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
RBAK	57786	broad.mit.edu	37	7	5097370	5097370	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr7:5097370G>A	ENST00000396912.1	+	4	717	c.198G>A	c.(196-198)ccG>ccA	p.P66P	RBAK_ENST00000353796.3_Silent_p.P66P|RBAK_ENST00000407184.1_Silent_p.P66P|RBAK_ENST00000396904.2_Silent_p.P66P	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	66	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GAGAGGAGCCGTGGATAATGG	0.453000													19	94					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12265567	12265567	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:12265567C>A	ENST00000256194.4	+	21	2980	c.2692C>A	c.(2692-2694)Cat>Aat	p.H898N	MICAL2_ENST00000342902.5_Missense_Mutation_p.H898N|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000537344.1_Intron	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	898						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GTCTCATACTCATCCTCCATC	0.473000													25	166					3.01185e-09	3.16032e-09	1	1	0
CDH9	1007	broad.mit.edu	37	5	26885757	26885757	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:26885757G>A	ENST00000231021.4	-	11	2020	c.1848C>T	c.(1846-1848)ctC>ctT	p.L616L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	616					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GAATCGCAACGAGAGCTCCCG	0.512000													12	22					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161302579	161302579	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:161302579G>A	ENST00000428797.2	+	7	845	c.490G>A	c.(490-492)Gct>Act	p.A164T	GABRA1_ENST00000437025.2_Missense_Mutation_p.A164T|GABRA1_ENST00000444819.1_Missense_Mutation_p.A164T|GABRA1_ENST00000023897.6_Missense_Mutation_p.A164T|GABRA1_ENST00000420560.1_Missense_Mutation_p.A164T|GABRA1_ENST00000393943.4_Missense_Mutation_p.A164T	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	164					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GACAGTGAGAGCTGAATGTCC	0.373000													13	62					0	0	1	0	0
HS6ST1	9394	broad.mit.edu	37	2	129026288	129026288	+	Silent	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr2:129026288C>T	ENST00000259241.6	-	2	697	c.684G>A	c.(682-684)acG>acA	p.T228T		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	228					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CCGACCAGTCCGTGCCCTCGT	0.662000													5	67					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53644779	53644779	+	Silent	SNP	G	G	A	rs77716783	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr19:53644779G>A	ENST00000452676.2	-	5	1731	c.1305C>T	c.(1303-1305)tgC>tgT	p.C435C	ZNF347_ENST00000334197.7_Silent_p.C434C|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.C435C	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AGGCTTTGCCGCACTCATTAC	0.423000													48	87					0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47101692	47101692	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:47101692G>A	ENST00000377107.2	+	10	1745	c.1391G>A	c.(1390-1392)cGc>cAc	p.R464H	USP11_ENST00000218348.3_Missense_Mutation_p.R507H			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	507					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GATCCGCGCCGCAAGCCAGAG	0.542000													13	39					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117715330	117715330	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr6:117715330C>T	ENST00000368508.3	-	10	1357	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	ROS1_ENST00000368507.3_Missense_Mutation_p.E396K|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	387					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTAACCAGTTCATCCATGATG	0.328000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								3	32					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971000	21971000	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:21971000C>A	ENST00000304494.5	-	2	628	c.358G>T	c.(358-360)Gag>Tag	p.E120*	CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E69*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000530628.2_3'UTR	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	120			E -> A (in non-small cell lung carcinoma).|E -> K (in non-small cell lung carcinoma).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(13)|p.E120*(9)|p.E120K(4)|p.0(1)|p.A118fs*10(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGGCCCAGCTCCTCAGCCAGG	0.726000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			18	22					3.41278e-10	3.60642e-10	1	1	0
ZNF860	344787	broad.mit.edu	37	3	32031962	32031962	+	Missense_Mutation	SNP	A	A	G	rs1808125	by1000genomes	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr3:32031962A>G	ENST00000360311.4	+	2	1940	c.1391A>G	c.(1390-1392)cAt>cGt	p.H464R		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						AAGACCTTCCATCACAATTCA	0.418000													4	58					0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113728844	113728844	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr13:113728844G>A	ENST00000397030.1	+	10	1219	c.1182G>A	c.(1180-1182)ctG>ctA	p.L394L	MCF2L_ENST00000442652.2_Silent_p.L391L|MCF2L_ENST00000375608.3_Silent_p.L391L|MCF2L_ENST00000423482.2_Silent_p.L359L|MCF2L_ENST00000375604.2_Silent_p.L418L|MCF2L_ENST00000375601.3_Silent_p.L365L|MCF2L_ENST00000535094.2_Silent_p.L361L|MCF2L_ENST00000375597.4_Silent_p.L359L|MCF2L_ENST00000434480.2_Silent_p.L367L|MCF2L_ENST00000421756.1_Silent_p.L365L			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	391					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGCACCTGCTGAGGGACCTGG	0.617000													8	60					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821173	5821173	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:5821173C>T	ENST00000381095.3	-	5	2173	c.1546G>A	c.(1546-1548)Gac>Aac	p.D516N	NLGN4X_ENST00000538097.1_Missense_Mutation_p.D516N|NLGN4X_ENST00000275857.6_Missense_Mutation_p.D516N|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D536N|NLGN4X_ENST00000381092.1_Missense_Mutation_p.D516N	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	516					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGCATGACGTCGTTCTTGGAA	0.537000													37	101					0	0	1	0	0
NBPF9	400818	broad.mit.edu	37	1	144828615	144828615	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:144828615C>A	ENST00000338347.4	+	14	1661	c.1661C>A	c.(1660-1662)cCg>cAg	p.P554Q	NBPF9_ENST00000281815.8_Missense_Mutation_p.P152Q|NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000468645.1_3'UTR					neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						TATTCTACTCCGTCAATGTAC	0.453000													18	247					4.96729e-08	5.17571e-08	1	1	0
KDM5A	5927	broad.mit.edu	37	12	406330	406330	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:406330G>A	ENST00000399788.2	-	25	4473	c.4111C>T	c.(4111-4113)Ccc>Tcc	p.P1371S	KDM5A_ENST00000382815.4_Missense_Mutation_p.P1371S	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1371					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AAAAGATTGGGTTCAAGACTA	0.413000			T	NUP98	AML								24	25					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													6	88					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47864939	47864939	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr20:47864939G>C	ENST00000396105.1	-	14	4868	c.4622C>G	c.(4621-4623)aCt>aGt	p.T1541S	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.T1541S	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1541							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TAGCAGCTTAGTACAAGGCAC	0.572000													61	83					0	0	1	0	0
ITGB1	3688	broad.mit.edu	37	10	33208820	33208820	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr10:33208820C>T	ENST00000396033.2	-	11	1597	c.1462G>A	c.(1462-1464)Gcg>Acg	p.A488T	ITGB1_ENST00000302278.3_Missense_Mutation_p.A488T|ITGB1_ENST00000423113.1_Missense_Mutation_p.A488T|ITGB1_ENST00000374956.4_Missense_Mutation_p.A488T	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	488	Cysteine-rich tandem repeats.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TACCTGCACGCGCCACACTCA	0.453000													10	70					0	0	1	0	0
