	0
FAM22A	728118	broad.mit.edu	37	10	88988226	88988226	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:88988226G>A	uc001kek.3	+	1	972	c.589G>A	c.(589-591)Ggg>Agg	p.G197R	LOC728190_uc009xtc.2_Intron|LOC728190_uc009xtd.2_Intron	NM_001099338	NP_001092808	Q8IVF1	FA22A_HUMAN	Homo sapiens family with sequence similarity 22, member A (FAM22A), mRNA.	197																	CGGCCCGAGTGGGGCCGGGGC	0.657000			T	YWHAE	edometrial stromal sarcoma									28			9		0	0	0.000442599	0	0
TLR4	7099	broad.mit.edu	37	9	120475214	120475214	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:120475214G>A	uc004bjz.3	+	2	1099	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	TLR4_uc004bkb.3_Missense_Mutation_p.E70K|TLR4_uc004bka.3_Missense_Mutation_p.E230K	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	270					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AGGAAACTTGGAAAAGTTTGA	0.358000														60			34		0	0	0.000814825	0	0
CSMD3	114788	broad.mit.edu	37	8	114111080	114111080	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr8:114111080C>T	uc003ynu.3	-	4	981	c.822G>A	c.(820-822)gaG>gaA	p.E274E	CSMD3_uc003ynt.3_Silent_p.E234E|CSMD3_uc011lhx.2_Silent_p.E274E|CSMD3_uc010mcx.1_Silent_p.E274E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	274	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTCCCCAGGCTCTGCTACAA	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				23			7		0	0	0.000157383	0	0
PER3	8863	broad.mit.edu	37	1	7863183	7863183	+	Missense_Mutation	SNP	C	T	T	rs145870917		TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:7863183C>T	uc001aop.3	+	7	1173	c.949C>T	c.(949-951)Cgt>Tgt	p.R317C	PER3_uc009vmg.1_Missense_Mutation_p.R317C|PER3_uc009vmh.1_Missense_Mutation_p.R317C|PER3_uc001aoo.3_Missense_Mutation_p.R316C|PER3_uc010nzw.2_5'UTR|PER3_uc001aon.3_Missense_Mutation_p.R316C	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	316	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTGAAGATCGTTCTCTGAT	0.428000														71			29		0	0	0.00283554	0	0
CD163L1	283316	broad.mit.edu	37	12	7585969	7585969	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:7585969C>T	uc010sge.2	-	2	472	c.446G>A	c.(445-447)gGt>gAt	p.G149D	CD163L1_uc001qsy.3_Splice_Site_p.G149_splice	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	149						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TAGACTCTTACCATAACAGTT	0.443000														25			10		0	0	0.000978159	0	0
NCOA6	23054	broad.mit.edu	37	20	33337510	33337511	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr20:33337510_33337511GG>AC	uc002xav.3	-	9	5058_5059	c.2487_2488CC>GT	c.(2485-2490)gtcccc>gtGTcc	p.P830S	NCOA6_uc002xaw.3_Missense_Mutation_p.P830S|NCOA6_uc021wcd.1_Missense_Mutation_p.P830S|NCOA6_uc021wce.1_Missense_Mutation_p.P830S|NCOA6_uc021wcf.1_Missense_Mutation_p.P830S	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	830	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ACATGAGGGGGGACCATGTTGG	0.505000														67			17		0	0	6.4e-05	0	0
TDG	6996	broad.mit.edu	37	12	104378645	104378645	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:104378645G>A	uc001tkg.3	+	7	1134	c.911G>A	c.(910-912)cGa>cAa	p.R304Q	TDG_uc009zuk.3_Missense_Mutation_p.R300Q|TDG_uc010swi.2_Missense_Mutation_p.R161Q|TDG_uc010swj.2_Missense_Mutation_p.R92Q	NM_003211	NP_003202	Q13569	TDG_HUMAN	Homo sapiens thymine-DNA glycosylase (TDG), mRNA.	304					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		GGCATTGAACGAAATATGGAC	0.388000								Base excision repair (BER), DNA glycosylases						54			5		0	0	0.00116845	0	0
C10orf54	64115	broad.mit.edu	37	10	73521673	73521673	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:73521673C>T	uc001jsd.3	-	1	334	c.193G>A	c.(193-195)Gat>Aat	p.D65N	CDH23_uc001jrx.4_Intron|C10orf54_uc001jse.3_5'UTR	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN	Homo sapiens chromosome 10 open reading frame 54 (C10orf54), mRNA.	65	Ig-like.					integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						AAGGTCACATCGTGCCCTTTG	0.622000														33			10		0	0	0.000978159	0	0
TMEFF2	23671	broad.mit.edu	37	2	192818523	192818523	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:192818523C>T	uc002utc.3	-	8	1304	c.910G>A	c.(910-912)Gac>Aac	p.D304N		NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	Homo sapiens transmembrane protein with EGF-like and two follistatin-like domains 2 (TMEFF2), mRNA.	304	Required for shedding.					extracellular region|integral to membrane		p.D304H(2)		breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			ACACTGTAGTCCTTTTTTTCA	0.403000														31			12		0	0	0.000978159	0	0
MUC5B	727897	broad.mit.edu	37	11	1270670	1270670	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:1270670T>C	uc001lta.3	+	30	12619	c.12560T>C	c.(12559-12561)tTg>tCg	p.L4187S		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4187	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGGGGGAGTTGGGCCAGGTC	0.637000														60			19		0	0	0.00121646	0	0
FRG2B	441581	broad.mit.edu	37	10	135440165	135440165	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:135440165A>G	uc010qvg.2	-	0	135	c.82T>C	c.(82-84)Tcc>Ccc	p.S28P		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA.	28						nucleus		p.S28S(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TCTGTAAAGGAGATCTGTTGG	0.483000														96			4		0	0	0.00024832	0	0
TRAV12-1	28674	broad.mit.edu	37	14	22309704	22309704	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr14:22309704C>T	uc001wbx.2	+	1	189	c.88C>T	c.(88-90)Cct>Tct	p.P30S	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 12, partial cds, clone: SEB 232.																		GGAGCAGGATCCTGGACCCTT	0.493000														17			9		0	0	0.000673444	0	0
DSG4	147409	broad.mit.edu	37	18	28968370	28968370	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr18:28968370G>A	uc002kwr.2	+	3	392	c.257G>A	c.(256-258)cGg>cAg	p.R86Q	DSG4_uc002kwq.2_Missense_Mutation_p.R86Q	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	86	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATAACATACCGGATTTCTGGA	0.403000														13			6		0	0	0.00116845	0	0
SI	6476	broad.mit.edu	37	3	164772993	164772993	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:164772993C>T	uc003fei.3	-	12	1564	c.1501G>A	c.(1501-1503)Gga>Aga	p.G501R		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	501	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATCCAAAGTCCATCATATTGC	0.328000										HNSCC(35;0.089)				58			14		0	0	0.00244969	0	0
TAP2	6891	broad.mit.edu	37	6	32798514	32798515	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr6:32798514_32798515CC>TT	uc011dqf.1	-	7	1463_1464	c.1341_1342GG>AA	c.(1339-1344)atggac>atAAac	p.447_448MD>IN	TAP2_uc003ocb.1_Missense_Mutation_p.447_448MD>IN|TAP2_uc003occ.3_Missense_Mutation_p.447_448MD>IN|TAP2_uc003ocd.3_Missense_Mutation_p.447_448MD>IN	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	447					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I	TAP complex|nucleus|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding										GGCTGTCGGTCCATGTAGGAGA	0.530000														22			5		0	0	6.4e-05	0	0
SDHAP3	728609	broad.mit.edu	37	5	1593372	1593372	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr5:1593372G>A	uc010itg.1	-	1	165	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	SDHAP3_uc011cme.2_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3 (SDHAP3), non-coding RNA.																		GGCACAATCTGATCCTGGCCA	0.582000														41			6		0	0	0.000157383	0	0
PCLO	27445	broad.mit.edu	37	7	82784478	82784478	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:82784478C>T	uc003uhx.2	-	1	1768	c.1479G>A	c.(1477-1479)caG>caA	p.Q493Q	PCLO_uc003uhv.2_Silent_p.Q493Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	442	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGAGCCAGGCTGTTGAGGTG	0.617000														88			30		0	0	0.00209593	0	0
NCEH1	57552	broad.mit.edu	37	3	172351837	172351837	+	Silent	SNP	A	G	G			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:172351837A>G	uc011bpx.2	-	4	913	c.775T>C	c.(775-777)Tta>Cta	p.L259L	NCEH1_uc003fig.3_Silent_p.L251L|NCEH1_uc011bpw.2_Silent_p.L86L|NCEH1_uc011bpy.2_Silent_p.L86L	NM_001146276	NP_001139750	Q6PIU2	NCEH1_HUMAN	Homo sapiens neutral cholesterol ester hydrolase 1 (NCEH1), transcript variant 1, mRNA.	219					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						GGATAAATTAAAGCTTGTAGT	0.363000														27			11		0	0	0.000978159	0	0
