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
NETO1	81832	broad.mit.edu	37	18	70461400	70461400	+	Silent	SNP	G	G	A			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr18:70461400G>A	ENST00000327305.6	-	6	1248	c.591C>T	c.(589-591)agC>agT	p.S197S	NETO1_ENST00000299430.2_Silent_p.S196S|NETO1_ENST00000583169.1_Silent_p.S197S	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	197	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.S197S(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CAACAGCCTCGCTAGCAGTAG	0.463000													4	64					0	0	1	0	0
TMEM30A	55754	broad.mit.edu	37	6	75994253	75994253	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr6:75994253T>G	ENST00000230461.6	-	1	431	c.102A>C	c.(100-102)aaA>aaC	p.K34N	TMEM30A_ENST00000475111.2_Missense_Mutation_p.K34N	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	34						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCGTTGCTGTTTGAAGGCCG	0.582000													14	66					0	0	1	0	0
IGLL1	3543	broad.mit.edu	37	22	23917238	23917238	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr22:23917238G>C	ENST00000330377.2	-	2	355	c.238C>G	c.(238-240)Ccc>Gcc	p.P80A	IGLL1_ENST00000249053.3_Intron	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	80					immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						CAGCACCTGGGGCCAGTCCAG	0.622000													4	34					0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21112187	21112187	+	Silent	SNP	G	G	A			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr18:21112187G>A	ENST00000269228.5	-	25	4370	c.3816C>T	c.(3814-3816)cgC>cgT	p.R1272R	NPC1_ENST00000412552.2_Silent_p.R954R	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1272					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAAGCCGTTCGCGCTCTGTTC	0.498000													5	97					0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54940143	54940143	+	Silent	SNP	G	G	A			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr17:54940143G>A	ENST00000284061.3	+	12	1875	c.1695G>A	c.(1693-1695)gcG>gcA	p.A565A		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	565					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					ATATAAAGGCGACTGAATAGA	0.363000													4	37					0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57876598	57876598	+	Silent	SNP	C	C	T			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr4:57876598C>T	ENST00000381227.1	+	12	1889	c.1476C>T	c.(1474-1476)gaC>gaT	p.D492D	POLR2B_ENST00000431623.2_Silent_p.D417D|POLR2B_ENST00000314595.5_Silent_p.D492D|POLR2B_ENST00000441246.2_Silent_p.D485D|POLR2B_ENST00000510355.1_3'UTR			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	492					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TTGGTAGAGACGGCAAGCTAG	0.428000													4	90					0	0	1	0	0
CEP41	95681	broad.mit.edu	37	7	130038878	130038878	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr7:130038878G>A	ENST00000223208.4	-	11	1246	c.976C>T	c.(976-978)Cga>Tga	p.R326*	CEP41_ENST00000541543.1_Nonsense_Mutation_p.R238*|CEP41_ENST00000343969.5_Nonsense_Mutation_p.R254*	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	326					G2/M transition of mitotic cell cycle	centrosome|cytosol											TGGTTCAGTCGGCCTGAAGGG	0.547000													5	76					0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33474632	33474632	+	Silent	SNP	G	G	A	rs138261778		TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr10:33474632G>A	ENST00000265371.4	-	16	2880	c.2355C>T	c.(2353-2355)atC>atT	p.I785I	NRP1_ENST00000374867.2_Silent_p.I785I|NRP1_ENST00000395995.1_Silent_p.I785I			O14786	NRP1_HUMAN	neuropilin 1	785	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TTCCTTTTCCGATTTCGCCCT	0.388000													3	45					0	0	1	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726459	25726459	+	Silent	SNP	G	G	A			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr6:25726459G>A	ENST00000297012.3	-	1	331	c.297C>T	c.(295-297)ggC>ggT	p.G99G		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	99					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TGGTCACGCCGCCCAAAAGCT	0.532000													4	131					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17415834	17415834	+	Silent	SNP	C	C	T			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr11:17415834C>T	ENST00000302539.4	-	37	4652	c.4527G>A	c.(4525-4527)acG>acA	p.T1509T	ABCC8_ENST00000389817.3_Silent_p.T1508T	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1508	ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CAATGGAAGCCGTGGCCTCGT	0.577000													4	63					0	0	1	0	0
