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
OLFML2B	25903	broad.mit.edu	37	1	161953940	161953940	+	Missense_Mutation	SNP	C	C	T	rs148462010		TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr1:161953940C>T	ENST00000294794.3	-	8	2201	c.1778G>A	c.(1777-1779)cGc>cAc	p.R593H	OLFML2B_ENST00000367938.1_Missense_Mutation_p.R76H|OLFML2B_ENST00000367940.2_Missense_Mutation_p.R594H	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	593	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			AGCCACGTAGCGCTGCTTCAG	0.612000													13	54					0	0	0.479597	0	0
ZNF645	158506	broad.mit.edu	37	X	22291956	22291956	+	Missense_Mutation	SNP	C	C	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chrX:22291956C>T	ENST00000323684.1	+	1	892	c.848C>T	c.(847-849)gCg>gTg	p.A283V		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	283	Pro-rich.					intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						CAGCATTATGCGCCACCTCCA	0.478000													49	159					0	0	0.870114	0	0
ZNF331	55422	broad.mit.edu	37	19	54080056	54080056	+	Missense_Mutation	SNP	G	G	A	rs142196434		TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr19:54080056G>A	ENST00000253144.9	+	7	1575	c.242G>A	c.(241-243)cGt>cAt	p.R81H	ZNF331_ENST00000411977.2_Missense_Mutation_p.R81H|ZNF331_ENST00000449416.1_Missense_Mutation_p.R81H|ZNF331_ENST00000511154.1_Missense_Mutation_p.R81H|ZNF331_ENST00000513265.1_Missense_Mutation_p.R81H|ZNF331_ENST00000512387.1_Missense_Mutation_p.R81H|ZNF331_ENST00000511593.2_Missense_Mutation_p.R81H|ZNF331_ENST00000513999.1_Missense_Mutation_p.R81H	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TCCCTTGGCCGTAACTGGATA	0.393000			T	?	follicular thyroid adenoma								3	52					0	0	0.150653	0	0
SMAD4	4089	broad.mit.edu	37	18	48584593	48584593	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr18:48584593C>T	ENST00000342988.3	+	6	1304	c.766C>T	c.(766-768)Cag>Tag	p.Q256*	SMAD4_ENST00000588745.1_Intron|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q256*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	256					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.Q256*(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		ATTTACTGGTCAGCCAGCTAC	0.428000													4	48					0	0	0.150653	0	0
NUP210L	91181	broad.mit.edu	37	1	153973372	153973372	+	Silent	SNP	C	C	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr1:153973372C>T	ENST00000368559.3	-	37	5417	c.5346G>A	c.(5344-5346)gaG>gaA	p.E1782E	NUP210L_ENST00000368553.1_Intron|NUP210L_ENST00000271854.3_Intron	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1782						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTACCACTGCCTCACTTTGAC	0.403000													14	210					0	0	0.457914	0	0
FRG1B	284802	broad.mit.edu	37	20	29625947	29625947	+	Missense_Mutation	SNP	T	T	C			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr20:29625947T>C	ENST00000278882.3	+	5	571	c.191T>C	c.(190-192)aTt>aCt	p.I64T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T														p.I64T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCAGATGCAATTGGACCAAGA	0.343000													5	135					0	0	0.184627	0	0
RAF1	5894	broad.mit.edu	37	3	12626023	12626023	+	Missense_Mutation	SNP	G	G	A			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr3:12626023G>A	ENST00000251849.4	-	17	2376	c.1937C>T	c.(1936-1938)cCt>cTt	p.P646L	RAF1_ENST00000442415.2_Missense_Mutation_p.P666L|RAF1_ENST00000542177.1_Missense_Mutation_p.P565L|RAF1_ENST00000534997.1_Missense_Mutation_p.P431L	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	646					activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	CTAGAAGACAGGCAGCCTCGG	0.582000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				22	81					0	0	0.654019	0	0
ZNFX1	57169	broad.mit.edu	37	20	47887190	47887190	+	Missense_Mutation	SNP	C	C	G			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr20:47887190C>G	ENST00000396105.1	-	3	1405	c.1159G>C	c.(1159-1161)Ggt>Cgt	p.G387R	ZNFX1_ENST00000371754.4_Missense_Mutation_p.G387R|ZNFX1_ENST00000371752.1_Missense_Mutation_p.G387R	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	387							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)			TCCAAAATACCTTCCCGTAAA	0.463000													18	88					0	0	0.520397	0	0
SPATA20	64847	broad.mit.edu	37	17	48626442	48626442	+	Missense_Mutation	SNP	G	G	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr17:48626442G>T	ENST00000006658.6	+	6	675	c.555G>T	c.(553-555)tgG>tgT	p.W185C	SPATA20_ENST00000393244.3_Missense_Mutation_p.W125C|SPATA20_ENST00000356488.4_Missense_Mutation_p.W169C|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	169					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TGAATGTGTGGCTGACTCCCA	0.642000													14	69					1.05317e-09	1.2021e-09	0.457914	1	0
BCRP7	100133163	broad.mit.edu	37	22	18846113	18846113	+	RNA	SNP	C	C	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr22:18846113C>T	ENST00000412938.1	+	0	3471																											ATCTCCTCCACGCACTGGCGC	0.612000													3	53					0	0	0.115264	0	0
TCERG1	10915	broad.mit.edu	37	5	145849135	145849135	+	Silent	SNP	C	C	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr5:145849135C>T	ENST00000296702.5	+	7	1265	c.1227C>T	c.(1225-1227)atC>atT	p.I409I	TCERG1_ENST00000394421.2_Silent_p.I388I	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	409					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCTCCTATCGTACCCATGA	0.388000													98	305					0	0	0.870114	0	0
OR51F2	119694	broad.mit.edu	37	11	4843482	4843482	+	Silent	SNP	C	C	A			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr11:4843482C>A	ENST00000322110.5	+	1	932	c.867C>A	c.(865-867)atC>atA	p.I289I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCACATCATCATGGCCAATG	0.433000													7	123					0.0381472	0.0395471	0.278610	1	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	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													5	48					0	0	0.184627	0	0
