Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
NTSR1	4923	broad.mit.edu	37	20	61386087	61386087	+	Silent	SNP	G	T	T			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr20:61386087G>T	uc002ydf.3	+	1	1136	c.765G>T	c.(763-765)ctG>ctT	p.L255L		NM_002531	NP_002522	P30989	NTR1_HUMAN	Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.	255						Golgi apparatus|endoplasmic reticulum|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			TCTCGGTCCTGAACACCATCA	0.607000														21			16		2.23348e-06	2.53128e-06	1	1	0
SEC24C	9632	broad.mit.edu	37	10	75519464	75519464	+	Silent	SNP	G	A	A			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr10:75519464G>A	uc001juw.3	+	4	573	c.393G>A	c.(391-393)ccG>ccA	p.P131P	SEC24C_uc010qkn.2_Non-coding_Transcript|SEC24C_uc009xrj.2_5'UTR|SEC24C_uc001jux.3_Silent_p.P131P|SEC24C_uc010qko.2_5'UTR|SEC24C_uc010qkp.2_Intron|SEC24C_uc010qkq.2_Intron	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	131					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GCCCTCCCCCGACAAGTGCAC	0.617000														49			13		0	0	1	0	0
NCALD	83988	broad.mit.edu	37	8	102705065	102705065	+	Silent	SNP	C	T	T			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr8:102705065C>T	uc003yke.3	-	2	807	c.438G>A	c.(436-438)gaG>gaA	p.E146E	NCALD_uc003ykf.3_Silent_p.E146E|NCALD_uc003ykg.3_Silent_p.E146E|NCALD_uc003ykh.3_Silent_p.E146E|NCALD_uc003yki.3_Silent_p.E146E|NCALD_uc003ykj.3_Silent_p.E146E|NCALD_uc003ykk.3_Silent_p.E146E|NCALD_uc003ykl.3_Silent_p.E146E	NM_032041	NP_114430	P61601	NCALD_HUMAN	Homo sapiens neurocalcin delta (NCALD), transcript variant 8, mRNA.	146	EF-hand 4.				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			CTGTTCTTTTCTCTGGGGTTG	0.493000														98			7		0	0	1	0	0
ASB4	51666	broad.mit.edu	37	7	95166910	95166910	+	Missense_Mutation	SNP	T	C	C			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr7:95166910T>C	uc011kij.2	+	4	1191	c.1120T>C	c.(1120-1122)Ttt>Ctt	p.F374L		NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 4 (ASB4), transcript variant 1, mRNA.	374	SOCS box.				intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CCACTCTCTCTTTACTGTGTG	0.398000														235			5		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136555689	136555689	+	Missense_Mutation	SNP	G	A	A			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr2:136555689G>A	uc002tuu.1	-	12	4897	c.4886C>T	c.(4885-4887)gCa>gTa	p.A1629V		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1629	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AATAGGATGTGCAAACCAGCC	0.567000											OREG0014998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		33			3		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117769	117769	+	RNA	SNP	C	A	A			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chrGL000205.1:117769C>A	uc002kgk.4	+	0		c.1147C>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGTTGCAGTTCGAGCCAAGGC	0.587000														24			6		0.00198382	0.00204393	1	1	0
GTF2H4	2968	broad.mit.edu	37	6	30879492	30879492	+	Missense_Mutation	SNP	T	A	A			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr6:30879492T>A	uc003nsa.1	+	8	980	c.773T>A	c.(772-774)cTg>cAg	p.L258Q	GTF2H4_uc010jsf.2_Missense_Mutation_p.L258Q|GTF2H4_uc011dmv.1_Missense_Mutation_p.L202Q|VARS2_uc003nsc.2_5'Flank|VARS2_uc003nsd.3_5'Flank|VARS2_uc011dmx.2_5'Flank|VARS2_uc011dmy.2_5'Flank|VARS2_uc011dmz.2_5'Flank	NM_001517	NP_001508	Q92759	TF2H4_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 4, 52kDa (GTF2H4), mRNA.	258					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						AGTGATTCTCTGTTGAACTTC	0.498000								Nucleotide excision repair (NER)						88			9		0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69881358	69881358	+	Missense_Mutation	SNP	G	A	A			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr10:69881358G>A	uc001jnm.4	+	2	348	c.163G>A	c.