NOS1	4842	broad.mit.edu	37	12	117768765	117768765	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:117768765C>T	uc001twn.2	-	1	821	c.110G>A	c.(109-111)aGt>aAt	p.S37N	NOS1_uc001twm.2_Missense_Mutation_p.S37N	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	37	Interaction with NOSIP (By similarity).|PDZ.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.S37R(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGGCGGCTTACTGACCCGCTC	0.577000														30			8		0	0	0.000673444	0	0
OR5F1	338674	broad.mit.edu	37	11	55761975	55761975	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:55761975G>A	uc010riv.2	-	0	127	c.127C>T	c.(127-129)Ctc>Ttc	p.L43F		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					ATCATCCCGAGATTTCCCAGT	0.428000														25			9		0	0	0.000274275	0	0
GALNT13	114805	broad.mit.edu	37	2	155099341	155099341	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:155099341C>T	uc002tyt.4	+	3	713	c.609C>T	c.(607-609)gtC>gtT	p.V203V	GALNT13_uc002tyr.4_Silent_p.V203V|GALNT13_uc010foc.1_Silent_p.V22V|GALNT13_uc010fod.3_5'Flank	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	203	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AAGGGCAGGTCATAACTTTTC	0.428000														15			6		0	0	0.00198382	0	0
ITGA6	3655	broad.mit.edu	37	2	173351768	173351768	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:173351768G>A	uc002uhp.1	+	13	2075	c.1872G>A	c.(1870-1872)gaG>gaA	p.E624E	ITGA6_uc010zdy.1_Silent_p.E505E|ITGA6_uc002uho.1_Silent_p.E624E|ITGA6_uc010fqm.1_Silent_p.E270E	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	663					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TCTTAAAAGAGGGATGTGGAG	0.378000														14			9		0	0	0.00136819	0	0
IP6K3	117283	broad.mit.edu	37	6	33690841	33690842	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr6:33690841_33690842CC>TT	uc010jvf.2	-	6	1424_1425	c.888_889GG>AA	c.(886-891)agggag>agAAag	p.E297K	IP6K3_uc003ofb.2_Missense_Mutation_p.E297K	NM_001142883	NP_473452	Q96PC2	IP6K3_HUMAN	Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript variant 2, mRNA.	297					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						TCCAGGAGCTCCCTCCGGAGGT	0.520000														29			8		0	0	6.4e-05	0	0
BSN	8927	broad.mit.edu	37	3	49698188	49698188	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:49698188G>A	uc003cxe.4	+	5	9024	c.8910G>A	c.(8908-8910)aaG>aaA	p.K2970K		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2970					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGGAGGAGAAGGAGATTGACG	0.602000														9			4		0	0	0.00024832	0	0
DYSF	8291	broad.mit.edu	37	2	71871148	71871148	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:71871148G>A	uc010fen.3	+	41	4722	c.4581G>A	c.(4579-4581)agG>agA	p.R1527R	DYSF_uc010fei.3_Silent_p.R1505R|DYSF_uc010feh.3_Silent_p.R1495R|DYSF_uc002sig.4_Silent_p.R1474R|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.R1519R|DYSF_uc010fee.3_Silent_p.R1509R|DYSF_uc010fef.3_Silent_p.R1526R|DYSF_uc002sie.3_Silent_p.R1488R|DYSF_uc010feo.3_Silent_p.R1520R|DYSF_uc010fej.3_Silent_p.R1496R|DYSF_uc010fel.3_Silent_p.R1475R|DYSF_uc010fem.3_Silent_p.R1510R|DYSF_uc002sif.3_Silent_p.R1489R|DYSF_uc010fek.3_Silent_p.R1506R|DYSF_uc010yqy.2_Silent_p.R369R|DYSF_uc010yqz.2_Silent_p.R249R	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1488						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TAGGGGAGAGGGAAAAGTGCG	0.517000														7			3		0	0	6.4e-05	0	0
BDNF	627	broad.mit.edu	37	11	27679989	27679989	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:27679989C>T	uc001mrv.3	-	1	481	c.123G>A	c.(121-123)ggG>ggA	p.G41G	BDNF-AS_uc009yip.3_Non-coding_Transcript|BDNF-AS_uc001mrn.3_Non-coding_Transcript|BDNF-AS_uc001mro.3_Non-coding_Transcript|BDNF-AS_uc001mrm.3_Non-coding_Transcript|BDNF-AS_uc009yiq.3_Non-coding_Transcript|BDNF-AS_uc001mrp.3_Non-coding_Transcript|BDNF-AS_uc009yij.3_Non-coding_Transcript|BDNF-AS_uc009yik.3_Non-coding_Transcript|BDNF-AS_uc009yil.3_Non-coding_Transcript|BDNF-AS_uc009yin.3_Non-coding_Transcript|BDNF-AS_uc009yio.3_Non-coding_Transcript|BDNF-AS_uc009yim.3_Non-coding_Transcript|BDNF-AS_uc009yir.3_Non-coding_Transcript|BDNF-AS_uc009yis.3_Intron|BDNF-AS_uc009yiu.3_Non-coding_Transcript|BDNF-AS_uc009yix.3_Non-coding_Transcript|BDNF-AS_uc009yiy.3_Non-coding_Transcript|BDNF-AS_uc001mrq.4_Non-coding_Transcript|BDNF-AS_uc009yiw.3_Non-coding_Transcript|BDNF-AS_uc009yiz.3_Non-coding_Transcript|BDNF-AS_uc001mrr.4_Non-coding_Transcript|BDNF-AS_uc009yit.3_Non-coding_Transcript|BDNF-AS_uc009yiv.3_Non-coding_Transcript|BDNF-AS_uc009yja.3_Non-coding_Transcript|BDNF-AS_uc009yjb.3_Non-coding_Transcript|BDNF_uc021qff.1_Silent_p.G41G|BDNF_uc010rdu.2_Silent_p.G41G|BDNF_uc001mrt.3_Silent_p.G56G|BDNF_uc010rdw.2_Silent_p.G41G|BDNF_uc009yjd.3_Silent_p.G41G|BDNF_uc001mru.3_Silent_p.G41G|BDNF_uc010rdx.2_Silent_p.G41G|BDNF_uc009yjf.3_Silent_p.G70G|BDNF_uc010rdy.2_Silent_p.G41G|BDNF_uc009yjg.3_Silent_p.G41G|BDNF_uc009yje.3_Silent_p.G123G|BDNF_uc001mrw.4_Silent_p.G41G|BDNF_uc001mry.4_Silent_p.G41G|BDNF_uc001mrz.4_Silent_p.G41G|BDNF_uc001mrx.3_Silent_p.G41G|BDNF_uc001msa.3_Silent_p.G49G	NM_170733	NP_733931	P23560	BDNF_HUMAN	Homo sapiens brain-derived neurotrophic factor (BDNF), transcript variant 5, mRNA.	41						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						TCTCCAGAGTCCCATGGGTCC	0.527000														59			25		0	0	0.00127121	0	0
KIAA1383	54627	broad.mit.edu	37	1	232943495	232943495	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:232943495C>T	uc001hvh.2	+	0	2858	c.2726C>T	c.(2725-2727)tCa>tTa	p.S909L		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	Homo sapiens KIAA1383 (KIAA1383), mRNA.	767										breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)	20		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				CCACCTTTTTCAGCCGGGTCA	0.378000														21			10		0	0	0.000442599	0	0
WNK4	65266	broad.mit.edu	37	17	40932965	40932965	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr17:40932965C>T	uc002ibj.3	+	0	317	c.249C>T	c.(247-249)ccC>ccT	p.P83P	WNK4_uc010wgx.2_5'UTR|WNK4_uc002ibk.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	83					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTCCGGACCCCCCCGATCCTC	0.711000														16			6		0	0	0.00116845	0	0
PDE3B	5140	broad.mit.edu	37	11	14808177	14808177	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:14808177C>T	uc001mln.3	+	2	1577	c.1224C>T	c.(1222-1224)taC>taT	p.Y408Y	PDE3B_uc010rcr.2_Intron	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA.	408					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	Golgi apparatus|cytosol|endoplasmic reticulum|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGGATTTTACCCCTGTTCTG	0.388000														80			37		0	0	0.00222228	0	0
TLN2	83660	broad.mit.edu	37	15	63097861	63097861	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr15:63097861G>A	uc002alb.4	+	47	6540	c.6540G>A	c.(6538-6540)acG>acA	p.T2180T	TLN2_uc002alc.4_Silent_p.T573T	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	2180					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TAAGGATGACGAAAGGCATCA	0.473000														26			9		0	0	0.000442599	0	0
PALMD	54873	broad.mit.edu	37	1	100154801	100154801	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:100154801C>T	uc001dsg.3	+	6	1428	c.985C>T	c.(985-987)Ccc>Tcc	p.P329S		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	329					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		AGTGCCTCATCCCCGATCAGT	0.453000														17			9		0	0	0.000442599	0	0
FAM75A6	389730	broad.mit.edu	37	9	43630635	43630635	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:43630635G>A	uc011lrb.2	-	0	96	c.67C>T	c.(67-69)Cca>Tca	p.P23S		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	23						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						AACACCCATGGTGTGGAGCTG	0.473000														28			24		0	0	0.000720815	0	0
OR1A1	8383	broad.mit.edu	37	17	3119002	3119002	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr17:3119002C>T	uc010vrc.2	+	0	88	c.88C>T	c.(88-90)Ctc>Ttc	p.L30F		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CTTCTACATCCTCTTCTTGTT	0.443000														35			28		0	0	0.00106085	0	0
ZNF485	220992	broad.mit.edu	37	10	44111840	44111840	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:44111840G>A	uc010qfc.2	+	4	543	c.349G>A	c.(349-351)Ggc>Agc	p.G117S	ZNF485_uc010qfd.2_Missense_Mutation_p.G26S	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN	Homo sapiens zinc finger protein 485 (ZNF485), mRNA.	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GATGGAAAAAGGCCTGGACTG	0.453000														20			8		0	0	0.000157383	0	0