ZCCHC13	389874	broad.mit.edu	37	X	73524500	73524500	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:73524500C>A	ENST00000339534.2	+	1	476	c.399C>A	c.(397-399)tgC>tgA	p.C133*		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	133							nucleic acid binding|zinc ion binding	p.C133C(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						GTTACCGATGCGGCGAGATTG	0.552000													27	67					2.48779e-11	2.66677e-11	1	1	0
DICER1	23405	broad.mit.edu	37	14	95570037	95570037	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr14:95570037G>A	ENST00000526495.1	-	23	3987	c.3696C>T	c.(3694-3696)agC>agT	p.S1232S	DICER1_ENST00000343455.3_Silent_p.S1232S|DICER1_ENST00000556045.1_Silent_p.S130S|DICER1_ENST00000393063.1_Silent_p.S1232S|DICER1_ENST00000541352.1_Silent_p.S1232S|DICER1_ENST00000527414.1_Silent_p.S1232S			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1232					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TACATTCATCGCTGGGCTGGG	0.433000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				52	108					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174003	51174003	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:51174003G>A	ENST00000440970.1	-	2	2270	c.1839C>T	c.(1837-1839)atC>atT	p.I613I	SALL1_ENST00000251020.4_Silent_p.I710I|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	710					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCCGGTGGCAGATGATGCACT	0.542000													37	61					0	0	1	0	0
CHN2	1124	broad.mit.edu	37	7	29552210	29552210	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr7:29552210G>A	ENST00000222792.6	+	13	1796	c.1266G>A	c.(1264-1266)atG>atA	p.M422I	CHN2_ENST00000546235.1_Missense_Mutation_p.M407I|CHN2_ENST00000409041.4_Missense_Mutation_p.M286I|CHN2_ENST00000539389.1_Missense_Mutation_p.M278I|CHN2_ENST00000539406.1_Missense_Mutation_p.M497I|CHN2_ENST00000495789.2_Missense_Mutation_p.M435I|CHN2_ENST00000421775.2_Missense_Mutation_p.M228I|CHN2_ENST00000424025.2_Missense_Mutation_p.M241I|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000435288.2_Missense_Mutation_p.M146I|CHN2_ENST00000439711.2_Missense_Mutation_p.M240I	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	422	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						ACAATTTCATGAATGCAGAAA	0.423000													21	29					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9785382	9785382	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr3:9785382G>A	ENST00000383829.2	+	8	2836	c.2432G>A	c.(2431-2433)cGc>cAc	p.R811H	BRPF1_ENST00000302054.3_Missense_Mutation_p.R805H|BRPF1_ENST00000469066.1_3'UTR|BRPF1_ENST00000457855.1_Missense_Mutation_p.R805H|BRPF1_ENST00000433861.2_Missense_Mutation_p.R805H|BRPF1_ENST00000424362.1_Missense_Mutation_p.R804H	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	805	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					AGTGTGGGCCGCTCACGGCGT	0.592000													17	11					0	0	1	0	0
NNT	23530	broad.mit.edu	37	5	43616103	43616103	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:43616103C>G	ENST00000264663.5	+	4	756	c.535C>G	c.(535-537)Cag>Gag	p.Q179E	NNT_ENST00000512996.2_Missense_Mutation_p.Q48E|NNT_ENST00000344920.4_Missense_Mutation_p.Q179E	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	179					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GGCAATGGACCAGGTTCCAAG	0.423000													14	93					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55566403	55566403	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr10:55566403G>C	ENST00000373965.2	-	36	5385	c.4991C>G	c.(4990-4992)tCt>tGt	p.S1664C	PCDH15_ENST00000414778.1_Missense_Mutation_p.S1661C	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCATCATCAGACTGTGTGTG	0.388000										HNSCC(58;0.16)			34	65					0	0	1	0	0
TCEA3	6920	broad.mit.edu	37	1	23724057	23724057	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:23724057C>T	ENST00000450454.2	-	7	751	c.645G>A	c.(643-645)atG>atA	p.M215I		NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	215	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		TTTCTGATGCCATCTTGTCAC	0.498000													12	59					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99250815	99250815	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr15:99250815G>T	ENST00000268035.6	+	2	730	c.119G>T	c.(118-120)cGc>cTc	p.R40L	IGF1R_ENST00000558762.1_Missense_Mutation_p.R40L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	40					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	ATCGACATCCGCAACGACTAT	0.502000													10	31					1.58986e-06	1.63372e-06	1	1	0
CDH7	1005	broad.mit.edu	37	18	63511084	63511084	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr18:63511084C>T	ENST00000536984.2	+	7	1712	c.1018C>T	c.(1018-1020)Cgg>Tgg	p.R340W	CDH7_ENST00000323011.3_Missense_Mutation_p.R340W|CDH7_ENST00000397968.2_Missense_Mutation_p.R340W			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	340	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTACACGCTACGGATAGAAGC	0.423000													16	47					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170491	113170491	+	Silent	SNP	G	G	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:113170491G>C	ENST00000401783.2	-	38	7725	c.7389C>G	c.(7387-7389)ctC>ctG	p.L2463L	SVEP1_ENST00000297826.5_Silent_p.L389L|SVEP1_ENST00000374469.1_Silent_p.L2440L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2463	Sushi 18.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.L2466L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGCAGGTATAGAGAGCTGTGC	0.478000													9	27					0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48145460	48145460	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr17:48145460C>T	ENST00000320031.8	+	4	785	c.455C>T	c.(454-456)tCa>tTa	p.S152L	ITGA3_ENST00000007722.7_Missense_Mutation_p.S152L|ITGA3_ENST00000544892.1_Intron	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	152					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TGGTCAGGGTCAGAAGACCAG	0.617000													15	76					0	0	1	0	0
DSCC1	79075	broad.mit.edu	37	8	120859281	120859281	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr8:120859281C>T	ENST00000313655.4	-	4	740	c.526G>A	c.(526-528)Gag>Aag	p.E176K		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	176					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATTTCTTCCTCACTTGCCTGA	0.308000													21	43					0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	34001260	34001260	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr17:34001260G>A	ENST00000262325.7	+	16	2755	c.2202G>A	c.(2200-2202)ggG>ggA	p.G734G	AP2B1_ENST00000589344.1_Silent_p.G748G|AP2B1_ENST00000538556.1_Silent_p.G677G|AP2B1_ENST00000537622.2_Silent_p.G748G|AP2B1_ENST00000312678.8_Silent_p.G748G|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000592545.1_Silent_p.G710G	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	734					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ACCGCCAAGGGCACATCTATA	0.418000													43	95					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71517433	71517433	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr14:71517433G>T	ENST00000304743.2	+	23	4849	c.4403G>T	c.(4402-4404)tGg>tTg	p.W1468L	PCNX_ENST00000439984.3_Missense_Mutation_p.W1357L|PCNX_ENST00000238570.5_Missense_Mutation_p.W1468L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1468						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CAGATCACATGGGGTTCTGCT	0.388000													105	30					2.5327e-61	2.85888e-61	1	1	0
GPR97	222487	broad.mit.edu	37	16	57719693	57719693	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:57719693G>A	ENST00000333493.4	+	11	1556	c.1395G>A	c.(1393-1395)gcG>gcA	p.A465A	RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Silent_p.A345A|GPR97_ENST00000327655.6_Silent_p.A255A	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	465				A -> V (in Ref. 4; AAH64508).	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A465A(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTGCTACAGCGGTCAAGGAGC	0.607000													14	46					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240256066	240256066	+	Silent	SNP	A	A	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:240256066A>G	ENST00000319653.9	+	1	887	c.657A>G	c.(655-657)caA>caG	p.Q219Q		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	219	Gln-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	p.Q354_Q362delQQLQLQLQQ(1)		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)			agctccagcaacagcagcagc	0.672000													3	12					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166908262	166908262	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr2:166908262C>G	ENST00000423058.2	-	6	948	c.931G>C	c.(931-933)Gag>Cag	p.E311Q	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.E311Q|SCN1A_ENST00000375405.3_Missense_Mutation_p.E311Q|SCN1A_ENST00000303395.4_Missense_Mutation_p.E311Q|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	311						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CAGTCAAACTCAAAGACAGTT	0.303000													8	34					0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148427475	148427475	+	Missense_Mutation	SNP	G	G	A	rs80338919		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:148427475G>A	ENST00000515425.1	-	3	330	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	SH3TC2_ENST00000512049.1_Missense_Mutation_p.R77W|SH3TC2_ENST00000394358.2_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	77							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCAGAGCCGCCTCCGAGCA	0.522000													5	85					0	0	1	0	0
