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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
GMPPA	29926	broad.mit.edu	37	2	220370460	220370460	+	Missense_Mutation	SNP	G	G	A	rs151043830		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:220370460G>A	uc002vlv.3	+	9	1252	c.877G>A	c.(877-879)Gcc>Acc	p.A293T	GMPPA_uc002vlr.3_Missense_Mutation_p.A293T	NM_205847	NP_995319	Q96IJ6	GMPPA_HUMAN	Homo sapiens GDP-mannose pyrophosphorylase A (GMPPA), transcript variant 2, mRNA.	293					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CCACCCGACCGCCAAGGTGGC	0.607000													18	27					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21245884	21245884	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:21245884C>T	uc002red.3	-	17	2763	c.2635G>A	c.(2635-2637)Gtg>Atg	p.V879M		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	879					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCCACAGACACGGAGGGTTTT	0.478000													25	43					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1457506	1457506	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:1457506C>T	uc002qwr.3	+	5	609	c.523C>T	c.(523-525)Cga>Tga	p.R175*	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Nonsense_Mutation_p.R175*|TPO_uc002qwx.3_Nonsense_Mutation_p.R175*|TPO_uc002qwu.3_Nonsense_Mutation_p.R175*|TPO_uc010yio.2_Nonsense_Mutation_p.R175*|TPO_uc010yip.2_Nonsense_Mutation_p.R175*	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	175					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCCCTGGCACGATGGCTCCC	0.602000													31	40					0	0	1	0	0
ACSF3	197322	broad.mit.edu	37	16	89167646	89167646	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr16:89167646C>T	uc010cig.2	+	1	765	c.557C>T	c.(556-558)cCg>cTg	p.P186L	ACSF3_uc010cih.2_Intron|ACSF3_uc002fmp.3_Missense_Mutation_p.P186L|ACSF3_uc021tmq.1_Missense_Mutation_p.P186L|ACSF3_uc010cii.2_Non-coding_Transcript	NM_001127214	NP_777577	Q4G176	ACSF3_HUMAN	Homo sapiens acyl-CoA synthetase family member 3 (ACSF3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	186					fatty acid metabolic process	mitochondrion	ATP binding|acid-thiol ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GCAGAGGTCCCGGTCCCAGAG	0.642000													9	7					0	0	1	0	0
ZNF655	79027	broad.mit.edu	37	7	99171161	99171161	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr7:99171161C>T	uc010lga.3	+	3	1928	c.1535C>T	c.(1534-1536)gCa>gTa	p.A512V	ZNF655_uc003urh.3_Missense_Mutation_p.A477V|ZNF655_uc010lgc.3_Missense_Mutation_p.A512V|ZNF655_uc003urj.3_Missense_Mutation_p.A477V|ZNF655_uc003urk.3_Missense_Mutation_p.A314V|ZNF655_uc010lgd.3_Missense_Mutation_p.A314V	NM_001083956	NP_001078837	Q8N720	ZN655_HUMAN	Homo sapiens zinc finger protein 655 (ZNF655), transcript variant 7, mRNA.	477					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					AGTCAGAGAGCACATCTAGTT	0.393000													34	50					0	0	1	0	0
PLEKHA2	59339	broad.mit.edu	37	8	38775463	38775463	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr8:38775463C>T	uc003xmi.4	+	1	250	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W	PLEKHA2_uc011lce.2_Intron	NM_021623	NP_067636	Q9HB19	PKHA2_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2 (PLEKHA2), mRNA.	6					positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			TTATGTGGATCGGCAGAACCG	0.562000													24	25					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93065414	93065414	+	Silent	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr7:93065414C>T	uc003umv.2	-	13	1401	c.1101G>A	c.(1099-1101)gcG>gcA	p.A367A	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Silent_p.A333A|CALCR_uc003umw.2_Silent_p.A333A	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	349					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TGTGGGATTCCGCCTCATGGG	0.478000													12	23					0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171509417	171509417	+	Silent	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr5:171509417G>A	uc003mbo.1	-	11	2202	c.1902C>T	c.(1900-1902)cgC>cgT	p.R634R		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	634							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCTCCCGGCGGCGCACGGCAT	0.552000													50	104					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100266099	100266099	+	Silent	SNP	A	A	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:100266099A>T	uc002taf.3	-	11	1392	c.1248T>A	c.(1246-1248)gcT>gcA	p.A416A	AFF3_uc002tag.3_Silent_p.A391A|AFF3_uc010fiq.1_Silent_p.A391A|AFF3_uc010yvr.1_Silent_p.A544A|AFF3_uc002tah.1_Silent_p.A416A	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	391	Poly-Ser.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R415C(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGTCAGAGAGAGCGCGGAGAG	0.368000													19	59					0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157551320	157551320	+	Splice_Site	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:157551320C>T	uc001fqw.3	-	7	1385	c.1249_splice	c.e7+1	p.G417_splice	FCRL4_uc010phy.2_Splice_Site	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	417						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AGAGCACAAACCTGACTTCCT	0.597000													24	29					0	0	1	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967368	142967368	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:142967368G>C	uc004fca.3	+	0	196	c.166G>C	c.(166-168)Gaa>Caa	p.E56Q		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA.	56							acid-amino acid ligase activity	p.R55H(1)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTAAACGTGAACTATTACT	0.408000													49	79					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28896990	28896990	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr13:28896990C>T	uc001usb.3	-	20	3175	c.2890G>A	c.(2890-2892)Gaa>Aaa	p.E964K	FLT1_uc010aap.2_5'Flank|FLT1_uc010aaq.2_Missense_Mutation_p.E89K|FLT1_uc001usa.3_Missense_Mutation_p.E182K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	964	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GCAAAGCTTTCGCTGCTGGTG	0.478000													40	75					0	0	1	0	0
PHOSPHO2	493911	broad.mit.edu	37	2	170557640	170557640	+	Silent	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:170557640G>A	uc021vsh.1	+	3	477	c.159G>A	c.(157-159)aaG>aaA	p.K53K	PHOSPHO2_uc021vsi.1_Silent_p.K53K|PHOSPHO2_uc021vsj.1_Silent_p.K53K|PHOSPHO2_uc021vsg.1_Silent_p.K53K|PHOSPHO2_uc002ufg.3_Silent_p.K53K|KLHL23_uc002ufh.2_Intron|PHOSPHO2_uc021vsk.1_Silent_p.K53K	NM_001199288	NP_001186217	Q8TCD6	PHOP2_HUMAN	Homo sapiens phosphatase, orphan 2 (PHOSPHO2), transcript variant 5, mRNA.	53							metal ion binding|pyridoxal phosphatase activity			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						GAGTCTTTAAGTATTTGGGAG	0.383000													30	32					0	0	1	0	0
HERPUD2	64224	broad.mit.edu	37	7	35674870	35674870	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr7:35674870G>T	uc003tes.4	-	6	1475	c.816C>A	c.(814-816)ttC>ttA	p.F272L	HERPUD2_uc003tet.3_Missense_Mutation_p.F272L	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN	Homo sapiens HERPUD family member 2 (HERPUD2), mRNA.	272					response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						AGTCTCGATTGAAGTCTTCTT	0.438000													37	46					0	0	1	0	0