THRA	7067	broad.mit.edu	37	17	38245543	38245543	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr17:38245543G>A	ENST00000450525.2	+	9	1558	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	THRA_ENST00000546243.1_Missense_Mutation_p.R356H|THRA_ENST00000264637.4_Missense_Mutation_p.R356H|THRA_ENST00000584985.1_Missense_Mutation_p.R356H|THRA_ENST00000394121.4_Missense_Mutation_p.R356H	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	356	Ligand-binding.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	GTCAACCACCGCAAACACAAC	0.597000													6	162					0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118464682	118464682	+	Silent	SNP	C	C	T			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr10:118464682C>T	ENST00000369209.3	-	3	338	c.234G>A	c.(232-234)ccG>ccA	p.P78P		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	78							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GGATGCATTCCGGCTCCTTGG	0.582000													3	32					0	0	1	0	0
GUSBP1	0	broad.mit.edu	37	5	21491446	21491446	+	RNA	SNP	G	G	T	rs150396680	by1000genomes	TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr5:21491446G>T	ENST00000607545.1	+	0	179					NR_027026.1																						TGAATTACCAGATCTCCGTCA	0.532000													3	25					2.0095e-06	2.09687e-06	1	1	0
UBA6	55236	broad.mit.edu	37	4	68500187	68500187	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr4:68500187G>A	ENST00000322244.4	-	21	1951	c.1892C>T	c.(1891-1893)cCa>cTa	p.P631L		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	631					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AATAGCAGCTGGAAAGGATTT	0.343000													7	62					0	0	1	0	0
MITF	4286	broad.mit.edu	37	3	69987117	69987117	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr3:69987117C>T	ENST00000352241.4	+	3	662	c.499C>T	c.(499-501)Cat>Tat	p.H167Y	MITF_ENST00000314589.5_Missense_Mutation_p.H151Y|MITF_ENST00000314557.6_Missense_Mutation_p.H60Y|MITF_ENST00000531774.1_Intron|MITF_ENST00000448226.2_Missense_Mutation_p.H167Y|MITF_ENST00000472437.1_Missense_Mutation_p.H115Y|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000394351.3_Missense_Mutation_p.H60Y|MITF_ENST00000328528.6_Missense_Mutation_p.H166Y|MITF_ENST00000394355.2_Missense_Mutation_p.H142Y	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	167					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		GCCTGGCGATCATGTCATGCC	0.522000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						6	25					0	0	1	0	0
CPSF4	10898	broad.mit.edu	37	7	99051618	99051618	+	Silent	SNP	G	G	A			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr7:99051618G>A	ENST00000292476.5	+	7	610	c.600G>A	c.(598-600)tcG>tcA	p.S200S	CPSF4_ENST00000436336.2_Intron|CPSF4_ENST00000451876.1_Intron|CPSF4_ENST00000471455.1_3'UTR|PTCD1_ENST00000555673.1_Intron|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000441580.1_Intron|ATP5J2_ENST00000466753.1_Intron			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	200					modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding	p.S200S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TACAAAGGTCGTCCTCCTTGA	0.512000													8	213					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142569697	142569697	+	Silent	SNP	G	G	A			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr7:142569697G>A	ENST00000359396.3	-	15	2186	c.1941C>T	c.(1939-1941)taC>taT	p.Y647Y		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	647					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AGGCCTGTGCGTAGCGTTGGA	0.567000													4	71					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137688229	137688229	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr9:137688229G>A	ENST00000371817.3	+	35	3223	c.2809G>A	c.(2809-2811)Gga>Aga	p.G937R		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	937	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGCAACTCCGGAGGTGACGG	0.567000													4	74					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35902595	35902595	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr17:35902595T>C	ENST00000339208.6	-	15	2821	c.2681A>G	c.(2680-2682)tAt>tGt	p.Y894C	SYNRG_ENST00000345615.4_Missense_Mutation_p.Y816C|SYNRG_ENST00000591288.1_Intron|SYNRG_ENST00000394378.2_Missense_Mutation_p.Y816C|SYNRG_ENST00000585472.1_Missense_Mutation_p.Y815C|SYNRG_ENST00000502449.2_Intron|SYNRG_ENST00000346661.4_Missense_Mutation_p.Y894C	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	894					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGACCAGTCATAGCTTGTAAG	0.443000													6	57					0	0	1	0	0