ZMYND11	10771	broad.mit.edu	37	10	293375	293375	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr10:293375G>A	ENST00000397962.3	+	12	1624	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	ZMYND11_ENST00000381604.4_Missense_Mutation_p.R359Q|ZMYND11_ENST00000397959.3_Missense_Mutation_p.R314Q|ZMYND11_ENST00000558098.2_Missense_Mutation_p.R399Q|ZMYND11_ENST00000381607.4_Missense_Mutation_p.R305Q|ZMYND11_ENST00000381602.4_Missense_Mutation_p.R359Q|ZMYND11_ENST00000602682.1_Missense_Mutation_p.R314Q|ZMYND11_ENST00000381591.1_Missense_Mutation_p.R399Q|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000509513.2_Missense_Mutation_p.R398Q|ZMYND11_ENST00000381584.1_Missense_Mutation_p.R382Q|ZMYND11_ENST00000309776.4_Missense_Mutation_p.R359Q|ZMYND11_ENST00000402736.1_Missense_Mutation_p.R368Q|ZMYND11_ENST00000535374.1_Missense_Mutation_p.R194Q|ZMYND11_ENST00000545619.1_Missense_Mutation_p.R279Q|ZMYND11_ENST00000403354.1_Missense_Mutation_p.R319Q			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	359					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R360fs*9(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AAGAAAGGACGACGTAATCAA	0.378000													12	43					0	0	1	0	0
TP53INP2	58476	broad.mit.edu	37	20	33296573	33296573	+	Silent	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr20:33296573C>T	ENST00000374810.3	+	3	419	c.30C>T	c.(28-30)ttC>ttT	p.F10F	NCOA6_ENST00000593786.1_Intron|TP53INP2_ENST00000374809.2_Silent_p.F10F	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	10						nucleus				endometrium(1)|urinary_tract(1)	2						GCCTCTTCTTCAGCACCCCCT	0.657000													4	36					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17142048	17142048	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr10:17142048C>T	ENST00000377833.4	-	14	1786	c.1721G>A	c.(1720-1722)aGa>aAa	p.R574K		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	574	CUB 1.				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)	TCTCCCATTTCTTAAATGTTC	0.403000													20	104					0	0	1	0	0
GOLGA6L17P	642402	broad.mit.edu	37	15	85053142	85053142	+	RNA	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr15:85053142C>T	ENST00000414190.2	-	0	310					NR_003246.2																						TTTTTCAATTCCTTGACCCGC	0.413000													5	8					0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100382357	100382357	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr6:100382357G>T	ENST00000281806.2	-	5	938	c.624C>A	c.(622-624)ttC>ttA	p.F208L	MCHR2_ENST00000369212.1_Missense_Mutation_p.F208L|MCHR2_ENST00000445970.1_Missense_Mutation_p.F208L	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	208						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGGGTAGAGGGAAAAAAAAAG	0.343000													58	31					7.22619e-39	8.0955e-39	1	1	0
ZNF641	121274	broad.mit.edu	37	12	48737262	48737262	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:48737262T>C	ENST00000544117.2	-	6	1519	c.811A>G	c.(811-813)Aaa>Gaa	p.K271E	ZNF641_ENST00000547026.1_Missense_Mutation_p.K257E|ZNF641_ENST00000301042.3_Missense_Mutation_p.K271E|ZNF641_ENST00000448928.3_Missense_Mutation_p.K248E			Q96N77	ZN641_HUMAN	zinc finger protein 641	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						ACAAACTGTTTCCCACACTGG	0.532000													15	58					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129159271	129159271	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:129159271G>A	ENST00000540052.1	+	6	4039	c.3995G>A	c.(3994-3996)cGa>cAa	p.R1332Q	BCORL1_ENST00000218147.7_Missense_Mutation_p.R1332Q|BCORL1_ENST00000359304.2_Intron|BCORL1_ENST00000303743.5_Missense_Mutation_p.R1332Q	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1332					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						AGGAAGAAACGAAGACGGCAG	0.582000													35	36					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802876	185802876	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr2:185802876T>C	ENST00000302277.6	+	4	3347	c.2753T>C	c.(2752-2754)gTc>gCc	p.V918A		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	918						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ACCACATCTGTCTGTGTAGCT	0.388000													23	57					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20119263	20119263	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:20119263G>A	ENST00000396085.1	+	32	6523	c.6162G>A	c.(6160-6162)gaG>gaA	p.E2054E	NAV2_ENST00000311043.8_Silent_p.E1115E|NAV2_ENST00000527559.2_Silent_p.E2039E|NAV2_ENST00000349880.4_Silent_p.E2051E|NAV2_ENST00000533917.1_Silent_p.E1115E|NAV2_ENST00000540292.1_Silent_p.E2041E|NAV2_ENST00000396087.3_Silent_p.E2110E|NAV2_ENST00000360655.4_Silent_p.E1987E	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2110						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGGTTGGAGAGAACACGACCA	0.478000													10	101					0	0	1	0	0
GDPD5	81544	broad.mit.edu	37	11	75152211	75152211	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:75152211G>A	ENST00000526177.1	-	10	2934	c.1056C>T	c.(1054-1056)atC>atT	p.I352I	GDPD5_ENST00000533784.1_Silent_p.I371I|GDPD5_ENST00000533805.1_Silent_p.I245I|GDPD5_ENST00000529721.1_Silent_p.I490I|GDPD5_ENST00000336898.3_Silent_p.I490I|GDPD5_ENST00000376282.3_Silent_p.I371I|GDPD5_ENST00000443276.2_3'UTR			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	490	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						AACTCACCATGATCCAGAGGG	0.662000													11	36					0	0	1	0	0
RNMT	8731	broad.mit.edu	37	18	13741657	13741657	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr18:13741657T>C	ENST00000383314.2	+	7	1181	c.941T>C	c.(940-942)tTt>tCt	p.F314S	RNMT_ENST00000535051.1_Missense_Mutation_p.F72S|RNMT_ENST00000589866.1_Missense_Mutation_p.F314S|RNMT_ENST00000543302.2_Missense_Mutation_p.F314S|RNMT_ENST00000592764.1_Missense_Mutation_p.F314S|RNMT_ENST00000262173.3_Missense_Mutation_p.F314S			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	314					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						GGGGGCTATTTTATTGGTACT	0.363000													22	75					0	0	1	0	0
GRAMD4	23151	broad.mit.edu	37	22	47059754	47059754	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr22:47059754C>T	ENST00000406902.1	+	7	832	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	GRAMD4_ENST00000361034.3_Missense_Mutation_p.R207W			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	207					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		AAATATGAGACGGCTCAGTGA	0.617000													18	32					0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701141	143701141	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr7:143701141C>T	ENST00000408922.2	+	1	120	c.52C>T	c.(52-54)Cct>Tct	p.P18S		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GGTGGGATTCCCTGGGAGCTT	0.483000													12	16					0	0	1	0	0