PPARD	5467	broad.mit.edu	37	6	35392297	35392297	+	Silent	SNP	C	C	G			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr6:35392297C>G	ENST00000311565.4	+	8	1168	c.819C>G	c.(817-819)ctC>ctG	p.L273L	PPARD_ENST00000337400.2_Silent_p.L273L|PPARD_ENST00000418635.2_Silent_p.L175L|PPARD_ENST00000360694.3_Silent_p.L273L|PPARD_ENST00000540939.1_Silent_p.L170L|PPARD_ENST00000444397.1_Silent_p.L273L|PPARD_ENST00000448077.2_Silent_p.L234L	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	273	Ligand-binding.				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	TCAGCAGCCTCTTCCTCAACG	0.592000													4	64					0	0	0.184627	0	0
ADCY8	114	broad.mit.edu	37	8	131797655	131797655	+	Missense_Mutation	SNP	C	C	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr8:131797655C>T	ENST00000286355.5	-	16	5219	c.3127G>A	c.(3127-3129)Gtg>Atg	p.V1043M	ADCY8_ENST00000377928.3_Missense_Mutation_p.V912M	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1043					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGGCCTGACACGGCCATGTAG	0.502000										HNSCC(32;0.087)			9	67					0	0	0.335167	0	0
SLC38A6	145389	broad.mit.edu	37	14	61518549	61518549	+	Missense_Mutation	SNP	C	C	A			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr14:61518549C>A	ENST00000354886.2	+	14	1259	c.1095C>A	c.(1093-1095)ttC>ttA	p.F365L	SLC38A6_ENST00000267488.4_Missense_Mutation_p.F365L|SLC38A6_ENST00000456840.2_Missense_Mutation_p.F342L	NM_001172702.1	NP_001166173.1	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	365					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		ATTTTCCATTCTCATGGATTC	0.328000													14	63					0.0202918	0.0212312	0.457914	1	0
PI4K2A	55361	broad.mit.edu	37	10	99433441	99433441	+	Missense_Mutation	SNP	C	C	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr10:99433441C>T	ENST00000370631.3	+	9	1439	c.1382C>T	c.(1381-1383)tCt>tTt	p.S461F	PI4K2A_ENST00000370649.3_Missense_Mutation_p.S431F|PI4K2A_ENST00000555577.1_Missense_Mutation_p.S431F	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	461					phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		CAGCGGTCTTCTAGCGAGTCC	0.547000													5	186					0	0	0.184627	0	0
CUBN	8029	broad.mit.edu	37	10	17087977	17087977	+	Missense_Mutation	SNP	T	T	C			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr10:17087977T>C	ENST00000377833.4	-	24	3511	c.3446A>G	c.(3445-3447)gAc>gGc	p.D1149G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1149	CUB 6.				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)	AGACCTTGTGTCTATTTGGTC	0.388000													25	114					0	0	0.667858	0	0
DENND2A	27147	broad.mit.edu	37	7	140227117	140227117	+	Splice_Site	SNP	C	C	A			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr7:140227117C>A	ENST00000275884.6	-	14	2923		c.e14+1		DENND2A_ENST00000496613.1_Splice_Site|DENND2A_ENST00000537639.1_Splice_Site			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A											breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TGGGAGCTCACCTCTTCCAGC	0.677000													3	10					0.150653	0.153368	0.150653	1	0
WDR44	54521	broad.mit.edu	37	X	117526804	117526804	+	Silent	SNP	G	G	A			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chrX:117526804G>A	ENST00000254029.3	+	4	791	c.396G>A	c.(394-396)gaG>gaA	p.E132E	WDR44_ENST00000371822.5_Silent_p.E107E|WDR44_ENST00000371825.3_Silent_p.E132E|WDR44_ENST00000493448.1_3'UTR	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	132	Binding activity.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CATTTGAAGAGACTGAATTAG	0.398000													57	152					0	0	0.870114	0	0
RPE	6120	broad.mit.edu	37	2	210867501	210867501	+	Translation_Start_Site	SNP	T	T	G			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr2:210867501T>G	ENST00000429921.1	+	0	150				RPE_ENST00000452025.1_Missense_Mutation_p.M39R|RPE_ENST00000445268.1_De_novo_Start_OutOfFrame|RPE_ENST00000436630.2_De_novo_Start_InFrame|RPE_ENST00000438204.2_De_novo_Start_OutOfFrame|RPE_ENST00000435437.2_Missense_Mutation_p.M39R|RPE_ENST00000429907.1_De_novo_Start_InFrame|RPE_ENST00000411934.2_Intron|RPE_ENST00000540255.1_Missense_Mutation_p.M39R|RPE_ENST00000354506.6_Missense_Mutation_p.M39R|RPE_ENST00000454822.1_De_novo_Start_OutOfFrame|RPE_ENST00000359429.6_Missense_Mutation_p.M39R	NM_001278282.1|NM_001278283.1	NP_001265211.1|NP_001265212.1	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase						pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		CTGGACGTAATGGACGGGTAA	0.612000													28	149					0	0	0.750413	0	0
SCN3B	55800	broad.mit.edu	37	11	123508977	123508977	+	Silent	SNP	G	G	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr11:123508977G>T	ENST00000392770.2	-	4	1303	c.501C>A	c.(499-501)gtC>gtA	p.V167V	SCN3B_ENST00000530277.1_Silent_p.V167V|SCN3B_ENST00000299333.3_Silent_p.V167V	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	167					axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		AGGTGAGGAAGACCAGAAGGA	0.463000													6	56					8.12818e-05	8.83158e-05	0.248553	1	0
CHRNE	1145	broad.mit.edu	37	17	4802325	4802325	+	Missense_Mutation	SNP	T	T	G			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr17:4802325T>G	ENST00000293780.4	-	11	1307	c.1297A>C	c.(1297-1299)Agc>Cgc	p.S433R		NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	433					muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						TCTCTCGTGCTCTCGGCCACG	0.701000													3	16					0	0	0.150653	0	0
PKD1L2	114780	broad.mit.edu	37	16	81187676	81187676	+	RNA	SNP	C	C	T	rs148002235	by1000genomes	TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr16:81187676C>T	ENST00000525539.1	-	0	4295				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCTCAAAAACCGGAGTGTCGG	0.607000													6	22					0	0	0.217242	0	0