FILIP1L	11259	broad.mit.edu	37	3	99569630	99569630	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr3:99569630G>A	ENST00000331335.5	-	5	1360	c.890C>T	c.(889-891)aCg>aTg	p.T297M	FILIP1L_ENST00000487087.1_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.T57M|FILIP1L_ENST00000354552.3_Missense_Mutation_p.T297M|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.T57M	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	297						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TGTGGTCTGCGTTTGCAGTTC	0.478000													8	169					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28752222	28752222	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr2:28752222C>A	ENST00000422425.2	+	7	408	c.364C>A	c.(364-366)Cca>Aca	p.P122T	PLB1_ENST00000327757.5_Missense_Mutation_p.P122T	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	122	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCCTTCTGTTCCAATGCCTGT	0.488000													5	38					0.0293803	0.0293803	1	1	0
RNF138	51444	broad.mit.edu	37	18	29706716	29706716	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr18:29706716G>A	ENST00000261593.3	+	7	1080	c.622G>A	c.(622-624)Gtt>Att	p.V208I	RNF138_ENST00000257190.5_Missense_Mutation_p.V114I	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	208					Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						CAGAAATTTCGTTAGTCATCT	0.289000													6	97					0	0	1	0	0
EMD	2010	broad.mit.edu	37	X	153609503	153609503	+	Silent	SNP	C	C	T			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chrX:153609503C>T	ENST00000369842.4	+	6	999	c.711C>T	c.(709-711)atC>atT	p.I237I	EMD_ENST00000492448.1_3'UTR|EMD_ENST00000369835.3_Silent_p.I202I	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	237					cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	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)					TCTTTGTGATCGTCCTCTTCT	0.592000													5	12					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179568878	179568878	+	Silent	SNP	G	G	A			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr2:179568878G>A	ENST00000589042.1	-	106	30443	c.30219C>T	c.(30217-30219)atC>atT	p.I10073I	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.I8829I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.I9756I|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9756	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACGCACCTTCGATTCTGAGTT	0.468000													4	122					0	0	1	0	0
CA2	760	broad.mit.edu	37	8	86389399	86389399	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr8:86389399A>T	ENST00000285379.5	+	6	788	c.558A>T	c.(556-558)gaA>gaT	p.E186D		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	186					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	TCCTTCCTGAATCCTTGGATT	0.517000													6	127					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72589312	72589312	+	Silent	SNP	G	G	A			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr18:72589312G>A	ENST00000299687.5	+	4	5037	c.5037G>A	c.(5035-5037)acG>acA	p.T1679T	ZNF407_ENST00000584235.1_3'UTR|ZNF407_ENST00000577538.1_Silent_p.T1679T	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ACTACAGGACGCACACAGGTG	0.537000													4	46					0	0	1	0	0
KAT5	10524	broad.mit.edu	37	11	65482370	65482370	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr11:65482370C>T	ENST00000341318.4	+	8	1252	c.1018C>T	c.(1018-1020)Cgt>Tgt	p.R340C	KAT5_ENST00000534650.1_Missense_Mutation_p.R96C|KAT5_ENST00000377046.3_Missense_Mutation_p.R307C|KAT5_ENST00000352980.4_Missense_Mutation_p.R255C|KAT5_ENST00000530446.1_Missense_Mutation_p.R288C	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	307					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						GATTGATGGACGTAAGAACAA	0.507000													4	37					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													3	42					0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19766138	19766138	+	Silent	SNP	G	G	A			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr19:19766138G>A	ENST00000357324.6	-	11	1547	c.1521C>T	c.(1519-1521)gcC>gcT	p.A507A	ATP13A1_ENST00000291503.5_Silent_p.A389A|ATP13A1_ENST00000496082.1_5'UTR	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	507					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GCTTGGCCAGGGCGATGAGGG	0.627000													3	24					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30354640	30354640	+	Silent	SNP	C	C	T			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr21:30354640C>T	ENST00000361371.4	-	5	777	c.627G>A	c.