CASK	8573	broad.mit.edu	37	X	41401990	41401990	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:41401990C>G	ENST00000318588.9	-	22	2154	c.2109G>C	c.(2107-2109)aaG>aaC	p.K703N	CASK_ENST00000442742.2_Missense_Mutation_p.K680N|CASK_ENST00000378158.1_Missense_Mutation_p.K691N|CASK_ENST00000378163.1_Missense_Mutation_p.K703N|CASK_ENST00000378166.4_Missense_Mutation_p.K703N|CASK_ENST00000361962.4_Missense_Mutation_p.K691N|CASK_ENST00000421587.2_Missense_Mutation_p.K674N			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	703					cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						GCTTCTTTTTCTTGCCAAACC	0.418000													8	71					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr17:7574003G>A	ENST00000269305.4	-	10	1213	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*|TP53_ENST00000420246.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	342	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCAGCTCTCGGAACATCTCG	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			33	11					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140926143	140926143	+	Silent	SNP	T	T	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:140926143T>C	ENST00000298296.1	+	1	42	c.42T>C	c.(40-42)agT>agC	p.S14S		NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	14										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCACCTTCAGTGATGGCAGTC	0.537000													6	105					0	0	1	0	0
KCNK4	50801	broad.mit.edu	37	11	64065047	64065047	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:64065047G>A	ENST00000539216.1	+	4	943	c.583G>A	c.(583-585)Gag>Aag	p.E195K	KCNK4_ENST00000539651.1_Intron|KCNK4_ENST00000394525.2_Missense_Mutation_p.E195K|KCNK4_ENST00000422670.2_Missense_Mutation_p.E195K|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000538767.1_Intron			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	195						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						CTGCTATATGGAGGACTGGAG	0.577000													21	144					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97085024	97085024	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:97085024G>T	ENST00000524981.3	+	11	1553	c.1553G>T	c.(1552-1554)tGc>tTc	p.C518F				Q6ZTY8	CL063_HUMAN		492										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GCTGACATTTGCTCTGTAATT	0.363000													9	36					0.000274275	0.000278007	1	1	0
HYAL4	23553	broad.mit.edu	37	7	123516945	123516945	+	Silent	SNP	G	G	A	rs138391454	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr7:123516945G>A	ENST00000223026.4	+	5	1820	c.1182G>A	c.(1180-1182)gcG>gcA	p.A394A	HYAL4_ENST00000476325.1_Silent_p.A394A	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	394					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TGTGGAACGCGCCCAGTTACC	0.507000													36	51					0	0	1	0	0
MYCT1	80177	broad.mit.edu	37	6	153019042	153019042	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr6:153019042G>A	ENST00000367245.5	+	1	13	c.5G>A	c.(4-6)cGa>cAa	p.R2Q	MYCT1_ENST00000529453.1_Missense_Mutation_p.R2Q	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	2						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CCTTTTATGCGAACACAAGTA	0.323000													22	11					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77267139	77267139	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:77267139T>G	ENST00000341514.6	+	9	2295	c.2140T>G	c.(2140-2142)Ttg>Gtg	p.L714V	ATP7A_ENST00000343533.5_Missense_Mutation_p.L714V|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	714					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TGTTATGAATTTGCTGTCCTT	0.338000													86	215					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22169404	22169404	+	Silent	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:22169404C>T	ENST00000374695.3	-	67	8848	c.8769G>A	c.(8767-8769)ctG>ctA	p.L2923L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2923	Ig-like C2-type 14.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGGGCTGGGCCAGTCCTGGAG	0.637000													5	38					0	0	1	0	0
GHITM	27069	broad.mit.edu	37	10	85903817	85903817	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr10:85903817A>G	ENST00000372134.3	+	4	489	c.296A>G	c.(295-297)tAt>tGt	p.Y99C		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	99					apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						TTGTGCTACTATGGCTTGGGA	0.418000													39	67					0	0	1	0	0
DRD4	1815	broad.mit.edu	37	11	640559	640559	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:640559G>A	ENST00000176183.5	+	4	1228	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K		NM_000797.3	NP_000788.2	P21917	DRD4_HUMAN	dopamine receptor D4	454					activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior	integral to plasma membrane	dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding			NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246)	CTTCAACGCCGAGTTCCGCAA	0.697000													24	70					0	0	1	0	0
MAMDC4	158056	broad.mit.edu	37	9	139749038	139749038	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:139749038C>T	ENST00000445819.1	+	8	894	c.844C>T	c.(844-846)Cgc>Tgc	p.R282C	MAMDC4_ENST00000317446.2_Missense_Mutation_p.R282C|MAMDC4_ENST00000485732.1_3'UTR			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	282	MAM 2.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCCATGGAACCGCTCGGAAGG	0.687000													5	10					0	0	1	0	0
TANGO6	79613	broad.mit.edu	37	16	69056846	69056846	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:69056846G>C	ENST00000261778.1	+	16	2970	c.2958G>C	c.(2956-2958)caG>caC	p.Q986H		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		AGCTGTGCCAGAGGCTGGACT	0.522000													3	9					0	0	1	0	0
SPANXN1	494118	broad.mit.edu	37	X	144337190	144337190	+	Splice_Site	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:144337190G>A	ENST00000370493.3	+	2	834		c.e2-1			NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1									p.?(2)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCTTAACAGATGCAGGAGA	0.443000													16	80					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138724819	138724819	+	Translation_Start_Site	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:138724819C>T	ENST00000370576.4	-	0	68				MCF2_ENST00000414978.1_Intron|MCF2_ENST00000536274.1_De_novo_Start_OutOfFrame|MCF2_ENST00000370578.4_Intron|MCF2_ENST00000520602.1_Intron|MCF2_ENST00000519895.1_Intron	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TCCATTAGCACAGTGGCAGCA	0.433000													3	28					0	0	1	0	0
NELFCD	51497	broad.mit.edu	37	20	57568743	57568743	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr20:57568743C>T	ENST00000602795.1	+	13	1607	c.1559C>T	c.(1558-1560)cCt>cTt	p.P520L	NELFCD_ENST00000479207.1_Intron|NELFCD_ENST00000344018.3_Missense_Mutation_p.P511L					negative elongation factor complex member C/D																		TATGTACTTCCTGTTGTCAGT	0.483000													34	72					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63547695	63547695	+	Silent	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr18:63547695C>T	ENST00000397968.2	+	12	2349	c.1923C>T	c.(1921-1923)gaC>gaT	p.D641D	CDH7_ENST00000323011.3_Silent_p.D641D	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	641					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTATTTTTGACGAAGAAAGAG	0.443000													9	28					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221973	55221973	+	RNA	SNP	C	C	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr19:55221973C>A	ENST00000413439.1	+	0	1500																											CTGTGTCAGTCACGGGAGCAG	0.617000													19	44					6.49762e-13	7.06675e-13	1	1	0
OR5AR1	219493	broad.mit.edu	37	11	56432082	56432082	+	Silent	SNP	A	A	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:56432082A>G	ENST00000302969.2	+	1	945	c.921A>G	c.(919-921)aaA>aaG	p.K307K		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TAATTGGAAAAAAATCTCAAT	0.348000													12	25					0	0	1	0	0
POLR1E	64425	broad.mit.edu	37	9	37486603	37486603	+	Missense_Mutation	SNP	A	A	G	rs1571234	by1000genomes	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:37486603A>G	ENST00000377792.3	+	1	454	c.166A>G	c.(166-168)Aca>Gca	p.T56A	POLR1E_ENST00000377798.4_Intron|POLR1E_ENST00000442009.2_Intron			Q9GZS1	RPA49_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	56				T -> A (in Ref. 1; BAC03629).	rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		CCCCATTCTGACACTCCCTCC	0.562000													3	29					0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180338567	180338567	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:180338567G>A	ENST00000231229.4	+	3	860	c.626G>A	c.(625-627)cGg>cAg	p.R209Q	BTNL8_ENST00000533815.2_Missense_Mutation_p.R25Q|BTNL8_ENST00000511704.1_Missense_Mutation_p.R93Q|BTNL8_ENST00000508408.1_Missense_Mutation_p.R209Q|BTNL8_ENST00000505126.1_Missense_Mutation_p.R2Q|BTNL8_ENST00000400707.3_Missense_Mutation_p.R84Q|BTNL8_ENST00000340184.4_Missense_Mutation_p.R209Q	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	209	Ig-like V-type 2.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTTCCATGCGGCATGCTCAT	0.547000													39	30					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120539834	120539834	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:120539834A>T	ENST00000256646.2	-	4	756	c.537T>A	c.(535-537)tgT>tgA	p.C179*	NOTCH2_ENST00000602566.1_Nonsense_Mutation_p.C140*	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	179	EGF-like 4.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.C179*(1)|p.C140*(1)		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)		CATCAGTCTCACATTTCTGCC	0.552000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				39	51					0	0	1	0	0