SLC22A7	10864	broad.mit.edu	37	6	43266262	43266262	+	Missense_Mutation	SNP	G	G	A			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr6:43266262G>A	ENST00000372585.5	+	1	261	c.166G>A	c.(166-168)Gcc>Acc	p.A56T	SLC22A7_ENST00000372574.3_Missense_Mutation_p.A56T|SLC22A7_ENST00000487175.1_Intron|SLC22A7_ENST00000372589.3_Missense_Mutation_p.A56T	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	56						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GGGTGCCCCTGCCAACTTCAG	0.662000													26	100					0	0	0.717897	0	0
CWC22	57703	broad.mit.edu	37	2	180815274	180815274	+	Missense_Mutation	SNP	T	T	C			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr2:180815274T>C	ENST00000410053.3	-	19	2404	c.2105A>G	c.(2104-2106)gAc>gGc	p.D702G	CWC22_ENST00000295749.6_Missense_Mutation_p.D702G	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	702	Ser-rich.					catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						GGATGAAGAGTCGCTCTCTTC	0.428000													7	28					0	0	0.278610	0	0
MYT1	4661	broad.mit.edu	37	20	62839353	62839353	+	Silent	SNP	A	A	G			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr20:62839353A>G	ENST00000536311.1	+	7	1168	c.804A>G	c.(802-804)gaA>gaG	p.E268E	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.E268E			Q01538	MYT1_HUMAN	myelin transcription factor 1	268	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E268E(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaagaggaggagg	0.572000													3	17					0	0	0.150653	0	0
TRMT6	51605	broad.mit.edu	37	20	5923132	5923132	+	Missense_Mutation	SNP	G	G	A			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr20:5923132G>A	ENST00000203001.2	-	7	1098	c.968C>T	c.(967-969)aCa>aTa	p.T323I	TRMT6_ENST00000453074.2_Missense_Mutation_p.T153I|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	323					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						TTGAGAAATTGTTTCCATTGT	0.478000													16	65					0	0	0.575678	0	0
HNRNPAB	3182	broad.mit.edu	37	5	177633752	177633752	+	Missense_Mutation	SNP	A	A	G			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr5:177633752A>G	ENST00000358344.3	+	4	655	c.398A>G	c.(397-399)cAc>cGc	p.H133R	HNRNPAB_ENST00000506259.1_Missense_Mutation_p.H133R|HNRNPAB_ENST00000514633.1_Missense_Mutation_p.H133R|HNRNPAB_ENST00000515193.1_Missense_Mutation_p.H133R|HNRNPAB_ENST00000355836.5_Missense_Mutation_p.H133R|HNRNPAB_ENST00000504898.1_Missense_Mutation_p.H133R|HNRNPAB_ENST00000506339.1_Missense_Mutation_p.H133R	NM_031266.2	NP_112556.2	Q99729	ROAA_HUMAN	heterogeneous nuclear ribonucleoprotein A/B	132	RRM 1.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			large_intestine(4)|prostate(1)|urinary_tract(1)	6						CAGAAGGAGCACAGGCTGGAT	0.532000													53	178					0	0	0.870114	0	0
STAB1	23166	broad.mit.edu	37	3	52544403	52544403	+	Silent	SNP	C	C	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr3:52544403C>T	ENST00000321725.6	+	25	2743	c.2667C>T	c.(2665-2667)tgC>tgT	p.C889C		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	889	EGF-like 7.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCCACCACTGCACATGCCACA	0.597000													17	70					0	0	0.575678	0	0
AQP5	362	broad.mit.edu	37	12	50355845	50355845	+	Silent	SNP	C	C	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr12:50355845C>T	ENST00000293599.6	+	1	193	c.45C>T	c.(43-45)ttC>ttT	p.F15F	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550214.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	15					carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity			large_intestine(1)|lung(3)	4						AGGCCGTGTTCGCAGAGTTCT	0.697000													3	30					0	0	0.115264	0	0
WNK1	65125	broad.mit.edu	37	12	990073	990073	+	Missense_Mutation	SNP	A	A	G			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr12:990073A>G	ENST00000537687.1	+	12	4442	c.3799A>G	c.(3799-3801)Atg>Gtg	p.M1267V	WNK1_ENST00000315939.6_Missense_Mutation_p.M1007V|WNK1_ENST00000530271.2_Missense_Mutation_p.M1505V|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Missense_Mutation_p.M600V	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1007					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TTTAGTTCCTATGGGTGGTGT	0.512000													24	135					0	0	0.624587	0	0
EPHA10	284656	broad.mit.edu	37	1	38197242	38197242	+	Missense_Mutation	SNP	G	G	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr1:38197242G>T	ENST00000373048.4	-	7	1503	c.1504C>A	c.(1504-1506)Cag>Aag	p.Q502K	EPHA10_ENST00000540011.1_5'UTR|EPHA10_ENST00000330210.7_5'UTR|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.Q502K	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	502	Fibronectin type-III 2.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGTAAGTCTGCTCACTCTGA	0.592000													6	176					8.12818e-05	8.83158e-05	0.248553	1	0
SAP18	10284	broad.mit.edu	37	13	21721420	21721420	+	Missense_Mutation	SNP	A	A	G			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr13:21721420A>G	ENST00000382533.4	+	4	497	c.458A>G	c.(457-459)gAc>gGc	p.D153G	SAP18_ENST00000607003.1_Missense_Mutation_p.D134G	NM_005870.4	NP_005861.2	O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa	134					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|plasma membrane	protein binding|transcription corepressor activity			kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		GATTACTTGGACATAGCAATT	0.443000													46	181					0	0	0.870114	0	0