REG3G	130120	broad.mit.edu	37	2	79254978	79254978	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:79254978G>A	uc002snw.3	+	4	464	c.379G>A	c.(379-381)Gtg>Atg	p.V127M	REG3G_uc002snx.3_Missense_Mutation_p.V127M|REG3G_uc010ffu.3_Missense_Mutation_p.V81M	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	Homo sapiens regenerating islet-derived 3 gamma (REG3G), transcript variant 2, mRNA.	127	C-type lectin.				acute-phase response	extracellular region	sugar binding	p.D126D(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TAGCACTGATGTGATGAATTA	0.498000													47	73					0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17078626	17078626	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr17:17078626C>T	uc002gqy.2	+	4	3702	c.3296C>T	c.(3295-3297)gCt>gTt	p.A1099V	MPRIP_uc002gqu.2_Missense_Mutation_p.A870V|MPRIP_uc002gqv.2_Missense_Mutation_p.A870V|MPRIP_uc002gqw.2_Missense_Mutation_p.A625V|MPRIP_uc002gqx.2_Missense_Mutation_p.A1099V|MPRIP_uc010cpl.2_Intron|MPRIP_uc010cpm.2_Intron			Q6WCQ1	MPRIP_HUMAN	Homo sapiens myosin phosphatase Rho interacting protein (MPRIP), transcript variant 1, mRNA.	870						cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AACCGCCTGGCTGCAGAGATC	0.622000													7	46					0	0	1	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86542401	86542401	+	Silent	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr7:86542401C>T	uc011kha.2	-	13	2036	c.1851G>A	c.(1849-1851)tcG>tcA	p.S617S	KIAA1324L_uc003uie.3_Silent_p.S450S|KIAA1324L_uc011kgz.2_Silent_p.S503S|KIAA1324L_uc003uif.2_Silent_p.S369S	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	617						integral to membrane		p.S377S(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					AGGGGACACACGATGAACCCG	0.522000													14	25					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10467031	10467031	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr8:10467031G>A	uc003wtc.3	-	3	4806	c.4577C>T	c.(4576-4578)aCg>aTg	p.T1526M		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1526					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGCCTTCTCCGTCTTCTTCAG	0.662000													29	42					0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41743930	41743930	+	Missense_Mutation	SNP	G	G	A	rs141302305		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr19:41743930G>A	uc010ehj.3	+	6	1055	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	AXL_uc010ehi.1_Missense_Mutation_p.V289M|AXL_uc010ehk.3_Missense_Mutation_p.V289M	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	289	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.V289M(4)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GCAAGCATCCGTGCCCCCCCA	0.647000													43	67					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42794634	42794634	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr19:42794634C>T	uc002otf.1	+	9	1754	c.1714C>T	c.(1714-1716)Cgg>Tgg	p.R572W		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	572	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R572Q(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGGCCCCCTACGGCCCCCACC	0.672000			"""Mis, F, S"""		oligodendroglioma								35	50					0	0	1	0	0
SLC16A2	6567	broad.mit.edu	37	X	73744511	73744511	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:73744511C>A	uc004ebt.2	+	2	1281	c.1115C>A	c.(1114-1116)aCc>aAc	p.T372N	SLC16A2_uc010nlr.1_Missense_Mutation_p.T47N	NM_006517	NP_006508	P36021	MOT8_HUMAN	Homo sapiens solute carrier family 16, member 2 (monocarboxylic acid transporter 8) (SLC16A2), mRNA.	298						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	p.T372P(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	GGTGTCCGCACCCTGCACCAG	0.572000													39	47					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153247366	153247366	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr4:153247366C>T	uc003ims.3	-	9	1598	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	FBXW7_uc011cii.2_Missense_Mutation_p.R479Q|FBXW7_uc003imt.3_Missense_Mutation_p.R479Q|FBXW7_uc011cih.2_Missense_Mutation_p.R303Q|FBXW7_uc003imq.3_Missense_Mutation_p.R399Q|FBXW7_uc003imr.3_Missense_Mutation_p.R361Q	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	479					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.R479Q(62)|p.R479L(11)|p.R479G(3)|p.R399Q(3)|p.R479P(3)|p.R479*(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R479R(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								21	28					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371620	240371620	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:240371620G>A	uc010pye.2	+	5	3745	c.3520G>A	c.(3520-3522)Gga>Aga	p.G1174R	FMN2_uc010pyd.2_Missense_Mutation_p.G1170R	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1170	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCTCTACCCGGAGCGGGCAT	0.692000													6	15					0	0	1	0	0
GSTA3	2940	broad.mit.edu	37	6	52762720	52762720	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr6:52762720C>A	uc003pbb.3	-	5	528	c.449G>T	c.(448-450)gGc>gTc	p.G150V	GSTA3_uc010jzq.3_Missense_Mutation_p.G94V	NM_000847	NP_000838	Q16772	GSTA3_HUMAN	Homo sapiens glutathione S-transferase alpha 3 (GSTA3), mRNA.	150	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	CAGCTTGTTGCCAACAAGGTA	0.517000													58	66					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158618428	158618428	+	Silent	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:158618428C>T	uc001fst.1	-	25	3784	c.3585G>A	c.(3583-3585)acG>acA	p.T1195T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1195					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.D1194N(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTGCTCCTTCGTGTCATCTG	0.498000													37	39					0	0	1	0	0
CTBP2	1488	broad.mit.edu	37	10	126678107	126678107	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr10:126678107C>G	uc009yak.3	-	10	1605	c.1318G>C	c.(1318-1320)Gag>Cag	p.E440Q	CTBP2_uc009yal.3_Missense_Mutation_p.E440Q|CTBP2_uc001lif.4_Missense_Mutation_p.E440Q|CTBP2_uc001lih.4_Missense_Mutation_p.E440Q|CTBP2_uc001lid.4_Missense_Mutation_p.E508Q|CTBP2_uc001lie.4_Missense_Mutation_p.E980Q	NM_001329	NP_001320	P56545	CTBP2_HUMAN	Homo sapiens C-terminal binding protein 2 (CTBP2), transcript variant 1, mRNA.	440					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		TTGGGGTGCTCTCGATTGTCC	0.512000													4	91					0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46713390	46713390	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr3:46713390C>T	uc003cqa.2	-	23	2861	c.2668G>A	c.(2668-2670)Gtg>Atg	p.V890M	ALS2CL_uc003cpx.2_Missense_Mutation_p.V237M|ALS2CL_uc003cpy.2_Non-coding_Transcript|ALS2CL_uc003cpz.2_Missense_Mutation_p.V405M|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Missense_Mutation_p.V890M	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	890	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CGCGACACCACGTAGATGAGA	0.627000													15	24					0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100187923	100187923	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr7:100187923C>T	uc011kjz.1	+	2	447	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Missense_Mutation_p.R89C|FBXO24_uc003uvm.1_Missense_Mutation_p.R89C|FBXO24_uc003uvn.1_Intron|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Missense_Mutation_p.R77C	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	89						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACTCAGTCCGCGCCTCCAAGA	0.602000													22	22					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50728775	50728775	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr22:50728775G>A	uc003bkv.4	-	2	332	c.239C>T	c.(238-240)cCg>cTg	p.P80L		NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	80	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	p.P123L(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTCGATGGGCGGCGTGCACTT	0.652000													20	6					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38138875	38138875	+	Silent	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr4:38138875G>A	uc003gtb.3	+	19	3784	c.3426G>A	c.(3424-3426)acG>acA	p.T1142T	TBC1D1_uc011byd.2_Silent_p.T1133T|TBC1D1_uc010ifd.3_Silent_p.T929T|TBC1D1_uc021xnh.1_Silent_p.T239T|TBC1D1_uc021xni.1_Silent_p.T239T|TBC1D1_uc003gtd.3_Silent_p.T154T	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	1142						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TGCTGCAGACGGTGGAGGAGC	0.642000													29	27					0	0	1	0	0