(163-165)Gga>Aga	p.G55R	MYPN_uc001jnl.1_Missense_Mutation_p.G55R|MYPN_uc001jnn.4_Intron|MYPN_uc001jno.4_Missense_Mutation_p.G55R|MYPN_uc001jnp.1_Missense_Mutation_p.G55R|MYPN_uc009xps.3_Missense_Mutation_p.G55R|MYPN_uc009xpt.3_Missense_Mutation_p.G55R|MYPN_uc010qit.2_5'UTR|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	55	Interaction with CARP.|Poly-Gly.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TGAAGGAGGCGGAGGCCAAGA	0.527000														30			20		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85630103	85630103	+	Missense_Mutation	SNP	A	G	G			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr4:85630103A>G	uc003hpd.3	-	52	8584	c.8176T>C	c.(8176-8178)Tat>Cat	p.Y2726H	WDFY3_uc003hpe.1_Missense_Mutation_p.Y337H	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	2726	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AAGACAGGATACTGCATGAGA	0.338000														214			5		0	0	1	0	0
SLC7A10	56301	broad.mit.edu	37	19	33702229	33702229	+	Silent	SNP	G	A	A			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr19:33702229G>A	uc002num.2	-	6	1065	c.918C>T	c.(916-918)ttC>ttT	p.F306F	SLC7A10_uc002nul.2_Missense_Mutation_p.R45W	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	Homo sapiens solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 (SLC7A10), mRNA.	306					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GCTTCTCCCCGAAGGTCTGGG	0.622000														60			8		0	0	1	0	0
AHCYL2	23382	broad.mit.edu	37	7	129037098	129037098	+	Missense_Mutation	SNP	G	T	T			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr7:129037098G>T	uc011kov.2	+	4	819	c.756G>T	c.(754-756)caG>caT	p.Q252H	AHCYL2_uc003vot.3_Missense_Mutation_p.Q251H|AHCYL2_uc003vov.3_Missense_Mutation_p.Q149H|AHCYL2_uc011kox.2_Missense_Mutation_p.Q149H	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	Homo sapiens adenosylhomocysteinase-like 2 (AHCYL2), transcript variant 1, mRNA.	252					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						TGGGGGCCCAGTGCCGATGGG	0.493000														38			18		1.28384e-07	1.50519e-07	1	1	0
DNAH6	1768	broad.mit.edu	37	2	84928427	84928427	+	Silent	SNP	G	T	T			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr2:84928427G>T	uc010fgb.3	+	48	8162	c.8025G>T	c.(8023-8025)ctG>ctT	p.L2675L		NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	2675					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATCTTTACCTGTCTATGCTGT	0.423000														58			36		9.45814e-24	1.14849e-23	1	1	0
POLR3C	10623	broad.mit.edu	37	1	145594109	145594109	+	Missense_Mutation	SNP	G	T	T			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr1:145594109G>T	uc001eog.3	-	13	1535	c.1492C>A	c.(1492-1494)Caa>Aaa	p.Q498K	POLR3C_uc001eoh.3_Missense_Mutation_p.Q485K|POLR3C_uc009wix.3_Intron	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide C (62kD) (POLR3C), mRNA.	485					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			TCTATTTCTTGTAACTGTGCT	0.438000														103			70		5.32961e-40	6.71136e-40	1	1	0