PRPF6	24148	broad.mit.edu	37	20	62642703	62642703	+	Silent	SNP	G	G	C			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr20:62642703G>C	ENST00000535781.1	+	11	1482	c.1371G>C	c.(1369-1371)cgG>cgC	p.R457R	ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	457					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					ACAAGGCGCGGGAGAACATTC	0.547000													35	104					0	0	0.804634	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	by1000genomes	TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr16:90161578G>A	ENST00000567960.1	+	0	314				TUBB8P7_ENST00000564451.1_RNA														p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587000													4	74					0	0	0.150653	0	0
TBC1D14	57533	broad.mit.edu	37	4	6925380	6925380	+	Missense_Mutation	SNP	G	G	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr4:6925380G>T	ENST00000409757.4	+	2	388	c.264G>T	c.(262-264)agG>agT	p.R88S	TBC1D14_ENST00000448507.1_Missense_Mutation_p.R88S	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	88						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						ACGTGAGGAGGAAGCAGTCCG	0.672000													25	103					3.65163e-15	4.25396e-15	0.706142	1	0
STYXL1	51657	broad.mit.edu	37	7	75643175	75643175	+	Missense_Mutation	SNP	C	C	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr7:75643175C>T	ENST00000451157.1	-	5	507	c.338G>A	c.(337-339)gGc>gAc	p.G113D	STYXL1_ENST00000359697.3_Missense_Mutation_p.G113D|STYXL1_ENST00000431581.1_Missense_Mutation_p.G113D|STYXL1_ENST00000460184.2_5'UTR|STYXL1_ENST00000340062.5_Intron|STYXL1_ENST00000360591.3_Intron|STYXL1_ENST00000248600.1_Missense_Mutation_p.G113D			Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	113	Rhodanese.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						CAGGATCCTGCCATACTCAAT	0.537000													57	151					0	0	0.870114	0	0
PPP1R9B	84687	broad.mit.edu	37	17	48226726	48226726	+	Missense_Mutation	SNP	C	C	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr17:48226726C>T	ENST00000316878.6	-	3	1149	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	383					cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						GAGAAGTCCTCCTTCTTGGAT	0.687000													8	47					0	0	0.335167	0	0
SSPO	23145	broad.mit.edu	37	7	149490705	149490705	+	RNA	SNP	C	C	G			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr7:149490705C>G	ENST00000378016.2	+	0	6079							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGTGCCCTACCTGGTGAGTG	0.642000													21	61					0	0	0.654019	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25258712	25258712	+	Splice_Site	SNP	C	C	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr16:25258712C>T	ENST00000328086.7	-	5	1609		c.e5-1			NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2						viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		ACTGCACTTCCTACAGTAAAA	0.443000													5	62					0	0	0.184627	0	0
SYT9	143425	broad.mit.edu	37	11	7324582	7324582	+	Missense_Mutation	SNP	G	G	A			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr11:7324582G>A	ENST00000318881.6	+	2	695	c.458G>A	c.(457-459)cGc>cAc	p.R153H	SYT9_ENST00000396716.2_Missense_Mutation_p.R121H	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	153						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CATGGCGTCCGCGTGCAGCGC	0.612000													5	26					0	0	0.248553	0	0
N4BP2	55728	broad.mit.edu	37	4	40115055	40115055	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr4:40115055C>T	ENST00000261435.6	+	7	2007	c.1591C>T	c.(1591-1593)Cag>Tag	p.Q531*		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	531						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TATGTAGTCTCAGAAACACAA	0.313000													17	108					0	0	0.539581	0	0
MIB2	142678	broad.mit.edu	37	1	1559245	1559245	+	Missense_Mutation	SNP	C	C	G			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr1:1559245C>G	ENST00000357210.4	+	4	729	c.513C>G	c.(511-513)gaC>gaG	p.D171E	MIB2_ENST00000512004.1_3'UTR|MIB2_ENST00000504599.1_Missense_Mutation_p.D127E|MIB2_ENST00000378708.1_Missense_Mutation_p.D113E|MIB2_ENST00000378712.1_Missense_Mutation_p.D113E|MIB2_ENST00000360522.4_Missense_Mutation_p.D171E|MIB2_ENST00000505820.2_Missense_Mutation_p.D228E|MIB2_ENST00000520777.1_Missense_Mutation_p.D228E|MIB2_ENST00000518681.1_Missense_Mutation_p.D228E|MIB2_ENST00000378710.3_Missense_Mutation_p.D171E|MIB2_ENST00000355826.5_Missense_Mutation_p.D214E	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	171					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGGACTACGACCTCTGCACGC	0.662000													8	34					0	0	0.335167	0	0
FBN2	2201	broad.mit.edu	37	5	127705028	127705028	+	Splice_Site	SNP	C	C	G			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr5:127705028C>G	ENST00000508053.1	-	22	3070		c.e22-1		FBN2_ENST00000262464.4_Splice_Site|FBN2_ENST00000508989.1_Splice_Site|FBN2_ENST00000511489.1_Splice_Site			P35556	FBN2_HUMAN	fibrillin 2						bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATGTGAGTATCTAAAGGAGAT	0.468000													3	44					0	0	0.115264	0	0
IRF2BPL	64207	broad.mit.edu	37	14	77493096	77493096	+	Missense_Mutation	SNP	T	T	C	rs147723826		TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr14:77493096T>C	ENST00000238647.3	-	1	1938	c.1040A>G	c.(1039-1041)aAg>aGg	p.K347R		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	347						nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GTTGCGCTGCTTCTCCTTCAA	0.677000													10	36					0	0	0.387290	0	0
DNAH14	127602	broad.mit.edu	37	1	225155275	225155275	+	Missense_Mutation	SNP	T	T	A			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr1:225155275T>A	ENST00000430092.1	+	6	856	c.641T>A	c.(640-642)tTt>tAt	p.F214Y	DNAH14_ENST00000400952.3_Missense_Mutation_p.F214Y|DNAH14_ENST00000366850.3_Missense_Mutation_p.F214Y|DNAH14_ENST00000366848.1_Missense_Mutation_p.F214Y|DNAH14_ENST00000366849.1_Intron|DNAH14_ENST00000439375.2_Missense_Mutation_p.F214Y	NM_001373.1	NP_001364.1	Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	341					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						ACTGCTTCATTTATCTCAAAG	0.303000													17	103					0	0	0.575678	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs116382006	by1000genomes	TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA																							TGGGACTGAGAGGCAAGATTT	0.438000													4	83					0	0	0.184627	0	0