CCNJ	54619	broad.mit.edu	37	10	97810064	97810064	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr10:97810064C>T	ENST00000265992.5	+	3	488	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	CCNJ_ENST00000534974.1_Missense_Mutation_p.R41W|ENTPD1-AS1_ENST00000427846.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CCNJ_ENST00000465148.2_Missense_Mutation_p.R41W|CCNJ_ENST00000403870.3_Missense_Mutation_p.R41W|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	41	Cyclin N-terminal.					nucleus		p.R41W(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		AAGTCTCAGACGGTATTTTGC	0.478000													24	58					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263856	140263856	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:140263856C>T	ENST00000289272.2	+	1	2003	c.2003C>T	c.(2002-2004)tCg>tTg	p.S668L	PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S668L|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTGTTGTCGCTGGTGGAG	0.672000													30	38					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971028	21971028	+	Nonsense_Mutation	SNP	C	C	T	rs121913389		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:21971028C>T	ENST00000304494.5	-	2	600	c.330G>A	c.(328-330)tgG>tgA	p.W110*	CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G166R|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G125R|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G125R	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.W110*(33)|p.H83fs*2(2)|p.G166R(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110C(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGACGGCCCCAGGCATCGC	0.736000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			11	17					0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76826174	76826174	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr7:76826174C>T	ENST00000248598.5	-	2	774	c.742G>A	c.(742-744)Ggg>Agg	p.G248R	CCDC146_ENST00000285871.4_Intron|CCDC146_ENST00000431197.1_Intron|RP11-467H10.2_ENST00000459742.1_RNA	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	248	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CAGCCTCCCCCCATGGTCTCC	0.493000													44	65					0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71942214	71942214	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:71942214C>T	ENST00000298229.2	+	12	1682	c.1478C>T	c.(1477-1479)aCg>aTg	p.T493M	INPPL1_ENST00000538751.1_Missense_Mutation_p.T251M|INPPL1_ENST00000541756.1_Missense_Mutation_p.T251M	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	493					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AAGGAGCTTACGGATCTGGAT	0.592000													118	126					0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125288840	125288840	+	Missense_Mutation	SNP	C	C	T	rs151154516	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:125288840C>T	ENST00000304880.2	-	1	732	c.733G>A	c.(733-735)Gtt>Att	p.V245I		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						ACACAAACAACGCAGAGGTGG	0.547000													13	55					0	0	1	0	0
ATP8B5P	158381	broad.mit.edu	37	9	35450086	35450086	+	RNA	SNP	C	C	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:35450086C>A	ENST00000430846.1	+	0	2936																											AACAGAAGATCTGCAGGCTTC	0.418000													23	66					1.50039e-11	1.61999e-11	1	1	0
MEGF6	1953	broad.mit.edu	37	1	3422007	3422007	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:3422007G>A	ENST00000356575.4	-	16	2258	c.2032C>T	c.(2032-2034)Cgg>Tgg	p.R678W	MEGF6_ENST00000294599.4_Missense_Mutation_p.R573W	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	678						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CGCTCGCCCCGGAAGCCAGCC	0.697000													5	9					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91131788	91131788	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:91131788C>A	ENST00000373094.1	+	2	1394	c.549C>A	c.(547-549)aaC>aaA	p.N183K	PCDH11X_ENST00000395337.2_Missense_Mutation_p.N183K|PCDH11X_ENST00000361724.1_Missense_Mutation_p.N183K|PCDH11X_ENST00000298274.8_Missense_Mutation_p.N183K|PCDH11X_ENST00000504220.1_Missense_Mutation_p.N183K|PCDH11X_ENST00000373097.1_Missense_Mutation_p.N183K|PCDH11X_ENST00000406881.1_Missense_Mutation_p.N183K|PCDH11X_ENST00000361655.2_Missense_Mutation_p.N183K|PCDH11X_ENST00000373088.1_Missense_Mutation_p.N183K	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	183	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AGAGTCAAAACATTTTTGGCC	0.289000													27	76					3.62531e-18	4.00126e-18	1	1	0
ABTB1	80325	broad.mit.edu	37	3	127394943	127394943	+	Missense_Mutation	SNP	C	C	G	rs75647091	by1000genomes	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr3:127394943C>G	ENST00000232744.8	+	4	392	c.306C>G	c.(304-306)gaC>gaG	p.D102E	ABTB1_ENST00000453791.2_5'UTR|ABTB1_ENST00000468137.1_5'UTR|ABTB1_ENST00000393363.3_5'UTR			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	102						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						ATTACTATGACGACTTCTTGC	0.642000													36	28					0	0	1	0	0
OCRL	4952	broad.mit.edu	37	X	128696645	128696645	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:128696645C>G	ENST00000371113.4	+	12	1291	c.1126C>G	c.(1126-1128)Ctg>Gtg	p.L376V	OCRL_ENST00000357121.5_Missense_Mutation_p.L376V	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	376					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CAATTCCCATCTGGCTGCACA	0.428000													28	143					0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113332462	113332462	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:113332462G>A	ENST00000389385.4	+	20	2352	c.1855G>A	c.(1855-1857)Gag>Aag	p.E619K	RPH3A_ENST00000447659.2_Missense_Mutation_p.E570K|RPH3A_ENST00000415485.3_Missense_Mutation_p.E619K|RPH3A_ENST00000551052.1_Missense_Mutation_p.E615K|RPH3A_ENST00000420983.2_Missense_Mutation_p.E619K|RPH3A_ENST00000548866.1_Missense_Mutation_p.E570K|RPH3A_ENST00000543106.2_Missense_Mutation_p.E619K|RPH3A_ENST00000549913.2_3'UTR	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	619	C2 2.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CGAATTCAATGAGGTAAGGCT	0.448000													6	23					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538942	27538942	+	RNA	SNP	T	T	C	rs590142	by1000genomes	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr10:27538942T>C	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TCATTATTAATAGGTTCCGGA	0.537000													8	152					0	0	1	0	0
CASC3	22794	broad.mit.edu	37	17	38320341	38320341	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr17:38320341G>A	ENST00000264645.7	+	7	1619	c.1393G>A	c.(1393-1395)Gat>Aat	p.D465N		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	465	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						ACTTGAGCAAGATGTGGCACA	0.517000													13	58					0	0	1	0	0
PLA2G15	23659	broad.mit.edu	37	16	68289698	68289698	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:68289698C>T	ENST00000219345.5	+	5	615	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C	PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000413021.2_Intron|PLA2G15_ENST00000566188.1_Intron	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	178					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CCTGGCCCTCCGCGAGATGAT	0.607000													26	33					0	0	1	0	0