CEACAM5	1048	broad.mit.edu	37	19	42219764	42219764	+	Missense_Mutation	SNP	A	G	G			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr19:42219764A>G	uc002orl.3	+	3	1020	c.899A>G	c.(898-900)cAa>cGa	p.Q300R	CEACAM5_uc010ehz.1_3'UTR|CEACAM5_uc002orj.1_Missense_Mutation_p.Q300R	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	300	Ig-like 3.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TATACGTGCCAAGCCCATAAC	0.473000														125			4		0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	T	T			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr20:33345744C>T	uc002xav.3	-	7	3378	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_uc002xaw.3_Silent_p.Q269Q|NCOA6_uc021wcd.1_Silent_p.Q269Q|NCOA6_uc021wce.1_Silent_p.Q269Q|NCOA6_uc021wcf.1_Silent_p.Q269Q|NCOA6_uc010gew.1_Silent_p.Q226Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(29)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000														71			3		0	0	1	0	0
ASIC1	41	broad.mit.edu	37	12	50472361	50472361	+	Splice_Site	SNP	G	A	A			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr12:50472361G>A	uc001rvv.3	+	6	1223	c.994_splice	c.e6+1	p.G332_splice	ASIC1_uc001rvw.3_Splice_Site_p.G332_splice|ASIC1_uc009zln.3_Splice_Site_p.G123_splice|ASIC1_uc009zlo.3_Splice_Site_p.G332_splice|ASIC1_uc021qxr.1_Splice_Site_p.G366_splice	NM_020039	NP_064423	P78348	ACCN2_HUMAN	Homo sapiens amiloride-sensitive cation channel 2, neuronal (ACCN2), transcript variant 1, mRNA.	332					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CACATGCCAGGTCAGGCCTGG	0.597000														48			14		0	0	1	0	0
VAMP1	6843	broad.mit.edu	37	12	6574085	6574085	+	Missense_Mutation	SNP	A	G	G			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr12:6574085A>G	uc001qok.3	-	3	457	c.311T>C	c.(310-312)aTc>aCc	p.I104T	TAPBPL_uc001qoi.1_Intron|VAMP1_uc001qoj.3_Missense_Mutation_p.I104T|VAMP1_uc001qol.3_Missense_Mutation_p.I104T	NM_014231	NP_055046	P23763	VAMP1_HUMAN	Homo sapiens vesicle-associated membrane protein 1 (synaptobrevin 1) (VAMP1), transcript variant 1, mRNA.	104					neurotransmitter secretion|vesicle-mediated transport	cell junction|endocytic vesicle membrane|integral to plasma membrane|mitochondrial outer membrane|synaptic vesicle membrane|synaptosome	protein binding			endometrium(1)|large_intestine(1)|prostate(1)	3					Botulinum Toxin Type B(DB00042)	GATGGCACAGATGGCTCCCAG	0.488000														25			3		0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50619875	50619875	+	Missense_Mutation	SNP	G	A	A			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr14:50619875G>A	uc001wxs.4	-	12	2172	c.2074C>T	c.(2074-2076)Cgg>Tgg	p.R692W	SOS2_uc010tql.2_Missense_Mutation_p.R659W|SOS2_uc010tqm.1_Non-coding_Transcript	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	692	N-terminal Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					ACCCAATGCCGAAATACATTT	0.313000														187			9		0	0	1	0	0
RDH10	157506	broad.mit.edu	37	8	74235228	74235228	+	Missense_Mutation	SNP	G	A	A			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr8:74235228G>A	uc003xzi.3	+	5	1671	c.983G>A	c.(982-984)aGa>aAa	p.R328K	RDH10_uc003xzj.3_Missense_Mutation_p.R163K|AK128216_uc003xzk.1_Intron	NM_172037	NP_742034	Q8IZV5	RDH10_HUMAN	Homo sapiens retinol dehydrogenase 10 (all-trans) (RDH10), mRNA.	328					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	NADP-retinol dehydrogenase activity|binding|retinol dehydrogenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			ATTGCTCAAAGAAAGCAAGCC	0.383000														47			6		0	0	1	0	0
FZD7	8324	broad.mit.edu	37	2	202901005	202901005	+	Silent	SNP	C	T	T			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr2:202901005C>T	uc002uyw.1	+	0	1696	c.1635C>T	c.(1633-1635)ggC>ggT	p.G545G		NM_003507	NP_003498	O75084	FZD7_HUMAN	Homo sapiens frizzled family receptor 7 (FZD7), mRNA.	545					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						TCACCACTGGCTTCTGGATCT	0.637000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		44			3		0	0	1	0	0