OCEL1	79629	broad.mit.edu	37	19	17338751	17338751	+	Silent	SNP	T	T	C			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr19:17338751T>C	uc002nfp.3	+	3	557	c.555T>C	c.(553-555)tgT>tgC	p.C185C		NM_024578	NP_078854	Q9H607	OCEL1_HUMAN	Homo sapiens occludin/ELL domain containing 1 (OCEL1), mRNA.	185										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						AGGTGGGGTGTGCACAGGCAA	0.637000													25	46					0	0	1	0	0
TMEM62	80021	broad.mit.edu	37	15	43441229	43441229	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr15:43441229C>T	uc001zqr.3	+	6	1025	c.746C>T	c.(745-747)tCg>tTg	p.S249L	TMEM62_uc010bda.3_Missense_Mutation_p.S119L	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN	Homo sapiens transmembrane protein 62 (TMEM62), mRNA.	249						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		TTGGTTAGTTCGGCTATAGCT	0.408000													27	30					0	0	1	0	0
RRAGB	10325	broad.mit.edu	37	X	55757849	55757849	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:55757849C>T	uc004dup.3	+	5	1081	c.430C>T	c.(430-432)Cga>Tga	p.R144*	RRAGB_uc004duq.3_Nonsense_Mutation_p.R116*	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN	Homo sapiens Ras-related GTP binding B (RRAGB), transcript variant RAGBl, mRNA.	144					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding			breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						CAACATCTTCCGAAATGTGGA	0.403000													7	13					0	0	1	0	0
CD226	10666	broad.mit.edu	37	18	67563152	67563152	+	Missense_Mutation	SNP	C	C	T	rs79158855	byFrequency	TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr18:67563152C>T	uc010dqo.3	-	2	959	c.512G>A	c.(511-513)cGt>cAt	p.R171H	CD226_uc002lkm.4_Missense_Mutation_p.R171H|CD226_uc021uli.1_Missense_Mutation_p.R16H	NM_006566	NP_006557	Q15762	CD226_HUMAN	Homo sapiens CD226 molecule (CD226), mRNA.	171	Ig-like C2-type 2.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				GTCGATCTGACGGGGCTGGAT	0.512000													26	28					0	0	1	0	0
PRL	5617	broad.mit.edu	37	6	22290511	22290511	+	Silent	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr6:22290511C>T	uc003ndp.3	-	3	903	c.384G>A	c.(382-384)acG>acA	p.T128T	PRL_uc003ndo.3_Silent_p.T129T|PRL_uc003ndq.3_Silent_p.T128T	NM_000948	NP_001157030	P01236	PRL_HUMAN	Homo sapiens prolactin (PRL), transcript variant 1, mRNA.	128					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					CACGTACTTCCGTGACCAGAT	0.463000													29	40					0	0	1	0	0
TAB3	257397	broad.mit.edu	37	X	30872877	30872877	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:30872877G>A	uc004dcj.3	-	5	1568	c.905C>T	c.(904-906)tCa>tTa	p.S302L	TAB3_uc004dck.3_Missense_Mutation_p.S302L|TAB3_uc010ngl.3_Missense_Mutation_p.S302L	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 3 (TAB3), mRNA.	302	Pro-rich.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GCTGAAGGGTGAAGGACATTG	0.488000													21	18					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56569658	56569658	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr19:56569658C>T	uc002qmj.3	+	13	3352	c.3352C>T	c.(3352-3354)Ctt>Ttt	p.L1118F	NLRP5_uc002qmi.3_Missense_Mutation_p.L1099F	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	1118						mitochondrion|nucleolus	ATP binding	p.L1118I(1)		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)		CTCCTTGGCCCTTTCCTGCAA	0.517000													23	32					0	0	1	0	0
SPIRE2	84501	broad.mit.edu	37	16	89922602	89922602	+	Silent	SNP	C	C	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr16:89922602C>A	uc002foz.1	+	6	1112	c.1060C>A	c.(1060-1062)Cgg>Agg	p.R354R	SPIRE2_uc010civ.1_Silent_p.R269R|SPIRE2_uc010ciw.1_Silent_p.R354R|SPIRE2_uc002fpa.1_Silent_p.R306R|SPIRE2_uc010cix.1_Silent_p.R221R	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	Homo sapiens spire homolog 2 (Drosophila) (SPIRE2), mRNA.	354	WH2 3.				transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CAAGCAGGAGCGGAGGCTGCG	0.682000													7	11					0	0	1	0	0
PLK3	1263	broad.mit.edu	37	1	45268952	45268952	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:45268952G>A	uc001cmn.3	+	7	1061	c.961G>A	c.(961-963)Gat>Aat	p.D321N		NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	Homo sapiens polo-like kinase 3 (PLK3), mRNA.	321						membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CTACACCCCCGATCGACTCCC	0.577000													29	45					0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86894919	86894919	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr9:86894919A>G	uc010mpz.3	-	15	1945	c.1799T>C	c.(1798-1800)gTg>gCg	p.V600A	SLC28A3_uc011lsy.2_Missense_Mutation_p.V531A|SLC28A3_uc004anu.2_Missense_Mutation_p.V600A	NM_001199633	NP_001186562	Q9HAS3	S28A3_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA.	600					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GAAGCAGGCCACGGTCCCCGC	0.587000													11	23					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr3:178952085A>G	uc003fjk.3	+	20	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(3170)|p.H1047L(409)|p.H1047Y(46)|p.A1046T(6)|p.H1047Q(3)|p.A1046E(2)|p.H1047P(2)|p.A1046V(2)|p.A1046A(1)|p.H1047T(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			44	9					0	0	1	0	0
SUV39H1	6839	broad.mit.edu	37	X	48558921	48558921	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:48558921A>C	uc004dkn.3	+	2	650	c.605A>C	c.(604-606)aAg>aCg	p.K202T	SUV39H1_uc011mmf.2_Missense_Mutation_p.K213T|SUV39H1_uc011mmg.2_Intron	NM_003173	NP_003164	O43463	SUV91_HUMAN	Homo sapiens suppressor of variegation 3-9 homolog 1 (Drosophila) (SUV39H1), mRNA.	202	Pre-SET.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TCACTGCACAAGTTTGCCTAC	0.652000													22	46					0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127724804	127724804	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr10:127724804G>A	uc001ljk.2	-	20	2862	c.2449C>T	c.(2449-2451)Cga>Tga	p.R817*	ADAM12_uc010qul.1_Nonsense_Mutation_p.R768*	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	817					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding	p.R817*(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GGAAGCACTCGCTGAGTTGAC	0.597000													31	44					0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95531317	95531317	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr12:95531317G>A	uc001tdp.4	-	6	3199	c.2975C>T	c.(2974-2976)gCt>gTt	p.A992V	FGD6_uc009zsx.3_Missense_Mutation_p.A125V|FGD6_uc001tdq.1_Missense_Mutation_p.A28V	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	992	DH.			A -> T (in Ref. 2; AAH13319).	actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.A992_V993insA(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCTAACAACAGCAGCAAAACC	0.328000													21	33					0	0	1	0	0