CLPTM1	1209	broad.mit.edu	37	19	45496031	45496031	+	Missense_Mutation	SNP	C	C	T	rs148362509	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr19:45496031C>T	ENST00000541297.2	+	14	2309	c.1844C>T	c.(1843-1845)aCg>aTg	p.T615M	CLPTM1_ENST00000546079.1_Missense_Mutation_p.T527M|CLPTM1_ENST00000337392.5_Missense_Mutation_p.T629M			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	629					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GCACCCACCACGACCACCGCC	0.697000													7	49					0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84255948	84255948	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:84255948G>T	ENST00000308251.4	-	3	1503	c.1435C>A	c.(1435-1437)Caa>Aaa	p.Q479K		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	479						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CCGGTGTTTTGGAGGTGGCGG	0.587000													50	118					4.1673e-28	4.63379e-28	1	1	0
EHMT2	10919	broad.mit.edu	37	6	31864767	31864767	+	Splice_Site	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr6:31864767C>T	ENST00000375537.4	-	2	49		c.e2-1		EHMT2_ENST00000375528.4_Silent_p.Q71Q|EHMT2_ENST00000375530.4_Splice_Site|EHMT2_ENST00000395728.3_Silent_p.Q71Q	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2						DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GGGCCTCCCCCTGGGAGGGGA	0.662000													5	90					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211471538	211471538	+	Missense_Mutation	SNP	C	C	T	rs147443001		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr2:211471538C>T	ENST00000233072.5	+	18	2261	c.2065C>T	c.(2065-2067)Cgc>Tgc	p.R689C	CPS1_ENST00000451903.2_Missense_Mutation_p.R238C|CPS1_ENST00000430249.2_Missense_Mutation_p.R695C	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	689	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CAATGTTGTTCGCCACTTGGG	0.468000													13	67					0	0	1	0	0
KRT7	3855	broad.mit.edu	37	12	52627278	52627278	+	Silent	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:52627278C>T	ENST00000331817.5	+	1	381	c.198C>T	c.(196-198)gtC>gtT	p.V66V		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	66	Head.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		TCCGCGAGGTCACCATTAACC	0.721000													24	14					0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29886350	29886350	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr22:29886350G>A	ENST00000310624.6	+	4	2754	c.2721G>A	c.(2719-2721)gaG>gaA	p.E907E		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	913	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCACCCCAGAGAAGGAGGCTC	0.498000													4	21					0	0	1	0	0
PARD6G	84552	broad.mit.edu	37	18	77960806	77960806	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr18:77960806C>A	ENST00000353265.3	-	2	279	c.82G>T	c.(82-84)Gaa>Taa	p.E28*	AC139100.3_ENST00000588950.1_RNA|PARD6G_ENST00000470488.2_Nonsense_Mutation_p.E28*	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	28	OPR.				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		CTTCGGAATTCCGCCCCAAAC	0.458000													3	20					0.004672	0.004672	1	1	0
ZNF252P	286101	broad.mit.edu	37	8	146220446	146220446	+	RNA	SNP	G	G	A	rs4489360	by1000genomes	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr8:146220446G>A	ENST00000426361.2	-	0	245					NR_023392.1															endometrium(1)	1						TGGCACATACGAGATCTCTGA	0.502000													3	31					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25265103	25265103	+	Splice_Site	SNP	A	A	G	rs7981616	by1000genomes	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr13:25265103A>G	ENST00000218548.6	+	8	1134	c.799_splice	c.e8-1	p.A267_splice	ATP12A_ENST00000381946.3_Intron	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	266					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GGAATAAAGCATCTACTTCCC	0.572000													6	147					0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47774432	47774432	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:47774432A>T	ENST00000376954.1	+	6	755	c.387A>T	c.(385-387)ttA>ttT	p.L129F	ZNF81_ENST00000338637.7_Missense_Mutation_p.L129F			P51508	ZNF81_HUMAN	zinc finger protein 81	129						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				ACTCTATTTTAGAAGAATTGT	0.353000													24	31					0	0	1	0	0
KIF12	113220	broad.mit.edu	37	9	116859596	116859596	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:116859596C>T	ENST00000374118.3	-	4	454	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	206	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						TGCAAAAGTTCCATCAGGGCC	0.607000													3	30					0	0	1	0	0
RBM34	23029	broad.mit.edu	37	1	235301488	235301488	+	Splice_Site	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:235301488G>A	ENST00000408888.3	-	7	933	c.701_splice	c.e7-1	p.R235_splice	RBM34_ENST00000366606.3_Splice_Site_p.R230_splice			P42696	RBM34_HUMAN	RNA binding motif protein 34	235	RRM 1.					nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			TGAATTTTACGTCTACACCAA	0.333000													11	15					0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95683890	95683890	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr8:95683890G>C	ENST00000433389.2	+	11	1633	c.1443G>C	c.(1441-1443)ttG>ttC	p.L481F	ESRP1_ENST00000454170.2_Missense_Mutation_p.L481F|ESRP1_ENST00000358397.5_Missense_Mutation_p.L481F|ESRP1_ENST00000423620.2_Missense_Mutation_p.L481F	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	481	RRM 3.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						ACATGGTTTTGAATCACCAGG	0.383000													7	33					0	0	1	0	0
CCER1	196477	broad.mit.edu	37	12	91348029	91348029	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:91348029G>A	ENST00000358859.2	-	1	924	c.491C>T	c.(490-492)gCg>gTg	p.A164V	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		GCTCACATCCGCTGGCGGGCT	0.687000													14	41					0	0	1	0	0
RNASEL	6041	broad.mit.edu	37	1	182555479	182555479	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:182555479G>A	ENST00000367559.3	-	2	716	c.463C>T	c.(463-465)Cga>Tga	p.R155*	RNASEL_ENST00000444138.1_Nonsense_Mutation_p.R155*|RNASEL_ENST00000539397.1_Nonsense_Mutation_p.R155*	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	155					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TTTGTCTTTCGCCTCAAATTC	0.468000													11	20					0	0	1	0	0
EHD1	10938	broad.mit.edu	37	11	64627529	64627529	+	Missense_Mutation	SNP	G	G	A	rs137874978		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:64627529G>A	ENST00000320631.3	-	3	1036	c.782C>T	c.(781-783)cCg>cTg	p.P261L	EHD1_ENST00000359393.2_Missense_Mutation_p.P261L	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	261					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						GATGAGGAGCGGGTGGGACCA	0.627000													8	77					0	0	1	0	0
TBX22	50945	broad.mit.edu	37	X	79281158	79281158	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:79281158T>A	ENST00000442340.1	+	5	645	c.155T>A	c.(154-156)aTc>aAc	p.I52N	TBX22_ENST00000373291.1_Missense_Mutation_p.I52N|TBX22_ENST00000373294.5_Missense_Mutation_p.I172N|TBX22_ENST00000373296.3_Missense_Mutation_p.I172N	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	172					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CATTTGTGCATCATTCCTAGA	0.498000													11	75					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr19:54754843A>G	ENST00000450632.1	-	13	1869	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607000													4	22					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202723	140202723	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:140202723G>A	ENST00000529859.1	+	1	1363	c.1363G>A	c.(1363-1365)Gcg>Acg	p.A455T	PCDHA5_ENST00000529619.1_Missense_Mutation_p.A455T|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A455T|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGCGTTCGCGCAGCCCCA	0.677000													29	61					0	0	1	0	0
FGD1	2245	broad.mit.edu	37	X	54476096	54476096	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:54476096G>A	ENST00000375135.3	-	14	2877	c.2144C>T	c.(2143-2145)tCt>tTt	p.S715F		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	715					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCTTACTGGAGAGTTGGGTGG	0.532000													13	120					0	0	1	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140730444	140730444	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:140730444G>A	ENST00000523390.1	+	1	617	c.617G>A	c.(616-618)cGc>cAc	p.R206H	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTCTCATCGCTTAATCCTG	0.493000													32	28					0	0	1	0	0