RXFP3	51289	broad.mit.edu	37	5	33937368	33937368	+	Missense_Mutation	SNP	G	A	A			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr5:33937368G>A	uc003jic.2	+	0	878	c.523G>A	c.(523-525)Gcc>Acc	p.A175T		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 3 (RXFP3), mRNA.	175						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CTTCCTCACTGCCATGAGTGT	0.617000														52			4		0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70426913	70426913	+	Missense_Mutation	SNP	A	G	G			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr10:70426913A>G	uc001jok.4	+	6	5078	c.4573A>G	c.(4573-4575)Atc>Gtc	p.I1525V		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1525					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GTGGGATGGCATCCCTCTTCC	0.502000														74			46		0	0	1	0	0
TMEM151B	441151	broad.mit.edu	37	6	44243233	44243233	+	Missense_Mutation	SNP	C	A	A			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr6:44243233C>A	uc003oxh.2	+	2	670	c.670C>A	c.(670-672)Ctg>Atg	p.L224M	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_001137560	NP_001131032	Q8IW70	T151B_HUMAN	Homo sapiens transmembrane protein 151B (TMEM151B), mRNA.	224						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)	6						GCTGGTGGGGCTGGAGGGCGC	0.687000														13			11		9.31168e-06	1.02128e-05	1	1	0
OR5F1	338674	broad.mit.edu	37	11	55762021	55762021	+	Silent	SNP	G	A	A			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr11:55762021G>A	uc010riv.2	-	0	81	c.81C>T	c.(79-81)ctC>ctT	p.L27L		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AAAACAAAAAGAGGATAATCT	0.378000														56			30		0	0	1	0	0
DDX56	54606	broad.mit.edu	37	7	44611269	44611269	+	Missense_Mutation	SNP	A	G	G			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr7:44611269A>G	uc003tlg.3	-	5	1355	c.712T>C	c.(712-714)Tgt>Cgt	p.C238R	DDX56_uc003tlh.3_Non-coding_Transcript|DDX56_uc010kyg.3_Missense_Mutation_p.C238R|DDX56_uc010kyh.1_Non-coding_Transcript	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 (DDX56), mRNA.	238	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|identical protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						TCAGTCTCACAGACCACCTGA	0.522000														104			4		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25744302	25744302	+	Nonsense_Mutation	SNP	G	T	T			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr8:25744302G>T	uc003xes.2	-	9	1243	c.978C>A	c.(976-978)tgC>tgA	p.C326*	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	326	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GGGCTCCTTTGCAGAACTGTT	0.493000														103			6		8.12818e-05	8.6362e-05	1	1	0
CHIA	27159	broad.mit.edu	37	1	111857960	111857960	+	Missense_Mutation	SNP	G	A	A	rs140031055		TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr1:111857960G>A	uc001eas.3	+	5	540	c.383G>A	c.(382-384)cGc>cAc	p.R128H	CHIA_uc001ear.3_Missense_Mutation_p.R20H|CHIA_uc001eaq.3_Missense_Mutation_p.R20H|CHIA_uc009wgc.3_Missense_Mutation_p.R20H|CHIA_uc001eat.3_Intron|CHIA_uc001eav.3_5'UTR|CHIA_uc001eau.3_Intron|CHIA_uc009wgd.3_Intron	NM_201653	NP_068569	Q9BZP6	CHIA_HUMAN	Homo sapiens chitinase, acidic (CHIA), transcript variant 4, mRNA.	128					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		AAATTCCTGCGCCAGTATGAG	0.547000														58			4		0	0	1	0	0