PLEC	5339	broad.mit.edu	37	8	144995445	144995445	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr8:144995445G>A	uc003zaf.1	-	31	9125	c.8955C>T	c.(8953-8955)gaC>gaT	p.D2985D	PLEC_uc003zab.1_Silent_p.D2848D|PLEC_uc003zac.1_Silent_p.D2852D|PLEC_uc003zad.2_Silent_p.D2848D|PLEC_uc003zae.1_Silent_p.D2816D|PLEC_uc003zag.1_Silent_p.D2826D|PLEC_uc003zah.2_Silent_p.D2834D|PLEC_uc003zaj.2_Silent_p.D2875D	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2985	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTTGGTGTCGTCGCTGGGGT	0.662000														71			17		0	0	0.000566183	0	0
ANO4	121601	broad.mit.edu	37	12	101333113	101333113	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:101333113C>T	uc010svm.1	+	3	753	c.181C>T	c.(181-183)Ctt>Ttt	p.L61F	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.L26F|ANO4_uc001thx.2_Missense_Mutation_p.L61F	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	61						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGTCAATATTCTTTTTGATGA	0.393000										HNSCC(74;0.22)				47			21		0	0	0.000586117	0	0
PCLO	27445	broad.mit.edu	37	7	82579500	82579500	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:82579500C>T	uc003uhx.2	-	5	10693	c.10404G>A	c.(10402-10404)gtG>gtA	p.V3468V	PCLO_uc003uhv.2_Silent_p.V3468V|PCLO_uc010lec.3_Silent_p.V433V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3399					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CGCTTGTATCCACACTCTTTT	0.438000														28			8		0	0	0.000274275	0	0
KIAA0240	23506	broad.mit.edu	37	6	42819858	42819858	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr6:42819858C>T	uc003osn.1	+	6	2019	c.1868C>T	c.(1867-1869)tCc>tTc	p.S623F	KIAA0240_uc003osm.1_Missense_Mutation_p.S623F|KIAA0240_uc011duw.1_Missense_Mutation_p.S623F|KIAA0240_uc003osp.1_Missense_Mutation_p.S623F	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	623										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			AATCAGACTTCCCCCATTTCT	0.438000														30			10		0	0	0.000673444	0	0
DMBX1	127343	broad.mit.edu	37	1	46976687	46976687	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:46976687G>A	uc001cpx.3	+	2	444	c.429G>A	c.(427-429)gaG>gaA	p.E143E	DMBX1_uc001cpw.3_Silent_p.E138E	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	143	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGCAGAAGGAGGCTGAGGGCT	0.647000														30			6		0	0	0.00198382	0	0
KRT78	196374	broad.mit.edu	37	12	53238453	53238453	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:53238453C>T	uc001sbc.1	-	4	875	c.811G>A	c.(811-813)Gac>Aac	p.D271N		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	271	Linker 12.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CGGTTGTTGTCCATGGACAGC	0.622000														19			5		0	0	0.000602214	0	0
PKD2L1	9033	broad.mit.edu	37	10	102054388	102054388	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:102054388G>A	uc001kqx.1	-	8	1946	c.1563C>T	c.(1561-1563)ctC>ctT	p.L521L	PKD2L1_uc009xwm.1_Silent_p.L474L	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	521					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CAAAGTCCCCGAGGATTATCC	0.517000														45			24		0	0	0.000720815	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995273	140995273	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chrX:140995273C>T	uc004fbt.3	+	3	2407	c.2083C>T	c.(2083-2085)Cct>Tct	p.P695S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P354S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	695							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCAAATTCCTCAGAGTCC	0.562000										HNSCC(15;0.026)				17			21		0	0	0.00229938	0	0
ABCA12	26154	broad.mit.edu	37	2	215809796	215809796	+	Silent	SNP	C	T	T	rs150309991		TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:215809796C>T	uc002vew.3	-	48	7492	c.7272G>A	c.(7270-7272)tcG>tcA	p.S2424S	ABCA12_uc002vev.3_Silent_p.S2106S|ABCA12_uc010zjn.2_Silent_p.S1351S	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2424	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.S2424S(2)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGTGCCGTTTCGACTTCGGAT	0.363000														26			8		0	0	0.000442599	0	0
IZUMO1	284359	broad.mit.edu	37	19	49244255	49244255	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr19:49244255G>A	uc002pkj.3	-	9	1511	c.963C>T	c.(961-963)ttC>ttT	p.F321F	RASIP1_uc002pki.3_5'Flank|IZUMO1_uc010eme.3_Non-coding_Transcript|IZUMO1_uc010emf.3_Non-coding_Transcript	NM_182575	NP_872381	Q8IYV9	IZUM1_HUMAN	Homo sapiens izumo sperm-egg fusion 1 (IZUMO1), mRNA.	321					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		AGGATTTGATGAAATCGATCA	0.512000														29			8		0	0	0.000673444	0	0
PRKCH	5583	broad.mit.edu	37	14	62016412	62016412	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr14:62016412G>A	uc001xfn.3	+	13	2220	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	PRKCH_uc010tsa.2_Missense_Mutation_p.E478K|PRKCH_uc010tsb.2_Missense_Mutation_p.E207K|PRKCH_uc001xfo.3_Non-coding_Transcript	NM_006255	NP_006246	P24723	KPCL_HUMAN	Homo sapiens protein kinase C, eta (PRKCH), mRNA.	639	AGC-kinase C-terminal.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		GAAATCCCGAGAAGATGTCAG	0.413000														48			24		0	0	0.00178596	0	0
WDR96	80217	broad.mit.edu	37	10	105953668	105953668	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:105953668G>A	uc001kxw.3	-	10	1514	c.1398C>T	c.(1396-1398)gtC>gtT	p.V466V	WDR96_uc001kxx.4_Silent_p.V467V|WDR96_uc001kxy.1_Silent_p.V467V	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	466										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCTTGTGCACGACCTGAGGGG	0.567000														43			10		0	0	0.000442599	0	0
ACD	65057	broad.mit.edu	37	16	67694229	67694229	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr16:67694229G>A	uc002etq.4	-	0	490	c.153C>T	c.(151-153)ctC>ctT	p.L51L	ACD_uc002etp.4_Silent_p.L51L|ACD_uc002etr.4_Silent_p.L51L|ACD_uc010vjt.1_Silent_p.L41L|PARD6A_uc002ett.3_5'Flank|PARD6A_uc002ets.3_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	Homo sapiens adrenocortical dysplasia homolog (mouse) (ACD), transcript variant 1, mRNA.	51					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGGGCCGGAGGAGGAGGCCCC	0.751000														8			5		0	0	0.00116845	0	0
CCDC151	115948	broad.mit.edu	37	19	11537855	11537855	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr19:11537855C>T	uc002mrs.3	-	3	593	c.450G>A	c.(448-450)ctG>ctA	p.L150L	CCDC151_uc002mrr.3_Silent_p.L85L|CCDC151_uc010dxz.3_Silent_p.L124L	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	Homo sapiens coiled-coil domain containing 151 (CCDC151), mRNA.	150										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CTAGGTGCTCCAGGGCCTGCC	0.652000														6			4		0	0	0.00024832	0	0
C7	730	broad.mit.edu	37	5	40958162	40958162	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr5:40958162G>A	uc003jmh.3	+	10	1402	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	430	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GCTGGTAAAGGAAGTACCTTG	0.393000														18			5		0	0	0.000602214	0	0
OR5D14	219436	broad.mit.edu	37	11	55563919	55563919	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:55563919T>G	uc010rim.2	+	0	888	c.888T>G	c.(886-888)aaT>aaG	p.N296K		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GCCTAAGGAATAAAGACGTGA	0.408000														22			14		0	0	0.000422831	0	0
SORL1	6653	broad.mit.edu	37	11	121429346	121429346	+	Missense_Mutation	SNP	C	T	T	rs148966249		TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:121429346C>T	uc001pxx.3	+	19	2839	c.2710C>T	c.(2710-2712)Cgg>Tgg	p.R904W		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	904					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGGGATTTATCGGAGCAATAT	0.507000														82			34		0	0	0.000953801	0	0
C12orf43	64897	broad.mit.edu	37	12	121442062	121442063	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:121442062_121442063CC>AA	uc009zxa.1	-	5	798_799	c.775_776GG>TT	c.(775-777)ggg>TTg	p.G259L	C12orf43_uc001tzh.1_Missense_Mutation_p.G228L|C12orf43_uc010szo.1_Missense_Mutation_p.G187L|C12orf43_uc010szp.1_Missense_Mutation_p.G218L|C12orf43_uc001tzi.1_Missense_Mutation_p.G229L	NM_022895	NP_075046	Q96C57	CL043_HUMAN	Homo sapiens chromosome 12 open reading frame 43 (C12orf43), mRNA.	228										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CACCTGGTCCCCGTTGAGCTCA	0.559000														590			15		0	0	6.4e-05	0	0