OR52I2	143502	broad.mit.edu	37	11	4608812	4608812	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr11:4608812G>A	uc010qyh.2	+	0	792	c.770G>A	c.(769-771)gGt>gAt	p.G257D		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAGTATTTGGTCTCTCCTCA	0.473000													42	69					0	0	1	0	0
C2orf54	79919	broad.mit.edu	37	2	241829466	241829466	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:241829466G>A	uc002wae.4	-	2	1009	c.850C>T	c.(850-852)Cgt>Tgt	p.R284C	C2orf54_uc002wac.3_Missense_Mutation_p.R116C|C2orf54_uc002wad.3_Missense_Mutation_p.R135C	NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN	Homo sapiens chromosome 2 open reading frame 54 (C2orf54), transcript variant 1, mRNA.	284										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CCACTGTCACGCCAGCTCTCG	0.662000													20	37					0	0	1	0	0
C10orf81	79949	broad.mit.edu	37	10	115540379	115540379	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr10:115540379G>A	uc009xyc.2	+	12	1631	c.940G>A	c.(940-942)Ggc>Agc	p.G314S	C10orf81_uc001lar.2_3'UTR|C10orf81_uc001las.2_Missense_Mutation_p.G314S|C10orf81_uc001lau.2_Missense_Mutation_p.G230S|MIR4483_uc021pys.1_5'Flank|C10orf81_uc001lav.3_5'Flank	NM_001193434	NP_001180364	Q5SXH7	CJ081_HUMAN	Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 2, mRNA.	410										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)	15		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		GCTTACCATCGGCAGGATCCC	0.403000													20	33					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149497300	149497300	+	Silent	SNP	G	G	A	rs2229559		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr5:149497300G>A	uc003lro.3	-	21	3487	c.3018C>T	c.(3016-3018)tcC>tcT	p.S1006S	PDGFRB_uc010jhd.3_Silent_p.S845S	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	1006					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TATAGAGGACGGAGCTGGTGT	0.617000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								24	48					0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52716212	52716212	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr19:52716212C>T	uc002pyp.3	+	5	951	c.656C>T	c.(655-657)tCg>tTg	p.S219L	PPP2R1A_uc010ydk.2_Missense_Mutation_p.S164L|PPP2R1A_uc010epm.1_Missense_Mutation_p.S259L|PPP2R1A_uc002pyq.3_Missense_Mutation_p.S40L	NM_014225	NP_055040	P30153	2AAA_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.	219	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CCCTAGGACTCGGTGCGGCTG	0.647000			Mis		clear cell ovarian carcinoma								22	22					0	0	1	0	0
CDX2	1045	broad.mit.edu	37	13	28537414	28537414	+	Silent	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr13:28537414C>T	uc001urv.3	-	2	954	c.780G>A	c.(778-780)ccG>ccA	p.P260P		NM_001265	NP_001256	Q99626	CDX2_HUMAN	Homo sapiens caudal type homeobox 2 (CDX2), mRNA.	260	Poly-Pro.				organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		GCGGCGGAGGCGGCTGTGGTG	0.567000			T	ETV6	AML								25	23					0	0	1	0	0
SMOC1	64093	broad.mit.edu	37	14	70346406	70346406	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr14:70346406C>A	uc001xlt.2	+	0	293	c.11C>A	c.(10-12)gCg>gAg	p.A4E	SMOC1_uc001xls.2_Missense_Mutation_p.A4E	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	4					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		ATGCTGCCCGCGCGCTGCGCC	0.751000													6	3					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212339	26212339	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:26212339G>A	uc022buc.1	+	0	376	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	MAGEB6_uc004dbr.3_Missense_Mutation_p.V126M	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	126	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AAAATATGATGTGGCTGCCAA	0.557000													48	71					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140176114	140176114	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr5:140176114C>T	uc003lhd.2	+	0	1671	c.1565C>T	c.(1564-1566)cCg>cTg	p.P522L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.P522L|PCDHAC2_uc011czy.2_Missense_Mutation_p.P522L	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	536	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCTGCAGCCGCTGGACCAC	0.687000													149	114					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766792	77766792	+	Silent	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr8:77766792G>A	uc003yau.2	+	9	8022	c.7635G>A	c.(7633-7635)ccG>ccA	p.P2545P	ZFHX4_uc003yaw.1_Silent_p.P2500P	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2500						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P2544S(1)|p.P2529P(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCAACAATCCGCTGATGACTG	0.537000										HNSCC(33;0.089)			46	84					0	0	1	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58009072	58009072	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr12:58009072C>T	uc001spb.3	+	10	1473	c.1013C>T	c.(1012-1014)aCg>aTg	p.T338M	ARHGEF25_uc009zpy.3_Missense_Mutation_p.T377M|ARHGEF25_uc001soz.1_Intron|ARHGEF25_uc001spa.3_Missense_Mutation_p.T232M|BC073932_uc001spc.3_Non-coding_Transcript	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 25 (ARHGEF25), transcript variant 1, mRNA.	338					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						GATATGATGACGCTGGGGAGA	0.562000													16	33					0	0	1	0	0
BC011998	0	broad.mit.edu	37	5	164028103	164028103	+	RNA	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr5:164028103C>T	uc003lzn.3	+	2		c.281C>T								Homo sapiens, clone IMAGE:4479080, mRNA, partial cds.																		TCGCCCAGGTCGTGGCCGATC	0.597000													4	9					0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101909605	101909605	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:101909605A>C	uc010nod.3	+	2	1406	c.764A>C	c.(763-765)gAt>gCt	p.D255A	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Missense_Mutation_p.D255A|GPRASP1_uc004ejj.4_Missense_Mutation_p.D255A|GPRASP1_uc004eji.4_Missense_Mutation_p.D255A|GPRASP1_uc022cbd.1_Missense_Mutation_p.D255A	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	255						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGTTCTGAGGATGAGTCTGTT	0.478000													6	175					0	0	1	0	0
SLC35A2	7355	broad.mit.edu	37	X	48762195	48762195	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:48762195C>T	uc011mmm.1	-	4	1397	c.1075G>A	c.(1075-1077)Gtc>Atc	p.V359I	SLC35A2_uc004dlo.1_Missense_Mutation_p.V331I|SLC35A2_uc011mml.1_Missense_Mutation_p.V344I|SLC35A2_uc004dlp.1_Missense_Mutation_p.V331I|SLC35A2_uc011mmn.1_Missense_Mutation_p.V270I|SLC35A2_uc004dlq.3_Intron|SLC35A2_uc004dlr.1_Silent_p.S184S	NM_001042498	NP_001035963	P78381	S35A2_HUMAN	Homo sapiens solute carrier family 35 (UDP-galactose transporter), member A2 (SLC35A2), transcript variant 3, mRNA.	331					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	UDP-galactose transmembrane transporter activity|sugar:hydrogen symporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						GCACCAATGACGAGTCCAGCG	0.612000													10	20					0	0	1	0	0