MRPL17	63875	broad.mit.edu	37	11	6704513	6704513	+	Silent	SNP	G	G	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:6704513G>C	ENST00000288937.6	-	1	119	c.15C>G	c.(13-15)gtC>gtG	p.V5V		NM_022061.3	NP_071344.1	Q9NRX2	RM17_HUMAN	mitochondrial ribosomal protein L17	5					translation	ribosome	protein domain specific binding|structural constituent of ribosome			lung(4)	4		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCGCTGCAGCGACCGACAGCC	0.632000											OREG0020719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	11					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411278	126411278	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr4:126411278C>T	ENST00000394329.3	+	17	13314	c.13301C>T	c.(13300-13302)cCg>cTg	p.P4434L	FAT4_ENST00000335110.5_Missense_Mutation_p.P2675L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4434	EGF-like 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCCTCCCACCCGTGCCAGAAT	0.607000													45	36					0	0	1	0	0
RNPS1	10921	broad.mit.edu	37	16	2314602	2314602	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:2314602T>C	ENST00000565678.1	-	2	588	c.43A>G	c.(43-45)Aaa>Gaa	p.K15E	RNPS1_ENST00000567147.1_Intron|RNPS1_ENST00000561718.1_Intron|RNPS1_ENST00000397086.2_Missense_Mutation_p.K15E|RNPS1_ENST00000320225.5_Missense_Mutation_p.K15E|RNPS1_ENST00000301730.8_Missense_Mutation_p.K15E|RNPS1_ENST00000566458.1_Intron|RNPS1_ENST00000568631.1_Missense_Mutation_p.K15E|RNPS1_ENST00000569598.2_Missense_Mutation_p.K15E			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	15	Lys-rich.|Necessary for interaction with SRP54, nuclear localization and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						TTATTTTCTTTGACTCCTAGC	0.443000													32	41					0	0	1	0	0
SENP2	59343	broad.mit.edu	37	3	185347618	185347618	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr3:185347618C>T	ENST00000296257.5	+	17	1996	c.1756C>T	c.(1756-1758)Cag>Tag	p.Q586*	SENP2_ENST00000545472.1_Nonsense_Mutation_p.Q576*|SENP2_ENST00000427465.2_Nonsense_Mutation_p.Q410*	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	586					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			AATCCTTCATCAGCAGTTGCT	0.468000													14	80					0	0	1	0	0
PDCL3	79031	broad.mit.edu	37	2	101186128	101186128	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr2:101186128G>C	ENST00000264254.6	+	4	691	c.313G>C	c.(313-315)Gaa>Caa	p.E105Q		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	105					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						TTATGTTCAAGAAGTTACCAA	0.428000													6	77					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31091299	31091299	+	Silent	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:31091299C>T	ENST00000394979.2	+	1	4077	c.3654C>T	c.(3652-3654)ctC>ctT	p.L1218L	ZNF646_ENST00000300850.5_Silent_p.L1218L			O15015	ZN646_HUMAN	zinc finger protein 646	1218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCGGCAGCCTCATCAACCACC	0.637000													12	23					0	0	1	0	0
NKX6-1	4825	broad.mit.edu	37	4	85419045	85419045	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr4:85419045C>T	ENST00000295886.4	-	1	558	c.337G>A	c.(337-339)Gcc>Acc	p.A113T		NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	113	Repressor domain (By similarity).				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		gGCAGGGCGGCCCCCGAGGCC	0.751000													2	0					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179730517	179730517	+	Missense_Mutation	SNP	C	C	T	rs139607358	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr2:179730517C>T	ENST00000420890.2	-	17	2818	c.2701G>A	c.(2701-2703)Gcc>Acc	p.A901T	CCDC141_ENST00000295723.5_Missense_Mutation_p.A326T	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	326							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCTCTCATGGCGCAGTACTCC	0.532000													43	197					0	0	1	0	0
TCEAL6	158931	broad.mit.edu	37	X	101396190	101396190	+	Silent	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:101396190C>T	ENST00000372774.3	-	3	363	c.114G>A	c.(112-114)gcG>gcA	p.A38A	TCEAL6_ENST00000372773.1_Silent_p.A38A	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	38	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						tcttcccctccgcgtctggct	0.498000													12	77					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25468205	25468205	+	RNA	SNP	G	G	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr15:25468205G>C	ENST00000453082.2	+	0	753					NR_003343.1																						TGTGCCCCCAGATGGTGAGAC	0.592000													13	9					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16203028	16203028	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:16203028C>T	ENST00000375759.3	+	3	940	c.736C>T	c.(736-738)Cat>Tat	p.H246Y	SPEN_ENST00000471538.1_3'UTR	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	246	Arg-rich.|Ser-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCGGTCACCACATTCATCCCA	0.542000													39	35					0	0	1	0	0
PVRL3	25945	broad.mit.edu	37	3	110830979	110830979	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr3:110830979A>G	ENST00000485303.1	+	2	538	c.263A>G	c.(262-264)cAg>cGg	p.Q88R	PVRL3_ENST00000493615.1_Missense_Mutation_p.Q65R|PVRL3_ENST00000488016.1_3'UTR|PVRL3_ENST00000319792.3_Missense_Mutation_p.Q88R	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	88	Ig-like V-type.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						ACCATAACACAGATTTCATGG	0.403000													6	93					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176523713	176523713	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:176523713G>A	ENST00000292408.4	+	16	2369	c.2124G>A	c.(2122-2124)atG>atA	p.M708I	FGFR4_ENST00000292410.3_Missense_Mutation_p.M668I|FGFR4_ENST00000502906.1_Missense_Mutation_p.M708I|FGFR4_ENST00000393648.2_Missense_Mutation_p.M640I|FGFR4_ENST00000393637.1_Missense_Mutation_p.M668I	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	708	Protein kinase.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GACATCGGATGGACCGACCCC	0.657000										TSP Lung(9;0.080)			4	17					0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25262744	25262744	+	Silent	SNP	G	G	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr20:25262744G>T	ENST00000216962.4	+	12	1589	c.1479G>T	c.(1477-1479)ctG>ctT	p.L493L		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	493					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	GCCGGTGGCTGCTGCTGTGCA	0.592000													25	30					7.07758e-08	7.32333e-08	1	1	0
CNN3	1266	broad.mit.edu	37	1	95367290	95367290	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:95367290C>G	ENST00000370206.4	-	5	819	c.436G>C	c.(436-438)Gaa>Caa	p.E146Q	CNN3_ENST00000545882.1_Missense_Mutation_p.E105Q|CNN3_ENST00000394202.4_Missense_Mutation_p.E100Q|CNN3_ENST00000487539.1_5'UTR|CNN3_ENST00000538964.1_Missense_Mutation_p.E146Q	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	146					actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		GTTTGTTTTTCTGCATACTTA	0.363000													9	33					0	0	1	0	0
GRHL3	57822	broad.mit.edu	37	1	24663602	24663602	+	Missense_Mutation	SNP	C	C	T	rs149044763	by1000genomes	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:24663602C>T	ENST00000361548.4	+	5	877	c.647C>T	c.(646-648)cCg>cTg	p.P216L	GRHL3_ENST00000236255.4_Missense_Mutation_p.P221L|GRHL3_ENST00000356046.2_Missense_Mutation_p.P170L|GRHL3_ENST00000350501.5_Missense_Mutation_p.P216L|GRHL3_ENST00000342072.4_Missense_Mutation_p.P123L	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	216					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		AAAACCTCCCCGGAACCCCCA	0.567000													8	27					0	0	1	0	0
TFAP2E	339488	broad.mit.edu	37	1	36060122	36060122	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:36060122G>T	ENST00000373235.3	+	7	1382	c.1174G>T	c.(1174-1176)Ggc>Tgc	p.G392C		NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)	392	H-S-H (helix-span-helix), dimerization.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CATCACCCATGGCTTCGGTGG	0.587000													35	44					4.11147e-13	4.50448e-13	1	1	0