LEF1	51176	broad.mit.edu	37	4	109088923	109088923	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr4:109088923T>C	uc003hyt.2	-	0	1190	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	LEF1_uc011cfj.1_5'Flank|LEF1_uc011cfk.2_5'Flank|LEF1_uc003hyu.2_Missense_Mutation_p.M1V|LEF1_uc003hyv.2_Missense_Mutation_p.M1V|LEF1_uc010imb.2_Non-coding_Transcript|LOC641518_uc021xqn.1_Non-coding_Transcript	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	Homo sapiens lymphoid enhancer-binding factor 1 (LEF1), transcript variant 1, mRNA.	1	CTNNB1-binding (By similarity).				T-helper 1 cell differentiation|canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of DNA binding|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	cytoplasm|protein-DNA complex|transcription factor complex	C2H2 zinc finger domain binding|DNA bending activity|armadillo repeat domain binding|beta-catenin binding|caspase inhibitor activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		AGTTGGGGCATCCCGGCGGCT	0.652000														41			7		0	0	0.00198382	0	0
OR2L8	391190	broad.mit.edu	37	1	248112820	248112820	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:248112820C>T	uc001idt.1	+	0	661	c.661C>T	c.(661-663)Ctc>Ttc	p.L221F	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TGGCCAGGTTCTCTTTGCTGT	0.468000														63			11		0	0	0.00244969	0	0
MYO7B	4648	broad.mit.edu	37	2	128327450	128327450	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:128327450A>G	uc002top.3	+	5	610	c.557A>G	c.(556-558)gAg>gGg	p.E186G		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	186	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TCGTGGATTGAGCAGCAGGTC	0.627000														13			6		0	0	0.00116845	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				74			31		5.60225e-13	2.66758e-12	0.00178596	1	0
TRIM49C	642612	broad.mit.edu	37	11	89768518	89768518	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:89768518C>T	uc010rua.2	+	2	468	c.139C>T	c.(139-141)Cca>Tca	p.P47S		NM_001195234	NP_001182163	P0CI26	T49L2_HUMAN	Homo sapiens tripartite motif containing 49-like 2 (TRIM49L2), mRNA.	47						intracellular	zinc ion binding			endometrium(3)|kidney(1)|lung(4)	8						GCAAGACATCCCATTTCTTGT	0.463000														17			7		0	0	0.000566183	0	0
PARD3B	117583	broad.mit.edu	37	2	205986532	205986532	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:205986532G>A	uc002var.2	+	7	1231	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N	PARD3B_uc010fub.2_Missense_Mutation_p.D342N|PARD3B_uc002vao.2_Missense_Mutation_p.D342N|PARD3B_uc002vap.2_Missense_Mutation_p.D342N|PARD3B_uc002vaq.2_Missense_Mutation_p.D342N	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	342					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TCCTGAAACAGATGCATCAGC	0.493000														15			8		0	0	0.000442599	0	0
THSD4	79875	broad.mit.edu	37	15	71447252	71447252	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr15:71447252C>T	uc002atb.1	+	1	159	c.80C>T	c.(79-81)cCc>cTc	p.P27L		NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	27						proteinaceous extracellular matrix	metalloendopeptidase activity	p.Q26Q(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGCCCACAGCCCTCCACTCAA	0.532000														37			9		0	0	0.000274275	0	0
SLC16A9	220963	broad.mit.edu	37	10	61443922	61443922	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:61443922G>A	uc010qig.1	-	1	577	c.128C>T	c.(127-129)gCc>gTc	p.A43V		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	43					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						TTCACCAAAGGCATCCAGCCA	0.473000														72			32		0	0	0.00128727	0	0
FCRL5	83416	broad.mit.edu	37	1	157494225	157494225	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:157494225G>A	uc009wsm.3	-	9	2241	c.2083C>T	c.(2083-2085)Cat>Tat	p.H695Y	FCRL5_uc001fqu.3_Missense_Mutation_p.H695Y|FCRL5_uc010phv.1_Missense_Mutation_p.H695Y|FCRL5_uc010phw.1_Missense_Mutation_p.H610Y	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	695	Ig-like C2-type 7.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACATCTTCATGATAAAACCAG	0.572000														31			11		0	0	0.00136819	0	0
LANCL2	55915	broad.mit.edu	37	7	55468953	55468953	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:55468953C>T	uc003tqp.3	+	4	1343	c.765C>T	c.(763-765)caC>caT	p.H255H		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 2 (bacterial) (LANCL2), mRNA.	255					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|GTP binding|catalytic activity|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			ACCAGTGGCACCGGAAGCAGT	0.438000														28			15		0	0	0.000422831	0	0
DECR1	1666	broad.mit.edu	37	8	91031344	91031345	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr8:91031344_91031345CC>TT	uc003yek.1	+	3	502_503	c.361_362CC>TT	c.(361-363)cct>TTt	p.P121F	DECR1_uc011lgc.1_Missense_Mutation_p.P112F|DECR1_uc011lgd.1_Non-coding_Transcript	NM_001359	NP_001350	Q16698	DECR_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 1, mitochondrial (DECR1), nuclear gene encoding mitochondrial protein, mRNA.	121					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TGTGAGGGATCCTGATATGGTT	0.366000														31			9		0	0	6.4e-05	0	0
MYO5B	4645	broad.mit.edu	37	18	47511133	47511133	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr18:47511133C>T	uc002leb.2	-	7	1189	c.901G>A	c.(901-903)Gat>Aat	p.D301N	MYO5B_uc021ukb.1_Missense_Mutation_p.D300N	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	301	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.D301N(2)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCCTCAGCATCGTCCACACCC	0.552000														37			26		0	0	0.00106085	0	0
OR4K1	79544	broad.mit.edu	37	14	20404233	20404233	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr14:20404233G>A	uc001vwj.2	+	0	467	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTACAATTATGAACCGGAGGC	0.443000														35			15		0	0	0.000308642	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12823142	12823142	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr17:12823142G>A	uc002gnr.4	+	5	785	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	ARHGAP44_uc010vvk.2_Missense_Mutation_p.R153Q|ARHGAP44_uc010vvl.2_Missense_Mutation_p.R153Q|ARHGAP44_uc002gns.4_5'UTR|ARHGAP44_uc010vvm.2_Missense_Mutation_p.R153Q|ARHGAP44_uc010vvn.2_Non-coding_Transcript	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	153	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GATTCCTCACGAACCAGGTAG	0.393000														6			4		0	0	0.00024832	0	0
TLR9	54106	broad.mit.edu	37	3	52255379	52255379	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:52255379G>A	uc003ddb.3	-	4	3454	c.3244C>T	c.(3244-3246)Cag>Tag	p.Q1082*	TLR9_uc003dda.2_Nonsense_Mutation_p.Q985*	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	985					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CAGAGGCGCTGGCGCAGCCGC	0.711000														20			7		0	0	0.00198382	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74492592	74492592	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:74492592C>T	uc001dfy.4	-	7	1972	c.1780G>A	c.(1780-1782)Gaa>Aaa	p.E594K	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	594										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CAGGCTTTTTCAAAGGCAATC	0.289000														24			5		0	0	0.00116845	0	0
PAQR3	152559	broad.mit.edu	37	4	79845036	79845036	+	Silent	SNP	G	C	C			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr4:79845036G>C	uc003hlp.1	-	4	972	c.768C>G	c.(766-768)tcC>tcG	p.S256S	PAQR3_uc003hlm.3_Non-coding_Transcript|PAQR3_uc003hln.3_Non-coding_Transcript|PAQR3_uc003hlq.1_Silent_p.S138S	NM_001040202	NP_001035292	Q6TCH7	PAQR3_HUMAN	Homo sapiens progestin and adipoQ receptor family member III (PAQR3), mRNA.	256						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						CTGGGACTTTGGAAATGTAGA	0.378000														45			12		0	0	0.000308642	0	0
SFSWAP	6433	broad.mit.edu	37	12	132237735	132237736	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:132237735_132237736CC>TT	uc001uja.1	+	7	1289_1290	c.1149_1150CC>TT	c.(1147-1152)ccccct>ccTTct	p.P384S	SFSWAP_uc010tbn.1_Missense_Mutation_p.P384S|SFSWAP_uc001ujb.1_Missense_Mutation_p.P177S|SFSWAP_uc001uiz.1_Missense_Mutation_p.P258S	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA.	384	Poly-Pro.				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						TGGCGCCGCCCCCTCCCGGAAT	0.619000														72			14		0	0	6.4e-05	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656052	40656053	+	Missense_Mutation	DNP	AA	TT	TT			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:40656052_40656053AA>TT	uc002rrx.3	-	0	1392_1393	c.1368_1369TT>AA	c.(1366-1371)gattat>gaAAat	p.456_457DY>EN	SLC8A1_uc002rry.3_Missense_Mutation_p.456_457DY>EN|SLC8A1_uc002rsb.2_Missense_Mutation_p.456_457DY>EN|SLC8A1_uc002rrz.3_Missense_Mutation_p.456_457DY>EN|SLC8A1_uc002rsa.3_Missense_Mutation_p.456_457DY>EN|SLC8A1_uc002rsd.4_Missense_Mutation_p.456_457DY>EN|SLC8A1_uc010fan.1_Missense_Mutation_p.456_457DY>EN|SLC8A1_uc002rsc.1_Missense_Mutation_p.456_457DY>EN	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	456	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTAAATTCATAATCAGACCCAG	0.431000														19			8		0	0	6.4e-05	0	0