IGHG2	3501	broad.mit.edu	37	14	106110218	106110218	+	RNA	SNP	G	G	A			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr14:106110218G>A	ENST00000390545.2	-	0	399																											TCAGGGGTCCGGGAGATCATG	0.602000													8	346					0	0	0.278610	0	0
CA3	761	broad.mit.edu	37	8	86360293	86360293	+	Missense_Mutation	SNP	G	G	A	rs61743815	byFrequency	TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr8:86360293G>A	ENST00000285381.2	+	7	777	c.694G>A	c.(694-696)Gct>Act	p.A232T	RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	232					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCTCTCCAGTGCTGAGAACGA	0.547000													6	36					0	0	0.217242	0	0
ACACA	31	broad.mit.edu	37	17	35631185	35631185	+	Missense_Mutation	SNP	G	G	A			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr17:35631185G>A	ENST00000353139.5	-	9	1388	c.907C>T	c.(907-909)Cgt>Tgt	p.R303C	ACACA_ENST00000394406.2_Missense_Mutation_p.R266C|ACACA_ENST00000360679.3_Missense_Mutation_p.R208C|ACACA_ENST00000335166.5_Missense_Mutation_p.R188C	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	266	ATP-grasp.|Biotin carboxylation.			E -> K (in Ref. 1; AAC50139).	acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CAGTCCACACGAAGACCTGCA	0.388000													4	89					0	0	0.217242	0	0
RBM15	64783	broad.mit.edu	37	1	110884074	110884074	+	Missense_Mutation	SNP	C	C	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr1:110884074C>T	ENST00000369784.3	+	1	2947	c.2047C>T	c.(2047-2049)Cgt>Tgt	p.R683C	RBM15_ENST00000487146.2_Missense_Mutation_p.R683C|RBM15_ENST00000602849.1_Missense_Mutation_p.R683C	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	683	Arg-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TAGCCGGGATCGTTACAACAG	0.537000			T	MKL1	acute megakaryocytic leukemia								10	55					0	0	0.361761	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762947	92762947	+	Missense_Mutation	SNP	G	G	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr7:92762947G>T	ENST00000318238.4	-	5	3554	c.2338C>A	c.(2338-2340)Caa>Aaa	p.Q780K	SAMD9L_ENST00000411955.1_Missense_Mutation_p.Q780K|SAMD9L_ENST00000437805.1_Missense_Mutation_p.Q780K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	780										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGATCACTTGCTCTGCAATT	0.398000													14	157					2.31682e-05	2.59209e-05	0.479597	1	0
LMO7	4008	broad.mit.edu	37	13	76427232	76427232	+	Missense_Mutation	SNP	G	G	A			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr13:76427232G>A	ENST00000357063.3	+	29	5785	c.4525G>A	c.(4525-4527)Gaa>Aaa	p.E1509K	LMO7_ENST00000321797.8_Missense_Mutation_p.E1224K|LMO7_ENST00000341547.4_Missense_Mutation_p.E1175K|LMO7_ENST00000377534.3_Missense_Mutation_p.E1509K|LMO7_ENST00000465261.2_Missense_Mutation_p.E1224K|LMO7_ENST00000526202.1_Missense_Mutation_p.E1101K			Q8WWI1	LMO7_HUMAN	LIM domain 7	1509						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.E1509*(1)|p.E1175*(1)|p.E1224*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTTCAGAGGCGAATCTTTAGA	0.378000													10	54					0	0	0.411799	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043960	71043960	+	Missense_Mutation	SNP	C	C	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr2:71043960C>T	ENST00000272367.2	-	4	629	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	CLEC4F_ENST00000426626.1_Missense_Mutation_p.E185K	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	185					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TCAAGGTCTTCCTTGAGCCTC	0.448000													10	53					0	0	0.335167	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43659419	43659419	+	Missense_Mutation	SNP	G	G	T	rs80035763	byFrequency	TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr10:43659419G>T	ENST00000374466.3	+	5	1421	c.1086G>T	c.(1084-1086)ttG>ttT	p.L362F		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	362					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	p.L362F(5)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAGAGGTCTTGATGTTTTTCT	0.433000													4	97					0.014758	0.0155855	0.184627	1	0
CAMSAP1	157922	broad.mit.edu	37	9	138719300	138719300	+	Silent	SNP	C	C	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr9:138719300C>T	ENST00000389532.4	-	8	1240	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	CAMSAP1_ENST00000312405.6_Silent_p.A114A|CAMSAP1_ENST00000409386.3_Silent_p.A403A	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	392						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GACAGCCTTCCGCCGGCAGCT	0.577000													7	25					0	0	0.307466	0	0
PENK	5179	broad.mit.edu	37	8	57353913	57353913	+	Missense_Mutation	SNP	A	A	G			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr8:57353913A>G	ENST00000314922.3	-	2	798	c.722T>C	c.(721-723)cTg>cCg	p.L241P	PENK_ENST00000451791.2_Missense_Mutation_p.L241P	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	241					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GTCGGAGGGCAGAGCCTCGGC	0.473000													5	91					0	0	0.217242	0	0
PAXIP1	22976	broad.mit.edu	37	7	154738232	154738232	+	Silent	SNP	G	G	C			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr7:154738232G>C	ENST00000404141.1	-	19	3277	c.3123C>G	c.(3121-3123)gcC>gcG	p.A1041A	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Silent_p.A1041A			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	1041	BRCT 6.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CTATGCCTCTGGCAAAATATT	0.413000													16	43					0	0	0.520397	0	0