STK16	8576	broad.mit.edu	37	2	220112473	220112473	+	Missense_Mutation	SNP	T	T	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:220112473T>A	uc002vko.2	+	5	808	c.651T>A	c.(649-651)gaT>gaA	p.D217E	GLB1L_uc002vkm.3_5'Flank|GLB1L_uc002vkn.3_5'Flank|STK16_uc002vks.2_Missense_Mutation_p.D99E|STK16_uc010zky.2_3'UTR|STK16_uc010fwf.3_Missense_Mutation_p.D217E|STK16_uc002vkp.2_Missense_Mutation_p.D217E	NM_001008910	NP_001008910	O75716	STK16_HUMAN	Homo sapiens serine/threonine kinase 16 (STK16), transcript variant 1, mRNA.	217	Protein kinase.				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCGGACTGATGTCTGGGTGA	0.587000													5	4					0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40481653	40481653	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr17:40481653A>C	uc002hzl.1	-	12	1392	c.1152T>G	c.(1150-1152)ttT>ttG	p.F384L	STAT3_uc002hzk.1_Missense_Mutation_p.F384L|STAT3_uc002hzm.1_Missense_Mutation_p.F384L|STAT3_uc010wgh.1_Missense_Mutation_p.F286L|STAT3_uc002hzn.1_Missense_Mutation_p.F384L	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	384			F -> L (in AD-HIES).|F -> S (in AD-HIES).		JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CCAGAATGTTAAATTTCCGGG	0.458000									Hyperimmunoglobulin E Recurrent Infection Syndrome				36	39					0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99441462	99441462	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr8:99441462C>T	uc003yin.3	+	1	1605	c.1255C>T	c.(1255-1257)Cgc>Tgc	p.R419C	KCNS2_uc022azb.1_Missense_Mutation_p.R419C	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	419						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R419C(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CTTTTACCGGCGCCAAAAGCA	0.512000													47	101					0	0	1	0	0
HIST1H2AL	8332	broad.mit.edu	37	6	27833147	27833147	+	Silent	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr6:27833147C>T	uc003njw.3	+	0	41	c.15C>T	c.(13-15)ggC>ggT	p.G5G		NM_003511	NP_066408	P0C0S8	H2A1_HUMAN	Homo sapiens histone cluster 1, H2al (HIST1H2AL), mRNA.	5					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						CGGGACGCGGCAAGCAGGGAG	0.587000													45	76					0	0	1	0	0
CD36	948	broad.mit.edu	37	7	80290415	80290415	+	Silent	SNP	C	C	T	rs146796766		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr7:80290415C>T	uc003uhc.3	+	7	1002	c.318C>T	c.(316-318)gaC>gaT	p.D106D	CD36_uc011kgv.2_Silent_p.D30D|CD36_uc003uhd.4_Silent_p.D106D|CD36_uc003uhe.4_Silent_p.D106D|CD36_uc003uhf.4_Silent_p.D106D|CD36_uc003uhg.4_Silent_p.D106D|CD36_uc003uhh.4_Silent_p.D106D|CD36_uc022agu.1_Silent_p.D106D|CD36_uc022agv.1_Silent_p.D106D	NM_001127444	NP_001120916	P16671	CD36_HUMAN	Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 5, mRNA.	106	Required for interaction with thrombospondins, THBS1 and THBS2.				cGMP-mediated signaling|cell adhesion|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TAACCCAGGACGCTGAGGACA	0.408000													18	43					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21256329	21256329	+	Silent	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:21256329G>A	uc002red.3	-	8	1094	c.966C>T	c.(964-966)gcC>gcT	p.A322A		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	322	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAACAGCTTCGGCCTGCTTTG	0.438000													39	52					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153581007	153581007	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:153581007C>T	uc004fkk.2	-	39	6665	c.6416G>A	c.(6415-6417)cGg>cAg	p.R2139Q	FLNA_uc011mzn.1_Missense_Mutation_p.R272Q|FLNA_uc010nuu.1_Missense_Mutation_p.R2131Q	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	2139					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCTTTCACCCGGCCCTCGCC	0.617000													25	37					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113254010	113254010	+	Silent	SNP	A	A	G			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr8:113254010A>G	uc003ynu.3	-	65	10566	c.10407T>C	c.(10405-10407)ggT>ggC	p.G3469G	CSMD3_uc003yns.3_Silent_p.G2671G|CSMD3_uc003ynt.3_Silent_p.G3429G|CSMD3_uc011lhx.2_Silent_p.G3300G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3469						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						ATATTTTAGAACCAGCTATGA	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			26	47					0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44474144	44474144	+	Silent	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:44474144G>A	uc001cll.3	-	4	882	c.690C>T	c.(688-690)gcC>gcT	p.A230A	SLC6A9_uc009vxe.2_Silent_p.A86A|SLC6A9_uc010okm.1_Silent_p.A157A|SLC6A9_uc001clm.3_Silent_p.A176A|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Silent_p.A161A|SLC6A9_uc010oko.2_Silent_p.A46A|SLC6A9_uc001cln.3_Silent_p.A157A|SLC6A9_uc010okp.1_Non-coding_Transcript	NM_201649	NP_964012	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	230						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.A230A(1)|p.A157A(1)		endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CCAGTACACCGGCGCAGTCAT	0.607000													34	58					0	0	1	0	0
CHST12	55501	broad.mit.edu	37	7	2473140	2473140	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr7:2473140G>A	uc003smc.3	+	1	1029	c.866G>A	c.(865-867)cGc>cAc	p.R289H	CHST12_uc003smd.3_Missense_Mutation_p.R289H|CHST12_uc021zyu.1_Missense_Mutation_p.R289H|CHST12_uc021zyv.1_Missense_Mutation_p.R289H	NM_001243794	NP_001230723	Q9NRB3	CHSTC_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 12 (CHST12), transcript variant 1, mRNA.	289					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GCCTCGGCGCGCGAGGCCTTC	0.652000													35	35					0	0	1	0	0
ITIH3	3699	broad.mit.edu	37	3	52833799	52833799	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr3:52833799G>A	uc003dfv.2	+	8	973	c.937G>A	c.(937-939)Gat>Aat	p.D313N	ITIH3_uc011bek.1_Missense_Mutation_p.D313N	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	313	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AATCCTGGAAGATATGCAAGA	0.537000													5	15					0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134179612	134179612	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr11:134179612G>A	uc009zdf.3	+	10	1414	c.1054G>A	c.(1054-1056)Ggg>Agg	p.G352R	GLB1L3_uc010scu.1_Missense_Mutation_p.G53R|GLB1L3_uc001qho.4_Non-coding_Transcript	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	352					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TTTCATGAACGGGGCCACATA	0.483000													3	12					0	0	1	0	0
KIRREL3	84623	broad.mit.edu	37	11	126306737	126306737	+	Silent	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr11:126306737G>A	uc001qea.3	-	11	1882	c.1521C>T	c.(1519-1521)tcC>tcT	p.S507S	KIRREL3_uc001qeb.3_Silent_p.S507S|KIRREL3_uc001qec.1_Silent_p.S507S|ST3GAL4_uc001qdx.1_Intron	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	Homo sapiens kin of IRRE like 3 (Drosophila) (KIRREL3), transcript variant 1, mRNA.	507	Ig-like C2-type 5.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	p.S466S(1)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TCTCAGTGTCGGAGCCGAAGC	0.607000													16	23					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43437926	43437926	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr18:43437926C>T	uc002lbm.3	-	41	7434	c.7334G>A	c.(7333-7335)cGa>cAa	p.R2445Q	EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_Missense_Mutation_p.R999Q|EPG5_uc002lbn.2_Missense_Mutation_p.R1320Q	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	2445					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GAGCAGAATTCGAATGACAGA	0.537000													21	34					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128836	83128836	+	Missense_Mutation	SNP	T	T	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:83128836T>A	uc004eei.1	+	3	1141	c.1120T>A	c.(1120-1122)Tca>Aca	p.S374T	CYLC1_uc004eeh.1_Missense_Mutation_p.S373T	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	374					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TGATACTGAATCAGGAGATGC	0.323000													15	14					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57206384	57206384	+	Silent	SNP	C	C	T	rs140363025		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:57206384C>T	uc001cym.4	-	12	2095	c.1689G>A	c.(1687-1689)tcG>tcA	p.S563S	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	563								p.S563L(2)|p.S563P(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						AGTTTTCTTTCGACTTGGTTT	0.363000													7	13					0	0	1	0	0