LRRTM2	26045	broad.mit.edu	37	5	138209476	138209476	+	Silent	SNP	T	G	G			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr5:138209476T>G	uc011cyz.1	-	1	1231	c.774A>C	c.(772-774)ctA>ctC	p.L258L	CTNNA1_uc003ldh.3_Intron|CTNNA1_uc011cyx.2_Intron|CTNNA1_uc011cyy.2_Intron|CTNNA1_uc003ldi.3_Intron|CTNNA1_uc003ldj.3_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Silent_p.L124L|CTNNA1_uc003ldl.3_5'Flank	NM_015564	NP_056379	O43300	LRRT2_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 2 (LRRTM2), mRNA.	258						cell junction|integral to membrane|postsynaptic membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAGTCAGGTCTAGCTTTTCTA	0.438000														118			70		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54557616	54557616	+	Missense_Mutation	SNP	T	C	C			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr15:54557616T>C	uc021smr.1	+	7	3734	c.3734T>C	c.(3733-3735)gTt>gCt	p.V1245A	UNC13C_uc021sms.1_Missense_Mutation_p.V1247A|UNC13C_uc002acl.3_Missense_Mutation_p.V77A	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1247	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TATGTTACAGTTCAAGTTGGA	0.328000														238			5		0	0	1	0	0
WNT5B	81029	broad.mit.edu	37	12	1742019	1742019	+	Nonsense_Mutation	SNP	G	A	A			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr12:1742019G>A	uc009zdq.3	+	2	518	c.276G>A	c.(274-276)tgG>tgA	p.W92*	WNT5B_uc001qjj.3_Nonsense_Mutation_p.W92*|WNT5B_uc001qjk.3_Nonsense_Mutation_p.W92*|WNT5B_uc001qjl.3_Nonsense_Mutation_p.W92*	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5B (WNT5B), transcript variant 1, mRNA.	92					Wnt receptor signaling pathway, calcium modulating pathway|angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			AGCGGCGGTGGAATTGCAGCA	0.567000														40			4		0	0	1	0	0
RBM10	8241	broad.mit.edu	37	X	47041266	47041266	+	Splice_Site	SNP	G	A	A			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chrX:47041266G>A	uc004dhi.3	+	15	2117	c.1888_splice	c.e15+1	p.P630_splice	RBM10_uc004dhf.3_Splice_Site_p.P565_splice|RBM10_uc004dhh.3_Splice_Site_p.P564_splice|RBM10_uc010nhq.3_Splice_Site_p.P488_splice|RBM10_uc004dhg.3_Splice_Site_p.P487_splice	NM_001204468	NP_001191397	P98175	RBM10_HUMAN	Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA.	565					RNA splicing|mRNA processing	chromatin remodeling complex	RNA binding|nucleotide binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						AGCCAGTACCGTGAGTAGCCA	0.592000														7			29		0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41010226	41010226	+	Missense_Mutation	SNP	G	T	T			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chrX:41010226G>T	uc004dfb.3	+	12	2312	c.1679G>T	c.(1678-1680)cGc>cTc	p.R560L	USP9X_uc004dfc.3_Missense_Mutation_p.R560L	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	560					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GAAGAACTTCGCACAAATGAC	0.338000														204			4		0.00909568	0.00909568	1	1	0
PTPRE	5791	broad.mit.edu	37	10	129866455	129866455	+	Silent	SNP	C	T	T			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr10:129866455C>T	uc009yat.3	+	12	1362	c.945C>T	c.(943-945)ttC>ttT	p.F315F	PTPRE_uc001lkb.3_Silent_p.F304F|PTPRE_uc010qup.1_Non-coding_Transcript|PTPRE_uc009yau.2_Silent_p.F304F|PTPRE_uc001lkd.3_Silent_p.F246F|PTPRE_uc010quq.1_Silent_p.F205F	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	304	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.F304F(1)|p.F246F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GGCCCGACTTCGGAGTGCCTT	0.622000														35			9		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120539668	120539668	+	Missense_Mutation	SNP	T	A	A	rs146913210	by1000genomes	TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr1:120539668T>A	uc001eik.3	-	3	1000	c.703A>T	c.