PAMR1	25891	broad.mit.edu	37	11	35456318	35456318	+	Missense_Mutation	SNP	C	C	A			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr11:35456318C>A	ENST00000378880.2	-	10	1813	c.1368G>T	c.(1366-1368)aaG>aaT	p.K456N	PAMR1_ENST00000278360.3_Missense_Mutation_p.K473N|PAMR1_ENST00000378878.3_Missense_Mutation_p.K345N|PAMR1_ENST00000532848.1_Missense_Mutation_p.K416N	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	456	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						ACCCTTGGGTCTTTGGAGCAG	0.532000													11	136					3.27435e-08	3.70002e-08	0.457914	1	0
CASP8	841	broad.mit.edu	37	2	202137461	202137461	+	Missense_Mutation	SNP	T	T	G			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr2:202137461T>G	ENST00000358485.4	+	4	885	c.689T>G	c.(688-690)cTg>cGg	p.L230R	CASP8_ENST00000323492.7_Missense_Mutation_p.L171R|CASP8_ENST00000392258.3_Missense_Mutation_p.L171R|CASP8_ENST00000392259.2_Missense_Mutation_p.L171R|CASP8_ENST00000392266.3_Missense_Mutation_p.L171R|CASP8_ENST00000264274.9_Missense_Mutation_p.L171R|CASP8_ENST00000264275.5_Missense_Mutation_p.L203R|CASP8_ENST00000432109.2_Missense_Mutation_p.L171R	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	171					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AACAAGAGCCTGCTGAAGATA	0.428000										HNSCC(4;0.00038)			16	211					0	0	0.592651	0	0
OR6F1	343169	broad.mit.edu	37	1	247875281	247875281	+	Silent	SNP	G	G	A			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr1:247875281G>A	ENST00000302084.2	-	1	824	c.777C>T	c.(775-777)caC>caT	p.H259H	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGGTGCGGACGTGAAGGAAAA	0.527000													18	101					0	0	0.539581	0	0
ASTN1	460	broad.mit.edu	37	1	177001612	177001612	+	Missense_Mutation	SNP	G	G	C			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr1:177001612G>C	ENST00000367654.2	-	3	858	c.845C>G	c.(844-846)tCg>tGg	p.S282W	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.S282W|ASTN1_ENST00000424564.2_Missense_Mutation_p.S282W|ASTN1_ENST00000361833.2_Missense_Mutation_p.S282W			O14525	ASTN1_HUMAN	astrotactin 1	282					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTCCATCCCCGACTTTTCATT	0.607000													10	187					0	0	0.387290	0	0
PASD1	139135	broad.mit.edu	37	X	150842555	150842555	+	Missense_Mutation	SNP	G	G	A			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chrX:150842555G>A	ENST00000370357.4	+	15	2317	c.2072G>A	c.(2071-2073)cGg>cAg	p.R691Q		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	691						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GATTACATCCGGCTTTGGCAA	0.512000													7	290					0	0	0.307466	0	0
SKA2	348235	broad.mit.edu	37	17	57232319	57232319	+	Silent	SNP	G	G	A			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr17:57232319G>A	ENST00000580541.1	-	1	226	c.126C>T	c.(124-126)ctC>ctT	p.L42L	SKA2_ENST00000583380.1_Intron|SKA2_ENST00000583927.1_Intron|SKA2_ENST00000581068.1_Intron|SKA2_ENST00000437036.2_Silent_p.L42L|SKA2_ENST00000330137.7_Intron|SKA2_ENST00000578105.1_Intron			Q8WVK7	SKA2_HUMAN	spindle and kinetochore associated complex subunit 2	0					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	p.L42L(2)		lung(4)	4						CCCCTTACCCGAGGCGGTTTA	0.612000													5	175					0	0	0.217242	0	0
SLC6A9	6536	broad.mit.edu	37	1	44463258	44463258	+	Missense_Mutation	SNP	C	C	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr1:44463258C>T	ENST00000372310.3	-	14	2026	c.1861G>A	c.(1861-1863)Ggc>Agc	p.G621S	SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000360584.2_Missense_Mutation_p.G694S|SLC6A9_ENST00000475075.2_Missense_Mutation_p.G510S|SLC6A9_ENST00000357730.2_Missense_Mutation_p.G640S|SLC6A9_ENST00000372306.3_Intron	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	694						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CCATTACTGCCCACAATGGGG	0.682000													28	157					0	0	0.729181	0	0
ANKRD52	283373	broad.mit.edu	37	12	56648430	56648430	+	Missense_Mutation	SNP	G	G	C			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr12:56648430G>C	ENST00000267116.7	-	7	746	c.625C>G	c.(625-627)Ctg>Gtg	p.L209V		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	209							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GTATGGAGCAGCCCATAGCCC	0.572000													7	28					0	0	0.248553	0	0
HR	55806	broad.mit.edu	37	8	21977855	21977855	+	Splice_Site	SNP	G	G	A			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr8:21977855G>A	ENST00000381418.4	-	12	4256	c.2776_splice	c.e12+1	p.L926_splice	HR_ENST00000312841.8_Splice_Site_p.L926_splice	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	926							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGACACTTACGCTCAGGCCAG	0.682000													14	64					0	0	0.592651	0	0
NPY5R	4889	broad.mit.edu	37	4	164271885	164271885	+	Missense_Mutation	SNP	A	A	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr4:164271885A>T	ENST00000515560.1	+	4	1982	c.460A>T	c.(460-462)Aac>Tac	p.N154Y	NPY5R_ENST00000506953.1_Missense_Mutation_p.N154Y|NPY5R_ENST00000338566.3_Missense_Mutation_p.N154Y			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	154					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TTTAACAGCAAACCATGGCTA	0.358000													6	269					0	0	0.217242	0	0
UBE2O	63893	broad.mit.edu	37	17	74394355	74394355	+	Missense_Mutation	SNP	G	G	A			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr17:74394355G>A	ENST00000319380.7	-	12	2070	c.2006C>T	c.(2005-2007)gCt>gTt	p.A669V	UBE2O_ENST00000587581.1_5'UTR	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	669							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CTTGTGAGGAGCCCCATCCTC	0.537000											OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	60	247					0	0	0.870114	0	0