PCDH15	65217	broad.mit.edu	37	10	55581682	55581682	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:55581682C>T	uc010qhy.1	-	34	6220	c.5825G>A	c.(5824-5826)gGg>gAg	p.G1942E	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Missense_Mutation_p.G789E|PCDH15_uc021pqy.1_Missense_Mutation_p.G1937E|PCDH15_uc021pqz.1_Missense_Mutation_p.G1912E|PCDH15_uc010qhv.1_Missense_Mutation_p.G1932E|PCDH15_uc010qhw.1_Missense_Mutation_p.G1895E|PCDH15_uc010qhx.1_Missense_Mutation_p.G1866E|PCDH15_uc010qhz.1_Missense_Mutation_p.G1937E|PCDH15_uc010qia.1_Missense_Mutation_p.G1915E|PCDH15_uc001jju.1_Missense_Mutation_p.G1935E|PCDH15_uc010qib.1_Missense_Mutation_p.G1912E	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1935					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTCAAACTCCCCTTGTTTTG	0.353000										HNSCC(58;0.16)				49			14		0	0	0.00185496	0	0
C15orf2	23742	broad.mit.edu	37	15	24923674	24923674	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr15:24923674C>T	uc001ywo.3	+	0	3134	c.2660C>T	c.(2659-2661)tCc>tTc	p.S887F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	887					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		ACCACAACTTCCAGCCATCCT	0.502000														73			23		0	0	0.00278032	0	0
ZAP70	7535	broad.mit.edu	37	2	98351794	98351794	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:98351794G>T	uc002syd.1	+	9	1371	c.1164G>T	c.(1162-1164)caG>caT	p.Q388H	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.Q278H|ZAP70_uc002syf.1_Missense_Mutation_p.Q81H	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	388	Protein kinase.				T cell receptor signaling pathway|immune response|intracellular protein kinase cascade|positive thymic T cell selection	T cell receptor complex|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GCGAGGCGCAGATCATGCACC	0.657000														51			22		1.22574e-08	5.81959e-08	0.00229938	1	0
PSD3	23362	broad.mit.edu	37	8	18729517	18729517	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr8:18729517C>T	uc003wza.3	-	2	960	c.857G>A	c.(856-858)cGa>cAa	p.R286Q		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	286					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GGAGCTGCTTCGATCACATCC	0.562000														46			14		0	0	0.00244969	0	0
MARC2	54996	broad.mit.edu	37	1	220953378	220953378	+	Silent	SNP	C	T	T	rs140582959	by1000genomes	TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:220953378C>T	uc001hmq.3	+	4	967	c.769C>T	c.(769-771)Cta>Tta	p.L257L	MARC2_uc001hmr.3_Silent_p.L257L|MARC2_uc009xdx.3_Intron	NM_017898	NP_060368	Q969Z3	MOSC2_HUMAN	Homo sapiens mitochondrial amidoxime reducing component 2 (MARC2), nuclear gene encoding mitochondrial protein, mRNA.	257	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										GGATGAACTCCTAATTGGTAG	0.423000														29			14		0	0	0.000308642	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47564916	47564916	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:47564916G>A	uc001cqu.1	+	7	1030	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	343						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						ATGCCGAGATGAAATCAGGGA	0.438000														19			8		0	0	0.000157383	0	0
ODZ3	55714	broad.mit.edu	37	4	183664404	183664404	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr4:183664404G>A	uc003ivd.1	+	17	3536	c.3461G>A	c.(3460-3462)cGa>cAa	p.R1154Q	ODZ3_uc003ive.1_Missense_Mutation_p.R560Q	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1154					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GGCAATGGGCGAAGGCGCAGC	0.522000														23			7		0	0	0.000274275	0	0
NOX4	50507	broad.mit.edu	37	11	89182645	89182645	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:89182645G>A	uc001pct.3	-	3	551	c.312C>T	c.(310-312)ttC>ttT	p.F104F	NOX4_uc009yvr.3_Silent_p.F79F|NOX4_uc001pcu.3_Silent_p.F30F|NOX4_uc001pcw.3_Intron|NOX4_uc001pcx.3_Intron|NOX4_uc001pcv.3_Silent_p.F104F|NOX4_uc009yvo.3_Non-coding_Transcript|NOX4_uc010rtu.2_Intron|NOX4_uc009yvp.3_Silent_p.F104F|NOX4_uc010rtv.2_Silent_p.F80F|NOX4_uc009yvq.3_Silent_p.F80F|NOX4_uc009yvs.1_Non-coding_Transcript	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	104	Ferric oxidoreductase.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|heme binding|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGGTAATATGGAATGTTCTGC	0.303000														32			10		0	0	0.000673444	0	0
TFDP2	7029	broad.mit.edu	37	3	141724290	141724290	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:141724290G>A	uc003eun.4	-	3	633	c.179C>T	c.(178-180)cCc>cTc	p.P60L	TFDP2_uc003eul.4_5'UTR|TFDP2_uc011bnf.2_Missense_Mutation_p.P4S|TFDP2_uc011bng.2_Intron|TFDP2_uc003eum.4_5'UTR|TFDP2_uc003euo.3_Non-coding_Transcript	NM_001178139	NP_001171613	Q14188	TFDP2_HUMAN	Homo sapiens transcription factor Dp-2 (E2F dimerization partner 2) (TFDP2), transcript variant 3, mRNA.	60					cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)|upper_aerodigestive_tract(2)	3						TACCATTTGGGGTCCAACATT	0.303000														10			4		0	0	0.00024832	0	0
ANP32C	23520	broad.mit.edu	37	4	165118440	165118440	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr4:165118440C>T	uc011cjk.2	-	0	424	c.424G>A	c.(424-426)Gac>Aac	p.D142N	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	142								p.D142V(1)		NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		TAACAGCTGTCGAGATATGTG	0.507000														65			18		0	0	0.00074312	0	0
FCRL3	115352	broad.mit.edu	37	1	157659629	157659629	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:157659629G>A	uc001fqz.4	-	9	2061	c.1769C>T	c.(1768-1770)gCt>gTt	p.A590V	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Missense_Mutation_p.A316V|FCRL3_uc001frb.3_Missense_Mutation_p.A590V|FCRL3_uc001frc.1_Missense_Mutation_p.A590V	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	590						integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CAGAGCAGCAGCAGCAGCAAG	0.542000														23			4		0	0	0.00024832	0	0
BDKRB2	624	broad.mit.edu	37	14	96706842	96706842	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr14:96706842C>T	uc010avm.1	+	2	373	c.177C>T	c.(175-177)atC>atT	p.I59I	BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Silent_p.I32I|BDKRB2_uc001yfg.2_Silent_p.I59I	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	59					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		TCAACACCATCCAGCCCCCCT	0.597000														90			27		0	0	0.000878237	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926476	157926476	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:157926476C>T	uc003wno.3	-	8	1570	c.1449G>A	c.(1447-1449)gaG>gaA	p.E483E	PTPRN2_uc003wnp.3_Silent_p.E466E|PTPRN2_uc003wnq.3_Silent_p.E483E|PTPRN2_uc003wnr.3_Silent_p.E445E|PTPRN2_uc011kwa.2_Silent_p.E506E	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	483						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGCTCTGCTCCTCCTTCGAGG	0.647000														23			16		0	0	0.000566183	0	0
MUC17	140453	broad.mit.edu	37	7	100685895	100685895	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:100685895C>T	uc003uxp.1	+	2	11251	c.11198C>T	c.(11197-11199)tCa>tTa	p.S3733L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3733	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S3733*(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGCCATTTCATCTTCTGCA	0.507000														84			42		0	0	0.000680045	0	0
ADNP2	22850	broad.mit.edu	37	18	77894726	77894726	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr18:77894726C>T	uc002lnw.3	+	3	1885	c.1430C>T	c.(1429-1431)cCt>cTt	p.P477L		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	477					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GGGGTTCTTCCTACTGGCCAG	0.597000														27			9		0	0	0.000673444	0	0