EPS8L1	54869	broad.mit.edu	37	19	55593930	55593930	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr19:55593930G>A	uc002qis.4	+	11	1278	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	EPS8L1_uc010ess.1_Missense_Mutation_p.E374K|EPS8L1_uc010est.1_Missense_Mutation_p.E392K|EPS8L1_uc010yfr.2_Missense_Mutation_p.E328K|EPS8L1_uc010esu.1_Non-coding_Transcript|EPS8L1_uc002qiu.3_Missense_Mutation_p.E265K|EPS8L1_uc002qiv.3_Missense_Mutation_p.E38K|EPS8L1_uc002qiw.3_Missense_Mutation_p.E139K	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.	392						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ACGTGAAAACGAGCTCTGGAC	0.697000													6	10					0	0	1	0	0
CCDC148	130940	broad.mit.edu	37	2	159215037	159215037	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:159215037T>C	uc002tzq.3	-	1	385	c.71A>G	c.(70-72)tAc>tGc	p.Y24C	CCDC148_uc002tzr.3_5'UTR|CCDC148_uc010foh.3_5'UTR|CCDC148_uc010fok.2_Intron|CCDC148_uc010foi.2_Intron|CCDC148_uc010foj.2_5'UTR|CCDC148_uc002tzs.2_Missense_Mutation_p.Y24C	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.	24										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TACTGGTTTGTACTTGATGTT	0.328000													10	14					0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58569315	58569315	+	Silent	SNP	G	G	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr20:58569315G>T	uc002ybe.3	+	10	1748	c.1437G>T	c.(1435-1437)ccG>ccT	p.P479P	CDH26_uc002ybf.1_Silent_p.P59P|CDH26_uc010zzy.2_Non-coding_Transcript|CDH26_uc002ybh.3_5'Flank|CDH26_uc002ybi.3_5'Flank	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	479	Cadherin 4.		P -> L (in dbSNP:rs6071067).		homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P479P(3)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GCTTCCCACCGCAGACTGCTA	0.517000													25	34					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100266101	100266101	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:100266101C>T	uc002taf.3	-	11	1390	c.1246G>A	c.(1246-1248)Gct>Act	p.A416T	AFF3_uc002tag.3_Missense_Mutation_p.A391T|AFF3_uc010fiq.1_Missense_Mutation_p.A391T|AFF3_uc010yvr.1_Missense_Mutation_p.A544T|AFF3_uc002tah.1_Missense_Mutation_p.A416T	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	391	Poly-Ser.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R415C(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCAGAGAGAGCGCGGAGAGCC	0.363000													18	60					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153039479	153039479	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:153039479C>T	uc010nuk.2	+	20	3785	c.3514C>T	c.(3514-3516)Cgc>Tgc	p.R1172C	PLXNB3_uc004fii.2_Missense_Mutation_p.R1149C|PLXNB3_uc011mzd.1_Missense_Mutation_p.R788C|PLXNB3_uc004fij.1_5'Flank|SRPK3_uc004fik.3_5'Flank	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	1149	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCCAACCCCCGCCTGGCACC	0.687000													15	34					0	0	1	0	0
CHM	1121	broad.mit.edu	37	X	85218875	85218875	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:85218875G>A	uc004eet.3	-	4	527	c.497C>T	c.(496-498)gCg>gTg	p.A166V	CHM_uc011mqz.2_Missense_Mutation_p.A18V	NM_000390	NP_000381	P24386	RAE1_HUMAN	Homo sapiens choroideremia (Rab escort protein 1) (CHM), transcript variant 1, mRNA.	166					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	p.A166V(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TACTTCTAGCGCATTCTCTGG	0.443000													30	49					0	0	1	0	0
RHBDL3	162494	broad.mit.edu	37	17	30611720	30611720	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr17:30611720C>T	uc010csx.1	+	2	192	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	RHBDL3_uc002hhe.1_Missense_Mutation_p.R60W|RHBDL3_uc010csw.1_Missense_Mutation_p.R52W|RHBDL3_uc010csy.1_Intron|RHBDL3_uc002hhf.1_Intron			P58872	RHBL3_HUMAN	Homo sapiens rhomboid, veinlet-like 3 (Drosophila) (RHBDL3), mRNA.	60	EF-hand 1.				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	p.F59F(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				AGGCAAGTTCCGGAGTCTTCT	0.592000													21	31					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89692980	89692980	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr10:89692980A>G	uc001kfb.3	+	4	1496	c.464A>G	c.(463-465)tAt>tGt	p.Y155C	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	155	Phosphatase tensin-type.		Y -> C (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4).		T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.Y155C(15)|p.?(5)|p.R55fs*1(5)|p.Y155H(3)|p.F154L(3)|p.Y27fs*1(2)|p.F154F(2)|p.Y27_N212>Y(2)|p.F154fs*5(2)|p.Y155N(1)|p.F154C(1)|p.F154S(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTAGATTTCTATGGGGAAGTA	0.373000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			42	3					0	0	1	0	0
NSF	4905	broad.mit.edu	37	17	44782178	44782178	+	Silent	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr17:44782178G>A	uc002iku.3	+	12	1535	c.1428G>A	c.(1426-1428)acG>acA	p.T476T	NSF_uc010wke.2_Silent_p.T382T|NSF_uc010wkf.2_Silent_p.T382T|NSF_uc010wkg.2_Silent_p.T471T	NM_006178	NP_006169	P46459	NSF_HUMAN	Homo sapiens N-ethylmaleimide-sensitive factor (NSF), transcript variant 1, mRNA.	476			T -> M (in dbSNP:rs155733).		protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		TGCAAGTGACGAGAGGAGACT	0.383000													21	34					0	0	1	0	0
BFAR	51283	broad.mit.edu	37	16	14743799	14743799	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr16:14743799G>A	uc002dco.3	+	3	888	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	BFAR_uc010uzh.2_Missense_Mutation_p.E75K	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN	Homo sapiens bifunctional apoptosis regulator (BFAR), mRNA.	203	SAM.				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						TCTTTACAGGGAAAGGTTTTT	0.493000													17	33					0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159005	18159005	+	Missense_Mutation	SNP	C	C	T	rs141255495		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr11:18159005C>T	uc021qek.1	+	0	256	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C	MRGPRX3_uc001mnu.3_Missense_Mutation_p.R86C	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA.	86						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						TTCGCCGTTACGCCTCATCAA	0.547000													45	67					0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49169177	49169177	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr12:49169177C>T	uc001rsh.4	-	9	2549	c.1889G>A	c.(1888-1890)cGt>cAt	p.R630H	ADCY6_uc001rsi.4_Missense_Mutation_p.R630H|ADCY6_uc001rsj.4_Missense_Mutation_p.R630H|ADCY6_uc010slw.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	630					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						ATCGATGGCACGGCTCAGGAA	0.587000													35	37					0	0	1	0	0