C8A	731	broad.mit.edu	37	1	57341845	57341845	+	Missense_Mutation	SNP	T	T	A			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr1:57341845T>A	ENST00000361249.3	+	4	523	c.427T>A	c.(427-429)Tat>Aat	p.Y143N		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	143	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CTGCAGCCAGTATGAACCAAT	0.507000													7	116					0	0	0.307466	0	0
PRUNE2	158471	broad.mit.edu	37	9	79318530	79318530	+	Missense_Mutation	SNP	C	C	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr9:79318530C>T	ENST00000428286.1	-	9	8122	c.6922G>A	c.(6922-6924)Ggc>Agc	p.G2308S	PRUNE2_ENST00000376718.3_Missense_Mutation_p.G2667S			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2667					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCACCCAAGCCGAGTTCAGAG	0.547000													7	37					0	0	0.307466	0	0
FN3KRP	79672	broad.mit.edu	37	17	80684842	80684842	+	Missense_Mutation	SNP	C	C	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr17:80684842C>T	ENST00000269373.6	+	6	798	c.725C>T	c.(724-726)tCg>tTg	p.S242L	FN3KRP_ENST00000535965.1_Missense_Mutation_p.S192L	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	242							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TACGGCCACTCGGAATATGAG	0.552000													13	81					0	0	0.479597	0	0
ZNF445	353274	broad.mit.edu	37	3	44492401	44492401	+	Missense_Mutation	SNP	C	C	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr3:44492401C>T	ENST00000425708.2	-	4	993	c.652G>A	c.(652-654)Gac>Aac	p.D218N	ZNF445_ENST00000396077.2_Missense_Mutation_p.D218N			P59923	ZN445_HUMAN	zinc finger protein 445	218					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GTTACCTGGTCTCCCGGGCAC	0.592000													4	11					0	0	0.217242	0	0
NR0B1	190	broad.mit.edu	37	X	30327300	30327300	+	Missense_Mutation	SNP	C	C	A			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chrX:30327300C>A	ENST00000378970.4	-	1	415	c.181G>T	c.(181-183)Gcg>Tcg	p.A61S	NR0B1_ENST00000453287.1_Missense_Mutation_p.A61S	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	61	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	TACAGGAGCGCCACGTTCCGC	0.662000													11	27					3.86212e-05	4.27862e-05	0.361761	1	0
FLOT2	2319	broad.mit.edu	37	17	27208843	27208843	+	Silent	SNP	G	G	A			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr17:27208843G>A	ENST00000394906.2	-	10	1145	c.1068C>T	c.(1066-1068)gcC>gcT	p.A356A	FLOT2_ENST00000585169.1_Silent_p.A301A|FLOT2_ENST00000394908.4_Silent_p.A301A|FLOT2_ENST00000577789.1_5'UTR			Q14254	FLOT2_HUMAN	flotillin 2	301					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TTTCACCCTCGGCAATCTGCT	0.637000													12	81					0	0	0.435327	0	0
PTPRT	11122	broad.mit.edu	37	20	40827935	40827935	+	Silent	SNP	G	G	A	rs145661499	by1000genomes	TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr20:40827935G>A	ENST00000373198.3	-	17	2737	c.2502C>T	c.(2500-2502)agC>agT	p.S834S	PTPRT_ENST00000356100.2_Silent_p.S821S|PTPRT_ENST00000373184.1_Silent_p.S802S|PTPRT_ENST00000373187.1_Silent_p.S812S|PTPRT_ENST00000373190.1_Silent_p.S812S|PTPRT_ENST00000373201.1_Silent_p.S802S|PTPRT_ENST00000373193.3_Silent_p.S815S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	812					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.S834R(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGCGGCTGGCGCTGAGCTTGG	0.577000													14	416					0	0	0.500413	0	0
FBXO44	93611	broad.mit.edu	37	1	11716117	11716117	+	Silent	SNP	G	G	A			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr1:11716117G>A	ENST00000376770.1	+	3	723	c.225G>A	c.(223-225)cgG>cgA	p.R75R	FBXO44_ENST00000251547.5_Silent_p.R75R|FBXO44_ENST00000251546.4_Silent_p.R75R|FBXO44_ENST00000376760.1_Silent_p.R75R|FBXO44_ENST00000376762.4_Silent_p.R75R|FBXO44_ENST00000376768.1_Silent_p.R75R	NM_001014765.1	NP_001014765.1	Q9H4M3	FBX44_HUMAN	F-box protein 44	75	FBA.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		ACTTCTTACGGAGCCTGCACA	0.592000													33	145					0	0	0.834066	0	0
TNRC6A	27327	broad.mit.edu	37	16	24800803	24800803	+	Silent	SNP	A	A	G			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr16:24800803A>G	ENST00000395799.3	+	6	969	c.840A>G	c.(838-840)aaA>aaG	p.K280K	TNRC6A_ENST00000315183.7_Silent_p.K280K	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	280	Ser-rich.|Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GTGGTGAAAAAGATGGCCTTC	0.478000													3	98					0	0	0.115264	0	0
ZNF14	7561	broad.mit.edu	37	19	19823380	19823380	+	Missense_Mutation	SNP	G	G	C			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr19:19823380G>C	ENST00000344099.3	-	4	848	c.710C>G	c.(709-711)tCt>tGt	p.S237C		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TCTTTGAAAAGATTGGTAACA	0.363000													11	41					0	0	0.457914	0	0
OR1S1	219959	broad.mit.edu	37	11	57983102	57983102	+	Missense_Mutation	SNP	C	C	G			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr11:57983102C>G	ENST00000309433.6	+	1	886	c.886C>G	c.(886-888)Ccc>Gcc	p.P296A		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TGTGGTGACACCCATGATAAA	0.458000													17	142					0	0	0.557998	0	0
PRDM5	11107	broad.mit.edu	37	4	121706213	121706213	+	Nonsense_Mutation	SNP	C	C	A			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr4:121706213C>A	ENST00000264808.3	-	11	1462	c.1222G>T	c.(1222-1224)Gaa>Taa	p.E408*	PRDM5_ENST00000428209.2_Nonsense_Mutation_p.E377*|PRDM5_ENST00000515109.1_Nonsense_Mutation_p.E377*	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	408					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCTTTACATTCTTCACATTGG	0.423000													13	83					6.72482e-11	7.75413e-11	0.479597	1	0