FOCAD	54914	broad.mit.edu	37	9	20981650	20981650	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:20981650G>A	ENST00000380249.1	+	40	4967	c.4603G>A	c.(4603-4605)Ggg>Agg	p.G1535R	FOCAD_ENST00000605086.1_Missense_Mutation_p.G971R|FOCAD_ENST00000338382.6_Missense_Mutation_p.G1535R	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1535						integral to membrane	binding										TGAAGCTACTGGGAAAATTTT	0.463000													13	43					0	0	1	0	0
CLCC1	23155	broad.mit.edu	37	1	109479802	109479803	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:109479802_109479803delTC	ENST00000369971.2	-	10	1408_1409	c.1279_1280delGA	c.(1279-1281)tfs	p.D427fs	CLCC1_ENST00000348264.2_Frame_Shift_Del_p.D242fs|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000356970.2_Frame_Shift_Del_p.D427fs|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369970.3_Frame_Shift_Del_p.D377fs|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000302500.4_Frame_Shift_Del_p.D306fs|CLCC1_ENST00000369968.2_Frame_Shift_Del_p.D242fs|CLCC1_ENST00000415331.1_Frame_Shift_Del_p.D377fs|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.D306fs	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	427						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CAAGTCAACATCTCTCTCTCTC	0.520													33	68	---	---	---	---					
RBM5	10181	broad.mit.edu	37	3	50144226	50144227	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr3:50144226_50144227delAC	ENST00000347869.3	+	11	1057_1058	c.882_883delAC	c.(880-885)ttagfs	p.LQ294fs		NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	294	RRM 2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTCAGATATTACAGAGTCTCCA	0.396													32	19	---	---	---	---					
TP63	8626	broad.mit.edu	37	3	189526228	189526229	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr3:189526228_189526229insA	ENST00000264731.3	+	4	581_582	c.492_493insA	c.(490-495)gctcccfs	p.P165fs	TP63_ENST00000354600.5_Frame_Shift_Ins_p.P71fs|TP63_ENST00000440651.2_Frame_Shift_Ins_p.P165fs|TP63_ENST00000392463.2_Frame_Shift_Ins_p.P71fs|TP63_ENST00000418709.2_Frame_Shift_Ins_p.P165fs|TP63_ENST00000437221.1_Frame_Shift_Ins_p.P71fs|TP63_ENST00000449992.1_Intron|TP63_ENST00000382063.4_Intron|TP63_ENST00000456148.1_Frame_Shift_Ins_p.P71fs|TP63_ENST00000320472.5_Frame_Shift_Ins_p.P165fs|TP63_ENST00000392461.3_Frame_Shift_Ins_p.P71fs|TP63_ENST00000392460.3_Frame_Shift_Ins_p.P165fs	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	165					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CATCACCCGCCATCCCCTCCAA	0.644										HNSCC(45;0.13)			54	67	---	---	---	---					
AC226119.5	0	broad.mit.edu	37	4	3951121	3951122	+	RNA	INS	-	-	TGTC	rs35568143		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr4:3951121_3951122insTGTC	ENST00000281228.8	-	0	344				FAM86EP_ENST00000313946.8_RNA																							cgttttcACTTTGTGCAGGAAG	0.515													5	9	---	---	---	---					
SLC17A2	10246	broad.mit.edu	37	6	25921520	25921520	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr6:25921520delT	ENST00000377850.3	-	4	885	c.361delA	c.(361-363)tgfs	p.M121fs	SLC17A2_ENST00000265425.3_Frame_Shift_Del_p.M121fs|SLC17A2_ENST00000360488.3_Frame_Shift_Del_p.M121fs			O00624	NPT3_HUMAN	solute carrier family 17, member 2	121					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.M121fs*7(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GCACCAAGCATTTTTTTTGCT	0.453													7	76	---	---	---	---					
TRGC2	6967	broad.mit.edu	37	7	38284884	38284885	+	RNA	INS	-	-	GG	rs138091320	by1000genomes	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr7:38284884_38284885insGG	ENST00000436911.2	-	0	330																											TTATTTGTCAAGgtgtgtgtgt	0.391													19	53	---	---	---	---					
PCSK5	5125	broad.mit.edu	37	9	78855573	78855575	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:78855573_78855575delGAA	ENST00000545128.1	+	24	3653_3655	c.3115_3117delGAA	c.(3115-3117)del	p.E1040del		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	742					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGTCCCTTGTGAAGAAGGATGTC	0.429													2	4	---	---	---	---					
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cca>c	p.PPT469del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	469	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573													4	2	---	---	---	---					
ATN1	1822	broad.mit.edu	37	12	7045880	7045885	+	In_Frame_Del	DEL	CAGCAA	CAGCAA	-			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:7045880_7045885delCAGCAA	ENST00000356654.4	+	5	1687_1692	c.1450_1455delCAGCAA	c.(1450-1455)del	p.QQ500del	ATN1_ENST00000396684.2_In_Frame_Del_p.QQ500del	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	500	Poly-Gln.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCATCACCACcagcaacagcaacagc	0.626													30	316	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	RNA	INS	-	-	C	rs36063533		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													7	25	---	---	---	---					
CFAP54	144535	broad.mit.edu	37	12	97043730	97043733	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:97043730_97043733delACAA	ENST00000524981.3	+	2	105_108	c.105_108delACAA	c.(103-108)acfs	p.TQ35fs				Q6ZTY8	CL063_HUMAN		9										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TGTCCAAGACACAAACAGTTTATG	0.299													23	37	---	---	---	---					
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													5	9	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20138373	20138374	+	RNA	INS	-	-	AAG	rs150133272		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr14:20138373_20138374insAAG	ENST00000548261.1	+	0	391																											GAAACAaaagaaagaaagaaag	0.396													7	7	---	---	---	---					
AJUBA	84962	broad.mit.edu	37	14	23447637	23447651	+	In_Frame_Del	DEL	TGCACTTGATACAGG	TGCACTTGATACAGG	-			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr14:23447637_23447651delTGCACTTGATACAGG	ENST00000262713.2	-	2	1385_1399	c.1010_1024delCCTGTATCAAGTGCA	c.(1009-1026)aac>a	p.TCIKCN337del	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_In_Frame_Del_p.TCIKCN337del	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	337	LIM zinc-binding 1.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										ATGCCTTTGTTGCACTTGATACAGGTGCCTGAGAA	0.540													43	51	---	---	---	---					
TMEM30B	161291	broad.mit.edu	37	14	61747707	61747708	+	In_Frame_Ins	INS	-	-	AGGCCC	rs11538992		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr14:61747707_61747708insAGGCCC	ENST00000555868.1	-	1	850_851	c.158_159insGGGCCT	c.(157-159)cta>cGGGCCTta	p.52_53insRA	TMEM30B_ENST00000355702.2_In_Frame_Ins_p.52_53insRA|TMEM30B_ENST00000557163.1_Intron	NM_001017970.2	NP_001017970.1	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	52						integral to membrane				breast(2)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)		AGGAGTAGTAGAGGCCCAGGCC	0.703													2	4	---	---	---	---					
IMP3	55272	broad.mit.edu	37	15	75932053	75932054	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr15:75932053_75932054insGC	ENST00000314852.2	-	2	1399_1400	c.456_457insGC	c.(454-459)cggcatfs	p.H153fs	IMP3_ENST00000403490.1_Frame_Shift_Ins_p.H153fs			Q9NV31	IMP3_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)	153	S4 RNA-binding.				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding|rRNA binding			large_intestine(1)	1						TCCTCCATGCTGCGCGTGACAA	0.609													31	70	---	---	---	---					
ASXL1	171023	broad.mit.edu	37	20	31022441	31022442	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr20:31022441_31022442insG	ENST00000375687.4	+	13	2350_2351	c.1926_1927insG	c.(1924-1929)ggggggfs	p.GG642fs	ASXL1_ENST00000306058.5_Frame_Shift_Ins_p.GG637fs	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	642	Gly-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.G643fs*15(5)|p.A640fs*14(2)|p.T639_G659>PPWD(1)|p.A637fs*13(1)|p.A640_S664>PCSGG(1)|p.T639fs*14(1)|p.T639fs*19(1)|p.T639_P647>PPSDGS(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTGCCATCGGAGGGGGGGGTGG	0.693			"""F, N, Mis"""		"""MDS, CMML"""								13	23	---	---	---	---					
RGAG1	57529	broad.mit.edu	37	X	109694331	109694332	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:109694331_109694332delAG	ENST00000465301.2	+	3	732_733	c.486_487delAG	c.(484-489)gcagfs	p.AE162fs	RGAG1_ENST00000540313.1_Frame_Shift_Del_p.AE162fs	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	162										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CAGATTCTGCAGAGATATCACC	0.480													23	172	---	---	---	---					