RHOXF1	158800	broad.mit.edu	37	X	119249405	119249405	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:119249405C>T	uc004esk.1	-	0	443	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	AK123976_uc004esi.1_Intron	NM_139282	NP_644811	Q8NHV9	RHXF1_HUMAN	Homo sapiens Rhox homeobox family, member 1 (RHOXF1), mRNA.	123					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						TTGAGTGTGTCGGAAAACACT	0.577000													37	52					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24810839	24810839	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr10:24810839G>A	uc001iru.4	+	11	2840	c.2437G>A	c.(2437-2439)Gtc>Atc	p.V813I	KIAA1217_uc001irs.3_Missense_Mutation_p.V733I|KIAA1217_uc001irt.4_Missense_Mutation_p.V778I|KIAA1217_uc010qcy.2_Missense_Mutation_p.V778I|KIAA1217_uc010qcz.2_Missense_Mutation_p.V778I|KIAA1217_uc001irv.1_Missense_Mutation_p.V628I|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.3_Missense_Mutation_p.V496I|KIAA1217_uc001irz.3_Missense_Mutation_p.V496I|KIAA1217_uc001irx.3_Missense_Mutation_p.V496I|KIAA1217_uc001iry.3_Missense_Mutation_p.V496I	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	813					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CATGACAGACGTCCTGACCAT	0.632000													29	35					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	by1000genomes	TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr13:25161397C>G	uc001upm.3	+	7		c.921C>G			TPTE2P6_uc001upn.3_Non-coding_Transcript|TPTE2P6_uc001upo.3_Non-coding_Transcript					Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA.																		TGAAACATCTCTACAACTGGA	0.343000													3	16					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55432696	55432696	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr11:55432696C>G	uc010rik.2	+	0	54	c.54C>G	c.(52-54)aaC>aaG	p.N18K		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCACAGAGAACCTGGAGCTGT	0.383000													33	50					0	0	1	0	0
PGS1	9489	broad.mit.edu	37	17	76395556	76395556	+	Silent	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr17:76395556C>T	uc002jvm.3	+	4	651	c.639C>T	c.(637-639)aaC>aaT	p.N213N	PGS1_uc010wtt.2_Non-coding_Transcript|PGS1_uc010dho.3_Non-coding_Transcript|PGS1_uc002jvn.3_5'UTR|PGS1_uc002jvo.3_Non-coding_Transcript|PGS1_uc002jvp.1_5'Flank	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	Homo sapiens phosphatidylglycerophosphate synthase 1 (PGS1), mRNA.	213					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			AGCGCTTCAACGAGACCATCG	0.607000													38	60					0	0	1	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213302876	213302876	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:213302876C>T	uc010ptr.2	+	5	638	c.479C>T	c.(478-480)tCc>tTc	p.S160F	RPS6KC1_uc001hkd.3_Missense_Mutation_p.S148F|RPS6KC1_uc010pts.2_5'UTR|RPS6KC1_uc010ptt.2_5'UTR|RPS6KC1_uc010ptu.2_5'UTR|RPS6KC1_uc010ptv.2_5'UTR|RPS6KC1_uc001hke.3_5'UTR	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA.	160					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CTAGGCTTCTCCAGTGACAGT	0.333000													21	43					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515028	140515028	+	Silent	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr5:140515028G>A	uc003liq.3	+	0	229	c.12G>A	c.(10-12)gcG>gcA	p.A4A		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	4					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGAGACTGCGCTAGCAAAAA	0.463000													24	57					0	0	1	0	0
ADAT3	113179	broad.mit.edu	37	19	1912242	1912242	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr19:1912242G>A	uc002luh.3	+	1	420	c.148G>A	c.(148-150)Gtc>Atc	p.V50I	SCAMP4_uc002lui.1_Intron|SCAMP4_uc002luj.3_Intron|SCAMP4_uc002luk.3_Intron|SCAMP4_uc010dss.3_Intron|ADAT3_uc021umn.1_Missense_Mutation_p.V50I	NM_138422	NP_612431	Q96EY9	ADAT3_HUMAN	Homo sapiens adenosine deaminase, tRNA-specific 3 (ADAT3), mRNA.	50					tRNA processing		hydrolase activity|zinc ion binding			breast(1)|kidney(3)|pancreas(1)|skin(2)	7		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCGCGCCCGTCCTGGACAA	0.736000													8	7					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147924917	147924917	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:147924917C>A	uc004fcp.3	+	6	1701	c.1222C>A	c.(1222-1224)Cca>Aca	p.P408T	AFF2_uc004fco.3_Missense_Mutation_p.P375T|AFF2_uc004fcq.3_Missense_Mutation_p.P404T|AFF2_uc004fcr.3_Missense_Mutation_p.P375T|AFF2_uc011mxb.2_Missense_Mutation_p.P379T|AFF2_uc004fcs.3_Missense_Mutation_p.P375T|AFF2_uc011mxc.2_Missense_Mutation_p.P49T	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	408					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GTGGAATGACCCAACCACCAG	0.388000													23	36					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124389946	124389946	+	Nonsense_Mutation	SNP	C	C	T	rs143073434	by1000genomes	TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr10:124389946C>T	uc001lgk.1	+	44	5684	c.5578C>T	c.(5578-5580)Cga>Tga	p.R1860*	DMBT1_uc001lgl.1_Nonsense_Mutation_p.R1850*|DMBT1_uc001lgm.1_Nonsense_Mutation_p.R1232*|DMBT1_uc021qaf.1_Nonsense_Mutation_p.R1860*|DMBT1_uc021qag.1_Nonsense_Mutation_p.R1850*|DMBT1_uc021qah.1_Nonsense_Mutation_p.R1232*|DMBT1_uc009xzz.1_Nonsense_Mutation_p.R1860*|DMBT1_uc010qtx.1_Nonsense_Mutation_p.R580*|DMBT1_uc009yab.1_Nonsense_Mutation_p.R563*|DMBT1_uc009yac.1_Nonsense_Mutation_p.R154*	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1860	CUB 1.		R -> L (in dbSNP:rs7099177).		epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CATTCACTTTCGAAGTGACAT	0.428000													42	8					0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	133692545	133692545	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr7:133692545A>G	uc003vrk.3	+	16	2679	c.2644A>G	c.(2644-2646)Acc>Gcc	p.T882A	EXOC4_uc011kpo.2_Missense_Mutation_p.T781A|EXOC4_uc003vrl.3_Missense_Mutation_p.T492A|EXOC4_uc011kpp.2_Missense_Mutation_p.T414A|EXOC4_uc011kpq.2_Missense_Mutation_p.T170A	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	Homo sapiens exocyst complex component 4 (EXOC4), transcript variant 1, mRNA.	882					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GCAGAATTTGACCAACATCAC	0.473000													14	26					0	0	1	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67219060	67219060	+	Silent	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr16:67219060G>A	uc002erx.1	-	10	1969	c.1728C>T	c.(1726-1728)cgC>cgT	p.R576R	KIAA0895L_uc002ert.3_5'Flank|KIAA0895L_uc002eru.3_5'Flank|EXOC3L1_uc002erv.1_Non-coding_Transcript|EXOC3L1_uc002erw.1_Silent_p.R227R|EXOC3L1_uc010vje.1_Silent_p.R473R|EXOC3L1_uc002ery.1_Silent_p.R478R	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	Homo sapiens exocyst complex component 3-like 1 (EXOC3L1), mRNA.	576					exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						GGTTCCGCACGCGCCAGAAGT	0.677000													51	53					0	0	1	0	0
CDC42EP2	10435	broad.mit.edu	37	11	65088659	65088659	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr11:65088659C>T	uc021qli.1	+	0	290	c.290C>T	c.(289-291)cCg>cTg	p.P97L	CDC42EP2_uc001odl.3_Missense_Mutation_p.P97L	NM_006779	NP_006770	O14613	BORG1_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 2 (CDC42EP2), mRNA.	97					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						CGGGAGCTCCCGGACGGCCCA	0.682000													29	44					0	0	1	0	0