(625-627)ccG>ccA	p.P209P	LTN1_ENST00000389194.2_Silent_p.P255P|LTN1_ENST00000389195.2_Silent_p.P255P	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	209							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CAACTTACTGCGGGTCACTGA	0.348000													4	38					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16870875	16870875	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr10:16870875C>T	ENST00000377833.4	-	66	10758	c.10693G>A	c.(10693-10695)Gtc>Atc	p.V3565I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3565	CUB 27.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TAGTTCTGGACACAGTCTCCT	0.498000											OREG0020047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	49					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95746638	95746638	+	Missense_Mutation	SNP	C	C	T	rs138879299		TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr5:95746638C>T	ENST00000311106.3	-	8	1172	c.935G>A	c.(934-936)cGt>cAt	p.R312H	PCSK1_ENST00000508626.1_Missense_Mutation_p.R265H|PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	312	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATCTCCCTGACGCCCCCCGTT	0.532000													4	143					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152474877	152474877	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr2:152474877C>T	ENST00000397345.3	-	74	11190	c.10988G>A	c.(10987-10989)cGt>cAt	p.R3663H	NEB_ENST00000172853.10_Missense_Mutation_p.R3420H|NEB_ENST00000409198.1_Missense_Mutation_p.R3420H|NEB_ENST00000603639.1_Missense_Mutation_p.R3663H|NEB_ENST00000427231.2_Missense_Mutation_p.R3663H|NEB_ENST00000604864.1_Missense_Mutation_p.R3663H	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3663					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGACGCTGACGGTAGATAGT	0.443000													5	112					0	0	1	0	0
RPL32P3	0	broad.mit.edu	37	3	129116038	129116038	+	RNA	SNP	C	C	T			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr3:129116038C>T	ENST00000514355.1	-	0	412																				lung(1)	1						GAGGCTTTCCCGCCCAGGGAC	0.567000													4	78					0	0	1	0	0
PCDHB6	0	broad.mit.edu	37	5	140531962	140531962	+	Silent	SNP	G	G	A			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr5:140531962G>A	ENST00000231136.1	+	1	2124	c.2124G>A	c.(2122-2124)gcG>gcA	p.A708A	PCDHB6_ENST00000543635.1_Silent_p.A572A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		708					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.A708A(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTCGTGGCGGTGCGGCTGT	0.682000													10	153					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47920349	47920349	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr7:47920349G>A	ENST00000289672.2	-	21	3547	c.3497C>T	c.(3496-3498)aCg>aTg	p.T1166M		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1166	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CAGGACGTACGTCTCTCCACT	0.468000													4	34					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20592031	20592031	+	Silent	SNP	A	A	G			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr20:20592031A>G	ENST00000202677.6	-	14	1870	c.1728T>C	c.(1726-1728)gcT>gcC	p.A576A		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	576					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TCTGCATGACAGCTTCTGTTA	0.378000													4	140					0	0	1	0	0
NTSR2	23620	broad.mit.edu	37	2	11810004	11810006	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr2:11810004_11810006delCAG	ENST00000306928.5	-	1	284_286	c.250_252delCTG	c.(250-252)del	p.L84del		NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN	neurotensin receptor 2	84					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GCACGCCGACCAGCAGCAGCAGC	0.719													4	5	---	---	---	---					
RP11-522N14.1	0	broad.mit.edu	37	12	124762409	124762411	+	RNA	DEL	TCC	TCC	-			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr12:124762409_124762411delTCC	ENST00000540762.1	+	0	444																											cttttcctcttcctcctcctcct	0.586													2	4	---	---	---	---					
DNM1P47	0	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539		TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110																											AGTTCATCTTCTCAGAGCTGCTG	0.576													3	5	---	---	---	---					
RP11-178C3.2	0	broad.mit.edu	37	17	58066608	58066608	+	RNA	DEL	T	T	-			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr17:58066608delT	ENST00000586209.1	+	0	158																											TTGATTGTGATTTTTTTTTTT	0.313													4	3	---	---	---	---