GLRA2	2742	broad.mit.edu	37	X	14625275	14625275	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chrX:14625275G>A	uc010neq.3	+	5	1360	c.600G>A	c.(598-600)ctG>ctA	p.L200L	GLRA2_uc004cwe.4_Silent_p.L200L|GLRA2_uc011mio.2_Silent_p.L111L|GLRA2_uc010nep.3_Silent_p.L200L|GLRA2_uc011mip.2_Silent_p.L178L	NM_002063	NP_002054	P23416	GLRA2_HUMAN	Homo sapiens glycine receptor, alpha 2 (GLRA2), transcript variant 1, mRNA.	200					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	TGAATGACCTGATATTTGAGT	0.393000														20			20		0	0	0.00152264	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106096799	106096799	+	Silent	SNP	T	G	G			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chrX:106096799T>G	uc004emo.3	+	12	2337	c.2172T>G	c.(2170-2172)gtT>gtG	p.V724V	MORC4_uc004emp.4_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	724						intracellular	Rab GTPase activator activity|calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTTCAAATGTTCAGCAAGGTT	0.323000														21			25		0	0	0.000586117	0	0
DSC1	1823	broad.mit.edu	37	18	28712616	28712616	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr18:28712616C>T	uc002kwn.3	-	13	2415	c.2153G>A	c.(2152-2154)aGa>aAa	p.R718K	DSC1_uc002kwm.3_Missense_Mutation_p.R718K	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	718					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.R718I(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CTTGACTGTTCTCTTAGCAGT	0.313000														22			12		0	0	0.000978159	0	0
MYO18B	84700	broad.mit.edu	37	22	26423441	26423441	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr22:26423441G>A	uc003abz.1	+	42	7751	c.7501G>A	c.(7501-7503)Gat>Aat	p.D2501N	MYO18B_uc003aca.1_Missense_Mutation_p.D2382N|MYO18B_uc010guy.1_Missense_Mutation_p.D2383N|MYO18B_uc010guz.1_Missense_Mutation_p.D2381N|MYO18B_uc011aka.1_Missense_Mutation_p.D1655N|MYO18B_uc011akb.1_Missense_Mutation_p.D2014N|MYO18B_uc010gva.1_Missense_Mutation_p.D484N|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2501						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCCCAAGGAGGATCCCGCTCA	0.532000														8			8		0	0	0.000274275	0	0
KEL	3792	broad.mit.edu	37	7	142649676	142649676	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:142649676G>A	uc003wcb.3	-	9	1333	c.1123C>T	c.(1123-1125)Cca>Tca	p.P375S		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	375					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TCCAGGGCTGGAGAAAGGGTC	0.552000														24			9		0	0	0.000274275	0	0
HRH3	11255	broad.mit.edu	37	20	60794874	60794874	+	Silent	SNP	G	C	C			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr20:60794874G>C	uc002yci.3	-	0	450	c.153C>G	c.(151-153)ggC>ggG	p.G51G	HRH3_uc002ycf.2_Silent_p.G51G|HRH3_uc002ych.3_Silent_p.G51G|HRH3_uc002ycg.3_Silent_p.G51G	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	Homo sapiens histamine receptor H3 (HRH3), mRNA.	51					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	CCAGCGCGTTGCCCAGCACCG	0.706000														9			4		0	0	0.00024832	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762117	92762117	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:92762117G>A	uc003umh.1	-	4	4384	c.3168C>T	c.(3166-3168)tcC>tcT	p.S1056S	SAMD9L_uc003umj.1_Silent_p.S1056S|SAMD9L_uc003umi.1_Silent_p.S1056S|SAMD9L_uc010lfb.1_Silent_p.S1056S|SAMD9L_uc003umk.1_Silent_p.S1056S|SAMD9L_uc010lfc.1_Silent_p.S1056S|SAMD9L_uc010lfd.1_Silent_p.S1056S|SAMD9L_uc022ahh.1_Silent_p.S1056S	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1056										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CCATTAATGGGGAAAACAGAG	0.388000														44			20		0	0	0.000958276	0	0
SYTL4	94121	broad.mit.edu	37	X	99956964	99956964	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chrX:99956964G>A	uc004egd.4	-	3	426	c.70C>T	c.(70-72)Cga>Tga	p.R24*	SYTL4_uc010nnc.3_Nonsense_Mutation_p.R24*|SYTL4_uc004ege.4_Nonsense_Mutation_p.R24*|SYTL4_uc004egf.4_Nonsense_Mutation_p.R24*|SYTL4_uc004egg.4_Nonsense_Mutation_p.R24*	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	24	RabBD.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding	p.R24Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTTCATCTCGCTGTAGAACA	0.438000														7			5		0	0	0.000157383	0	0
KRT31	3881	broad.mit.edu	37	17	39551128	39551129	+	Missense_Mutation	DNP	GG	AA	AA	rs143943601		TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr17:39551128_39551129GG>AA	uc002hwn.3	-	5	1121_1122	c.1068_1069CC>TT	c.(1066-1071)taccgg>taTTgg	p.R357W	KRT31_uc010cxn.3_Missense_Mutation_p.R357W	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	357	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				AGCAGGCTCCGGTATGTGTTGA	0.559000														65			25		0	0	6.4e-05	0	0
PTCHD2	57540	broad.mit.edu	37	1	11595677	11595677	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:11595677G>A	uc001ash.4	+	19	3930	c.3792G>A	c.(3790-3792)gaG>gaA	p.E1264E		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	1264					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.E1481E(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TGGCTGGAGAGAACCTGCCCC	0.657000														30			8		0	0	0.000442599	0	0
OR5F1	338674	broad.mit.edu	37	11	55761808	55761808	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:55761808G>A	uc010riv.2	-	0	294	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C97F(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					ACATCTGTAGGAAGCAGCCAG	0.468000														46			15		0	0	0.000422831	0	0
NEBL	10529	broad.mit.edu	37	10	21074831	21074831	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:21074831C>T	uc001iqi.3	-	27	3287	c.2890G>A	c.(2890-2892)Gat>Aat	p.D964N	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Missense_Mutation_p.D220N|NEBL_uc021pnu.1_Missense_Mutation_p.R219Q	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	964	SH3.				regulation of actin filament length		actin binding|structural constituent of muscle	p.Y963Y(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCACTGTAATCGTACATGGCT	0.502000														47			21		0	0	0.000878237	0	0
ADAP2	55803	broad.mit.edu	37	17	29284864	29284864	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr17:29284864G>A	uc010csk.3	+	10	1420	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	ADAP2_uc002hfy.3_Missense_Mutation_p.E374K|ADAP2_uc010csl.3_Non-coding_Transcript|ADAP2_uc002hfx.3_Missense_Mutation_p.E375K	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	Homo sapiens ArfGAP with dual PH domains 2 (ADAP2), mRNA.	375					heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TGCATCAACAGAGAGTGGCCG	0.572000														7			3		0	0	6.4e-05	0	0
C11orf41	25758	broad.mit.edu	37	11	33566325	33566325	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:33566325C>T	uc021qfs.1	+	1	2019	c.1895C>T	c.(1894-1896)tCa>tTa	p.S632L	C11orf41_uc001mun.1_Missense_Mutation_p.S638L	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	632						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						GACACAGTATCATCTAAGGTA	0.463000														15			9		0	0	0.000274275	0	0
FIBCD1	84929	broad.mit.edu	37	9	133780666	133780666	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:133780666C>T	uc004bzz.3	-	5	1326	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	FIBCD1_uc011mcc.2_Missense_Mutation_p.E361K	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	Homo sapiens fibrinogen C domain containing 1 (FIBCD1), transcript variant 1, mRNA.	361	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		TACCCGTCTTCCTCAGGGTCC	0.652000														19			4		0	0	0.00024832	0	0
ZNF816	125893	broad.mit.edu	37	19	53454132	53454132	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr19:53454132G>A	uc002qal.2	-	4	1247	c.896C>T	c.(895-897)tCc>tTc	p.S299F	ZNF816_uc010eqj.3_Intron|ZNF816_uc002qak.2_Intron|ZNF816_uc021uzc.1_Missense_Mutation_p.S299F|ZNF816_uc002qam.2_Missense_Mutation_p.S299F	NM_001031665	NP_001189386	Q0VGE8	ZN816_HUMAN	Homo sapiens zinc finger protein 816 (ZNF816), transcript variant 1, mRNA.	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GCATACAAGGGATGACATCTG	0.408000														53			24		0	0	0.00278032	0	0
KLHL5	51088	broad.mit.edu	37	4	39114659	39114659	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr4:39114659C>T	uc003gtr.2	+	8	2129	c.1846C>T	c.(1846-1848)Cgt>Tgt	p.R616C	KLHL5_uc003gtp.3_Missense_Mutation_p.R570C|KLHL5_uc003gtq.3_Missense_Mutation_p.R429C|KLHL5_uc003gts.3_Missense_Mutation_p.R616C|KLHL5_uc003gtt.3_Missense_Mutation_p.R555C	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	Homo sapiens kelch-like 5 (Drosophila) (KLHL5), transcript variant 1, mRNA.	616						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						AGTTGGTGGTCGTGATGGAAG	0.378000														27			11		0	0	0.00136819	0	0