(703-705)Acc>Tcc	p.T235S	NOTCH2_uc001eil.3_Missense_Mutation_p.T235S|NOTCH2_uc021osy.1_Missense_Mutation_p.T196S|NOTCH2_uc001eim.4_Missense_Mutation_p.T152S	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	235	EGF-like 6.				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCCGACAGGTGCCTCCATTG	0.572000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					215			4		0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148939579	148939579	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr3:148939579delT	uc003ewy.4	-	0	254	c.1delA	c.(1-3)atgfs	p.M1fs	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewz.3_Frame_Shift_Del_p.M1fs	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	1					cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AAAATCTTCATTTTTTTCCCC	0.343													---	273	---	---	7	---					
SP8	221833	broad.mit.edu	37	7	20824941	20824943	+	In_Frame_Del	DEL	GCC	-	-			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr7:20824941_20824943delGCC	uc003suz.3	-	1	584_586	c.493_495delGGC	c.(493-495)ggcdel	p.G165del	SP8_uc003suy.3_In_Frame_Del_p.G147del|SP8_uc022aak.1_In_Frame_Del_p.G147del	NM_182700	NP_945194	Q8IXZ3	SP8_HUMAN	Homo sapiens Sp8 transcription factor (SP8), transcript variant 1, mRNA.	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G165delG(1)|p.G147delG(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGCGGAGGAgccgccgccgccg	0.729													---	4	---	---	3	---					
PTPN3	5774	broad.mit.edu	37	9	112219611	112219612	+	Frame_Shift_Del	DEL	AT	-	-			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr9:112219611_112219612delAT	uc004bed.2	-	2	318_319	c.206_207delAT	c.(205-207)tatfs	p.Y69fs	PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Frame_Shift_Del_p.Y69fs|PTPN3_uc011lwh.1_5'UTR|PTPN3_uc004bee.4_Frame_Shift_Del_p.Y69fs	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	69	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GTAAACCAAAATATTCCTTTTC	0.401													---	119	---	---	20	---					
STRAP	11171	broad.mit.edu	37	12	16047015	16047015	+	Frame_Shift_Del	DEL	A	-	-			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr12:16047015delA	uc010shw.2	+	5	831	c.477delA	c.(475-477)atafs	p.I159fs	STRAP_uc001rdc.4_Frame_Shift_Del_p.I146fs|STRAP_uc001rdd.4_Frame_Shift_Del_p.I52fs	NM_007178	NP_009109	Q9Y3F4	STRAP_HUMAN	Homo sapiens serine/threonine kinase receptor associated protein (STRAP), mRNA.	146					RNA splicing|mRNA processing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				CTTCTGGTATAAAAAAAGCTC	0.294													---	154	---	---	7	---					
MLLT6	4302	broad.mit.edu	37	17	36873792	36873793	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr17:36873792_36873793insC	uc002hqi.4	+	10	1772_1773	c.1759_1760insC	c.(1759-1761)gccfs	p.A587fs	MLLT6_uc002hqj.3_Frame_Shift_Ins_p.A22fs|MLLT6_uc002hqk.4_5'Flank|MIR4726_uc021twg.1_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (MLLT6), mRNA.	587					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					AGGGACCTCGGCCCTGCCCCGC	0.663			T	MLL	AL								---	85	---	---	7	---					
CTNNBL1	56259	broad.mit.edu	37	20	36470751	36470752	+	Frame_Shift_Ins	INS	-	A	A			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr20:36470751_36470752insA	uc021wdj.1	+	12	1413_1414	c.1322_1323insA	c.(1321-1323)ctafs	p.L441fs	CTNNBL1_uc002xhh.3_Frame_Shift_Ins_p.L254fs|CTNNBL1_uc002xhi.3_Non-coding_Transcript|CTNNBL1_uc002xhj.3_Frame_Shift_Ins_p.L189fs	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	Homo sapiens catenin, beta like 1 (CTNNBL1), mRNA.	441					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GTTGACAGACTAATGGAGTTGC	0.460													---	77	---	---	44	---					