CCR6	1235	broad.mit.edu	37	6	167550589	167550589	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr6:167550589G>A	uc003qvl.3	+	12	3347	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	CCR6_uc010kkm.3_Missense_Mutation_p.E291K|CCR6_uc003qvn.4_Missense_Mutation_p.E291K|CCR6_uc003qvm.4_Missense_Mutation_p.E291K	NM_031409	NP_113597	P51684	CCR6_HUMAN	Homo sapiens chemokine (C-C motif) receptor 6 (CCR6), transcript variant 2, mRNA.	291					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CTGCCAGAGCGAAAAGCTAAT	0.483000													35	67					0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220287663	220287664	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:220287663_220287664insA	uc001hmc.3	+	11	1591_1592	c.1487_1488insA	c.(1486-1488)ttafs	p.L496fs	RNU5F-1_uc021pjd.1_Intron	NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA.	496					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CAGGAATTGTTAAAAAAGGTGA	0.366													22	59	---	---	---	---					
SCN5A	6331	broad.mit.edu	37	3	38592967	38592977	+	Frame_Shift_Del	DEL	GCGGCCTATTC	GCGGCCTATTC	-			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr3:38592967_38592977delGCGGCCTATTC	uc021wvo.1	-	26	4938_4948	c.4886_4896delGAATAGGCCGC	c.(4885-4896)cgaataggccgcfs	p.R1629fs	SCN5A_uc021wvk.1_Frame_Shift_Del_p.R1596fs|SCN5A_uc021wvl.1_Frame_Shift_Del_p.R1575fs|SCN5A_uc021wvm.1_Frame_Shift_Del_p.R1611fs|SCN5A_uc021wvn.1_Frame_Shift_Del_p.R1628fs|SCN5A_uc021wvp.1_Frame_Shift_Del_p.R1629fs|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Frame_Shift_Del_p.R1441fs|SCN5A_uc021wvi.1_Frame_Shift_Del_p.R1495fs	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1629					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.I1630I(3)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTCTGAGGATGCGGCCTATTCGGGCCAGGCG	0.592													13	116	---	---	---	---					
SOGA3	387104	broad.mit.edu	37	6	127836020	127836021	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr6:127836020_127836021delTG	uc003qbd.3	-	2	2138_2139	c.1273_1274delCA	c.(1273-1275)cagfs	p.Q425fs		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	425						integral to membrane											TTCCCCGGTCTGGGCGTAGCGG	0.663													30	52	---	---	---	---					
CEL	1056	broad.mit.edu	37	9	135946658	135946658	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr9:135946658delC	uc010naa.1	+	10	1794	c.1778delC	c.(1777-1779)gccfs	p.A593fs		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	590	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GACTCCGGGGCCCCCCCCGTG	0.816													2	4	---	---	---	---					
NET1	10276	broad.mit.edu	37	10	5496339	5496341	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr10:5496339_5496341delCTC	uc001iia.3	+	8	1018_1020	c.880_882delCTC	c.(880-882)ctcdel	p.L294del	NET1_uc010qar.2_In_Frame_Del_p.L113del|NET1_uc001iib.3_In_Frame_Del_p.L240del|NET1_uc010qas.2_In_Frame_Del_p.L113del	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	Homo sapiens neuroepithelial cell transforming 1 (NET1), transcript variant 1, mRNA.	294	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell growth|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	p.L240I(1)|p.L294I(1)|p.Q293H(1)		breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CCAGCGATGTCTCGAGTCTCCCT	0.433													22	27	---	---	---	---					
DGKZ	8525	broad.mit.edu	37	11	46388900	46388900	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr11:46388900delC	uc001ncn.1	+	2	913	c.788delC	c.(787-789)gccfs	p.A263fs	DGKZ_uc001nch.2_Frame_Shift_Del_p.A91fs|DGKZ_uc010rgq.2_Frame_Shift_Del_p.A79fs|DGKZ_uc010rgr.2_Frame_Shift_Del_p.A79fs|DGKZ_uc001ncj.2_Frame_Shift_Del_p.A40fs|DGKZ_uc001nck.2_5'UTR|DGKZ_uc001ncm.2_Frame_Shift_Del_p.A74fs|DGKZ_uc001ncl.2_Frame_Shift_Del_p.A74fs|DGKZ_uc009yky.1_Frame_Shift_Del_p.A74fs|DGKZ_uc010rgs.1_Frame_Shift_Del_p.A74fs|DGKZ_uc001nci.2_Frame_Shift_Del_p.A79fs	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA.	263					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein C-terminus binding|protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		ACCCCTGGGGCCCCGTGCAGC	0.662													21	29	---	---	---	---					
DCP1B	196513	broad.mit.edu	37	12	2062350	2062351	+	In_Frame_Ins	INS	-	-	TGG			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr12:2062350_2062351insTGG	uc001qjx.1	-	6	835_836	c.755_756insCCA	c.(754-756)cag>caCCAg	p.251_252insH	DCP1B_uc010sdy.1_In_Frame_Ins_p.149_150insH	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	Homo sapiens DCP1 decapping enzyme homolog B (S. cerevisiae) (DCP1B), mRNA.	251				H -> HQ (in Ref. 1; AAN62764, 2; BAB71118 and 4; AAH15368/AAH43437).	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(16)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAGT	0.550													22	34	---	---	---	---					
BCL11B	64919	broad.mit.edu	37	14	99641543	99641544	+	In_Frame_Ins	INS	-	-	CTC			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr14:99641543_99641544insCTC	uc001yga.3	-	3	1896_1897	c.1629_1630insGAG	c.(1627-1632)insGAG	p.543_544insE	BCL11B_uc001ygb.3_In_Frame_Ins_p.472_473insE	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	543	Glu-rich.					nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TCCAGTAGCAGctcctcctcct	0.698			T	TLX3	T-ALL								3	5	---	---	---	---					
SPIRE2	84501	broad.mit.edu	37	16	89895123	89895123	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr16:89895123delG	uc002foz.1	+	0	217	c.165delG	c.(163-165)ccgfs	p.P55fs	SPIRE2_uc010civ.1_5'UTR|SPIRE2_uc010ciw.1_Frame_Shift_Del_p.P55fs	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	Homo sapiens spire homolog 2 (Drosophila) (SPIRE2), mRNA.	55	KIND.				transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		GGGGCTCGCCGGGCCGGCGCC	0.781													2	4	---	---	---	---					
BC071797	0	broad.mit.edu	37	21	9766012	9766013	+	RNA	INS	-	-	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr21:9766012_9766013insA	uc011abu.2	+	7		c.509_510insA								Homo sapiens, clone IMAGE:4720764, mRNA.																		ACAACTATCAGAAAATGTATGT	0.277													3	4	---	---	---	---					
BCORL1	63035	broad.mit.edu	37	X	129149592	129149592	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:129149592delG	uc022cdu.1	+	2	2888	c.2844delG	c.(2842-2844)cagfs	p.Q948fs	BCORL1_uc010nrd.1_Frame_Shift_Del_p.Q850fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	948					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GAATGAATCAGGGGCCTGAGG	0.577													39	79	---	---	---	---					
BCORL1	63035	broad.mit.edu	37	X	129190033	129190034	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:129190033_129190034delTG	uc022cdu.1	+	11	5102_5103	c.5058_5059delTG	c.(5056-5061)actgtgfs	p.T1686fs	BCORL1_uc004evc.2_Frame_Shift_Del_p.T522fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1686					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCTCTGAGACTGTGGAGCTGGT	0.619													26	67	---	---	---	---					
MAMLD1	10046	broad.mit.edu	37	X	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:149639633_149639635delGCA	uc011mxu.2	+	2	2023_2025	c.1713_1715delGCA	c.(1711-1716)ctgcag>ctg	p.Q581del	MAMLD1_uc011mxt.1_In_Frame_Del_p.Q568del|MAMLD1_uc004fee.2_In_Frame_Del_p.Q606del|MAMLD1_uc011mxv.2_In_Frame_Del_p.Q581del|MAMLD1_uc011mxw.2_In_Frame_Del_p.Q533del	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	606					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611													7	156	---	---	---	---					