NLRP5	126206	broad.mit.edu	37	19	56538530	56538530	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr19:56538530G>A	uc002qmj.3	+	6	931	c.931G>A	c.(931-933)Gga>Aga	p.G311R	NLRP5_uc002qmi.3_Missense_Mutation_p.G292R	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	311	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACTCTACCAGGGAATGTTCTC	0.572000														6			3		0	0	6.4e-05	0	0
SGCZ	137868	broad.mit.edu	37	8	13959988	13959988	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr8:13959988G>A	uc003wwq.3	-	6	1301	c.641C>T	c.(640-642)tCc>tTc	p.S214F	SGCZ_uc010lss.3_Missense_Mutation_p.S167F	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	201					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CATGATCAAGGATCTGGTGGG	0.413000														14			8		0	0	0.000157383	0	0
TTN	7273	broad.mit.edu	37	2	179579825	179579825	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:179579825G>A	uc021vsy.1	-	86	22581	c.22356C>T	c.(22354-22356)ttC>ttT	p.F7452F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F4113F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8379	Ig-like 56.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACTGGTTAGGAAGTTCTCAG	0.453000														132			40		0	0	0.00222228	0	0
AMBP	259	broad.mit.edu	37	9	116835233	116835233	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:116835233C>T	uc004bie.4	-	4	791	c.528G>A	c.(526-528)gaG>gaA	p.E176E	AMBP_uc011lxk.2_Silent_p.E117E|AMBP_uc010mvc.1_Non-coding_Transcript	NM_001633	NP_001624	P02760	AMBP_HUMAN	Homo sapiens alpha-1-microglobulin/bikunin precursor (AMBP), mRNA.	176					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of JNK cascade|negative regulation of immune response|protein-chromophore linkage	extracellular region|plasma membrane	IgA binding|calcium channel inhibitor activity|calcium oxalate binding|heme binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AGATGGAGTCCTCAGGGATGC	0.627000														7			4		0	0	0.00116845	0	0
HYDIN	54768	broad.mit.edu	37	16	70917898	70917898	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr16:70917898C>T	uc002ezr.3	-	58	10052	c.9901G>A	c.(9901-9903)Gat>Aat	p.D3301N		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3302										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCGGAGATATCGATGGCTATA	0.547000														31			5		0	0	0.00116845	0	0
ELMO2	63916	broad.mit.edu	37	20	45015985	45015985	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr20:45015985T>C	uc010zxr.1	-	7	727	c.517A>G	c.(517-519)Att>Gtt	p.I173V	ELMO2_uc002xrt.1_Missense_Mutation_p.I173V|ELMO2_uc002xru.1_Missense_Mutation_p.I173V|ELMO2_uc010zxs.1_Intron|ELMO2_uc002xrw.3_5'Flank|ELMO2_uc002xrx.1_Missense_Mutation_p.I173V	NM_182764	NP_877496	Q96JJ3	ELMO2_HUMAN	Homo sapiens engulfment and cell motility 2 (ELMO2), transcript variant 2, mRNA.	173					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	SH3 domain binding|lyase activity|receptor tyrosine kinase binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				ACCTGCTTAATAAAGGTGATT	0.507000														13			5		0	0	0.00198382	0	0
KLHL1	57626	broad.mit.edu	37	13	70314608	70314608	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr13:70314608C>T	uc001vip.3	-	7	2514	c.1720G>A	c.(1720-1722)Gat>Aat	p.D574N	KLHL1_uc010thm.2_Missense_Mutation_p.D513N	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	574					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTCTGTGGATCCCACCTTTCC	0.413000														15			14		0	0	0.000308642	0	0
ROR2	4920	broad.mit.edu	37	9	94487360	94487360	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:94487360C>T	uc004arj.2	-	8	1615	c.1416G>A	c.(1414-1416)gcG>gcA	p.A472A	ROR2_uc004ari.1_Silent_p.A332A	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	472					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGAACCTCACCGCAGACAGGC	0.597000														117			51		0	0	0.000781405	0	0
IKZF1	10320	broad.mit.edu	37	7	50455127	50455128	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:50455127_50455128AC>TT	uc003tow.4	+	5	829_830	c.674_675AC>TT	c.(673-675)aac>aTT	p.N225I	IKZF1_uc022acq.1_Intron|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Intron|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Missense_Mutation_p.N138I|IKZF1_uc022acu.1_Missense_Mutation_p.N138I|IKZF1_uc003tox.4_Intron|IKZF1_uc022acv.1_Intron|IKZF1_uc022acw.1_Intron|IKZF1_uc022acx.1_Intron|IKZF1_uc022acy.1_Missense_Mutation_p.N42I|IKZF1_uc022acz.1_Missense_Mutation_p.N42I|IKZF1_uc011kck.2_Missense_Mutation_p.N138I|IKZF1_uc003toy.4_Intron|IKZF1_uc003toz.4_Missense_Mutation_p.N195I|IKZF1_uc010kyx.3_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	225					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)|p.H224fs*?(1)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CGCTGCCACAACTACTTGGAAA	0.545000			"""D,T"""	BCL6	"""ALL, DLBCL"""									9			6		0	0	6.4e-05	0	0
ABCA4	24	broad.mit.edu	37	1	94505682	94505682	+	Splice_Site	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:94505682C>T	uc001dqh.3	-	24	3627	c.3523_splice	c.e24-1	p.G1175_splice		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1175					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GCTGCAGGTCCCCTGCAACAG	0.552000											OREG0013610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			4		0	0	0.000602214	0	0
TFPI2	7980	broad.mit.edu	37	7	93516148	93516148	+	Missense_Mutation	SNP	C	T	T	rs12669450		TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:93516148C>T	uc003umy.1	-	4	767	c.692G>A	c.(691-693)cGg>cAg	p.R231Q	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_3'UTR|TFPI2_uc003una.1_Missense_Mutation_p.R220Q	NM_006528	NP_006519	P48307	TFPI2_HUMAN	Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.	231			R -> Q (in dbSNP:rs12669450).		blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TTGCTTCTTCCGAATTTTCCG	0.328000														70			25		0	0	0.00106085	0	0
MARCH1	55016	broad.mit.edu	37	4	164450167	164450167	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr4:164450167C>T	uc003iqs.2	-	7	785	c.603G>A	c.(601-603)ctG>ctA	p.L201L	MARCH1_uc003iqr.2_Silent_p.L184L	NM_001166373	NP_001159845	Q8TCQ1	MARH1_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 1 (MARCH1), transcript variant 1, mRNA.	201					antigen processing and presentation of peptide antigen via MHC class II|immune response	Golgi apparatus|cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTACCACAACCAGTTTTGTCC	0.423000														12			5		0	0	0.00116845	0	0
BEND4	389206	broad.mit.edu	37	4	42127619	42127619	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr4:42127619G>A	uc003gwn.3	-	3	1707	c.1127C>T	c.(1126-1128)cCa>cTa	p.P376L	BEND4_uc003gwm.3_Missense_Mutation_p.P376L|BEND4_uc011byy.1_Missense_Mutation_p.P376L	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA.	376										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						CTGGTCAGCTGGCTGTGGTAT	0.443000														25			8		0	0	0.00136819	0	0
CAPN1	823	broad.mit.edu	37	11	64951035	64951035	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:64951035A>T	uc009yqd.2	+	3	625	c.428A>T	c.(427-429)aAt>aTt	p.N143I	CAPN1_uc001odf.2_Missense_Mutation_p.N143I|CAPN1_uc001odg.2_Missense_Mutation_p.N143I|CAPN1_uc010roa.2_5'UTR	NM_001198868	NP_001185797	P07384	CAN1_HUMAN	Homo sapiens calpain 1, (mu/I) large subunit (CAPN1), transcript variant 1, mRNA.	143	Calpain catalytic.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		AGCTTCCAGAATGGCTATGCC	0.647000														15			5		0	0	0.000602214	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118228729	118228729	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:118228729C>G	uc001lcl.4	+	8	1061	c.960C>G	c.(958-960)tgC>tgG	p.C320W		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	Homo sapiens pancreatic lipase-related protein 3 (PNLIPRP3), mRNA.	320					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AAGAAGGTTGCCCAACAATGG	0.353000														24			9		0	0	0.000442599	0	0
DDX17	10521	broad.mit.edu	37	22	38884057	38884057	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr22:38884057T>C	uc003avy.4	-	11	1614	c.1511A>G	c.(1510-1512)cAc>cGc	p.H504R	DDX17_uc003avw.4_5'UTR|DDX17_uc003avx.4_Missense_Mutation_p.H504R	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	425					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GCCAATACGGTGCACATAATC	0.478000														50			19		0	0	0.00121646	0	0
LOXL2	4017	broad.mit.edu	37	8	23185951	23185951	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr8:23185951C>T	uc003xdh.1	-	5	1433	c.1094G>A	c.(1093-1095)aGa>aAa	p.R365K		NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	365	SRCR 3.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GCCCAGCTCTCTGCAGACCAC	0.627000														21			15		0	0	0.000308642	0	0
DSE	29940	broad.mit.edu	37	6	116752203	116752203	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr6:116752203G>A	uc011ebg.2	+	3	913	c.814G>A	c.(814-816)Ggc>Agc	p.G272S	DSE_uc003pws.3_Missense_Mutation_p.G253S|DSE_uc003pwt.3_Missense_Mutation_p.G253S|DSE_uc003pwu.3_5'Flank	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	253					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		GGTGACGGATGGCTCCCTCTA	0.463000														27			20		0	0	0.00229938	0	0
TACR3	6870	broad.mit.edu	37	4	104640509	104640509	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr4:104640509C>T	uc003hxe.1	-	0	465	c.324G>A	c.(322-324)tgG>tgA	p.W108*		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	108						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CCAGGATGATCCAGATGACGA	0.582000														40			10		0	0	0.000442599	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73932550	73932550	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:73932550G>A	uc003uaq.3	+	4	896	c.503G>A	c.(502-504)gGg>gAg	p.G168E	GTF2IRD1_uc010lbq.3_Missense_Mutation_p.G200E|GTF2IRD1_uc003uap.3_Missense_Mutation_p.G168E|GTF2IRD1_uc003uar.1_Missense_Mutation_p.G168E	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	168						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCCGTGCAGGGGCTGCCCGAA	0.667000														15			5		0	0	0.000602214	0	0
LIPE	3991	broad.mit.edu	37	19	42930475	42930475	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr19:42930475C>T	uc002otr.3	-	0	1104	c.827G>A	c.(826-828)gGg>gAg	p.G276E	AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|LIPE_uc002ots.1_5'Flank	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	276					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TGGCGACGTCCCACTGTATCC	0.502000														72			22		0	0	0.000878237	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123645789	123645789	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:123645789G>A	uc001uel.3	-	17	2927	c.2819C>T	c.(2818-2820)cCg>cTg	p.P940L	MPHOSPH9_uc010tal.2_Missense_Mutation_p.P394L|MPHOSPH9_uc010tam.2_Non-coding_Transcript|MPHOSPH9_uc001uem.3_Missense_Mutation_p.P394L	NM_022782	NP_073619	Q99550	MPP9_HUMAN	Homo sapiens M-phase phosphoprotein 9 (MPHOSPH9), mRNA.	940					M phase of mitotic cell cycle	Golgi membrane|centriole				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GACTGAAACCGGCTTACACTG	0.418000														44			12		0	0	0.000978159	0	0
MYH1	4619	broad.mit.edu	37	17	10395819	10395819	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr17:10395819C>T	uc002gmo.3	-	39	5828	c.5734G>A	c.(5734-5736)Gaa>Aaa	p.E1912K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1912						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCAGCCCGTTCCTCGGCCTCC	0.483000														30			30		0	0	0.00178596	0	0
COL25A1	84570	broad.mit.edu	37	4	110223112	110223112	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr4:110223112G>A	uc021xqo.1	-	0	120	c.64C>T	c.(64-66)Cct>Tct	p.P22S	COL25A1_uc003hze.1_Missense_Mutation_p.P22S|COL25A1_uc021xqp.1_Missense_Mutation_p.P22S|COL25A1_uc003hzg.3_Missense_Mutation_p.P22S|COL25A1_uc003hzh.1_Missense_Mutation_p.P22S	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	22						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TGTTCGGCAGGGGTCGGGTCC	0.682000														34			12		0	0	0.00136819	0	0
SARS	6301	broad.mit.edu	37	1	109779138	109779138	+	Silent	SNP	C	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:109779138C>A	uc001dwu.2	+	8	1325	c.1225C>A	c.(1225-1227)Cga>Aga	p.R409R		NM_006513	NP_006504	P49591	SYSC_HUMAN	Homo sapiens seryl-tRNA synthetase (SARS), transcript variant 1, mRNA.	409					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|RNA binding|protein binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	GCTTCGAATCCGATATGGGCA	0.557000														228			7		0.000274275	0.00129471	0.000274275	1	0
MRGPRX3	117195	broad.mit.edu	37	11	18159526	18159526	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:18159526C>T	uc021qek.1	+	0	777	c.777C>T	c.(775-777)ttC>ttT	p.F259F	MRGPRX3_uc001mnu.3_Silent_p.F259F	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA.	259						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TTTCCATTTTCCTGTCCGCTC	0.493000														42			15		0	0	0.00244969	0	0
MAN2A1	4124	broad.mit.edu	37	5	109178139	109178139	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr5:109178139T>C	uc003kou.1	+	16	3640	c.2677T>C	c.(2677-2679)Tat>Cat	p.Y893H		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	893					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AAATAGATTTTATACTGACCT	0.308000														20			10		0	0	0.000673444	0	0
GABRA5	2558	broad.mit.edu	37	15	27185163	27185163	+	Silent	SNP	G	A	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr15:27185163G>A	uc001zbd.2	+	8	1348	c.816G>A	c.(814-816)gtG>gtA	p.V272V	GABRB3_uc001zbb.3_5'Flank|GABRA5_uc021sgi.1_Silent_p.V272V	NM_000810	NP_001158509	P31644	GBRA5_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	272					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TAATGACCGTGATCTTATCAC	0.493000														14			11		0	0	0.000673444	0	0
ITGAX	3687	broad.mit.edu	37	16	31374270	31374270	+	Silent	SNP	C	T	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr16:31374270C>T	uc002ebt.3	+	12	1441	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	ITGAX_uc002ebu.1_Silent_p.F458F|ITGAX_uc010vfk.1_Silent_p.F108F	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	458					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GCTCCTACTTCGGGGCCTCCC	0.677000														52			18		0	0	0.00121646	0	0
COL27A1	85301	broad.mit.edu	37	9	117052502	117052502	+	Splice_Site	DEL	A	-	-			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:117052502delA	uc011lxl.2	+	47	4261	c.4261_splice	c.e47-2	p.G1421_splice	COL27A1_uc004bii.3_Splice_Site	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1421	Collagen-like 13.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGTACCCCCCAGGGCCTGCAG	0.687													---	4	---	---	2	---					
POLR3E	55718	broad.mit.edu	37	16	22335828	22335835	+	Frame_Shift_Del	DEL	GCGCCGAG	-	-	rs141897679		TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr16:22335828_22335835delGCGCCGAG	uc002dkk.3	+	15	1289_1296	c.1133_1140delGCGCCGAG	c.(1132-1140)tgcgccgagfs	p.C378fs	POLR3E_uc002dkj.1_Frame_Shift_Del_p.C378fs|POLR3E_uc002dkm.3_Frame_Shift_Del_p.C342fs|POLR3E_uc010vbr.2_Frame_Shift_Del_p.C378fs|POLR3E_uc002dkl.3_Frame_Shift_Del_p.C378fs|POLR3E_uc010vbs.2_Frame_Shift_Del_p.C342fs|POLR3E_uc010vbt.2_Frame_Shift_Del_p.C322fs	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide E (80kD) (POLR3E), mRNA.	378					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CTCCAGCTCTGCGCCGAGGATGTGAAGG	0.606													---	69	---	---	15	---					
B9D1	27077	broad.mit.edu	37	17	19265901	19265901	+	Frame_Shift_Del	DEL	G	-	-			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr17:19265901delG	uc010vys.2	-	0	146	c.134delC	c.(133-135)ccgfs	p.P45fs	B9D1_uc010cqm.1_Intron|B9D1_uc002gvk.4_5'UTR|B9D1_uc010vyr.2_Intron|B9D1_uc010cqn.2_Frame_Shift_Del_p.P45fs	NM_001243473	NP_001230402	Q9UPM9	B9D1_HUMAN	Homo sapiens B9 protein domain 1 (B9D1), transcript variant 1, mRNA.	0	B9.				cilium assembly	centrosome|microtubule basal body	protein binding			large_intestine(3)|urinary_tract(1)	4	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TGGGGGTGCCGGGGGGACCCA	0.677													---	4	---	---	2	---					
ATF5	22809	broad.mit.edu	37	19	50434266	50434266	+	Frame_Shift_Del	DEL	G	-	-			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr19:50434266delG	uc010enq.2	+	2	741	c.159delG	c.(157-159)gtgfs	p.V53fs	IL4I1_uc021uxy.1_5'Flank|IL4I1_uc002pqu.2_5'Flank|IL4I1_uc010eno.2_5'Flank|IL4I1_uc002pqv.2_5'Flank|NUP62_uc002prb.3_5'Flank|NUP62_uc002pqx.3_5'Flank|NUP62_uc002pqy.3_5'Flank|NUP62_uc002pra.3_5'Flank|NUP62_uc002pqz.3_5'Flank|NUP62_uc002prc.3_5'Flank|ATF5_uc002prd.3_Frame_Shift_Del_p.V53fs|ATF5_uc021uyb.1_5'Flank	NM_012068	NP_036200	Q9Y2D1	ATF5_HUMAN	Homo sapiens activating transcription factor 5 (ATF5), transcript variant 1, mRNA.	53					regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GGCTTCCAGTGGGGGGAGAGC	0.647													---	4	---	---	2	---