PCDHB6	56130	broad.mit.edu	37	5	140529911	140529911	+	Missense_Mutation	SNP	G	G	A			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr5:140529911G>A	ENST00000231136.1	+	1	73	c.73G>A	c.(73-75)Gtg>Atg	p.V25M	PCDHB6_ENST00000543635.1_Intron	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		25					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGGGGAGAGGTGGGTTCTGA	0.443000													28	124					0	0	0.760397	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21553927	21553927	+	Missense_Mutation	SNP	G	G	A			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr14:21553927G>A	ENST00000298694.4	+	19	4167	c.4040G>A	c.(4039-4041)cGa>cAa	p.R1347Q	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.R1347Q			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1347	PH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CGGCGTGCACGAGAGGCATAC	0.562000													16	98					0	0	0.539581	0	0
LARP6	55323	broad.mit.edu	37	15	71124557	71124557	+	Missense_Mutation	SNP	C	C	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr15:71124557C>T	ENST00000299213.8	-	3	1380	c.1310G>A	c.(1309-1311)cGc>cAc	p.R437H		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	437					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						CTCGGCTTGGCGACGCCTCCG	0.622000													5	93					0	0	0.217242	0	0
ALLC	55821	broad.mit.edu	37	2	3727515	3727515	+	Missense_Mutation	SNP	G	G	A			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr2:3727515G>A	ENST00000252505.3	+	5	391	c.229G>A	c.(229-231)Gtg>Atg	p.V77M		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	96							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GGGCTTCGACGTGGACGTTTC	0.547000										HNSCC(21;0.051)			17	117					0	0	0.520397	0	0
PBOV1	59351	broad.mit.edu	37	6	138539390	138539390	+	Missense_Mutation	SNP	A	A	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr6:138539390A>T	ENST00000527246.2	-	1	237	c.143T>A	c.(142-144)tTc>tAc	p.F48Y	KIAA1244_ENST00000251691.4_Intron	NM_021635.2	NP_067648.1	Q9GZY1	PBOV1_HUMAN	prostate and breast cancer overexpressed 1	48						cytoplasm|nucleus				endometrium(1)	1	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00055)|GBM - Glioblastoma multiforme(68;0.000674)		CTtgtagcagaatggtaagag	0.358000													5	12					0	0	0.184627	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785674	1785674	+	Nonsense_Mutation	SNP	C	C	A			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr19:1785674C>A	ENST00000539485.1	-	26	3450	c.3217G>T	c.(3217-3219)Gag>Tag	p.E1073*	ATP8B3_ENST00000525591.1_Nonsense_Mutation_p.E1026*|ATP8B3_ENST00000310127.6_Nonsense_Mutation_p.E1063*			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1063					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTACAGCTCCGGCTTCTCC	0.592000													5	20					0.014758	0.0155855	0.184627	1	0
BMP10	27302	broad.mit.edu	37	2	69093006	69093006	+	Silent	SNP	C	C	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr2:69093006C>T	ENST00000295379.1	-	2	1190	c.1032G>A	c.(1030-1032)ccG>ccA	p.P344P		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	344					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CGTATCCAGGCGGAGCGATGA	0.537000													13	71					0	0	0.479597	0	0
NAT10	55226	broad.mit.edu	37	11	34162078	34162078	+	Missense_Mutation	SNP	C	C	G			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr11:34162078C>G	ENST00000257829.3	+	24	2757	c.2551C>G	c.(2551-2553)Ctg>Gtg	p.L851V	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Missense_Mutation_p.L779V	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	851	Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CATCTATTTCCTGAACCAGCT	0.542000													13	50					0	0	0.435327	0	0
KCTD3	51133	broad.mit.edu	37	1	215793829	215793829	+	Missense_Mutation	SNP	C	C	G			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr1:215793829C>G	ENST00000259154.4	+	18	2611	c.2317C>G	c.(2317-2319)Ctg>Gtg	p.L773V	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	773						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AGTTCCCTATCTGGCGTCATC	0.433000													6	167					0	0	0.248553	0	0
CARD8	22900	broad.mit.edu	37	19	48733816	48733816	+	Missense_Mutation	SNP	A	A	G			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr19:48733816A>G	ENST00000391898.3	-	7	956	c.914T>C	c.(913-915)aTc>aCc	p.I305T	CARD8_ENST00000520153.1_Missense_Mutation_p.I255T|CARD8_ENST00000357778.5_Missense_Mutation_p.I30T|CARD8_ENST00000521613.1_Missense_Mutation_p.I255T|CARD8_ENST00000520015.1_Missense_Mutation_p.I305T|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000447740.2_Missense_Mutation_p.I255T|CARD8_ENST00000359009.4_Missense_Mutation_p.I199T|CARD8_ENST00000520753.1_Missense_Mutation_p.I305T|CARD8_ENST00000519940.1_Missense_Mutation_p.I305T	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	199					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCCACTGGCGATCCGCAGCAG	0.547000													26	87					0	0	0.667858	0	0
SARS	6301	broad.mit.edu	37	1	109773541	109773541	+	Silent	SNP	A	A	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr1:109773541A>T	ENST00000369923.4	+	5	500	c.489A>T	c.(487-489)acA>acT	p.T163T	SARS_ENST00000234677.2_Silent_p.T163T			P49591	SYSC_HUMAN	seryl-tRNA synthetase	163					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	GTGATTGTACAGTCAGGAAGA	0.438000													25	140					0	0	0.729181	0	0
SLC35F4	341880	broad.mit.edu	37	14	58063588	58063588	+	Missense_Mutation	SNP	G	G	A			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr14:58063588G>A	ENST00000339762.6	-	1	27	c.28C>T	c.(28-30)Cac>Tac	p.H10Y	SLC35F4_ENST00000554729.1_5'UTR|SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000556826.1_Intron					solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTCAGTTTGTGGAAGAGATCC	0.433000													8	48					0	0	0.307466	0	0
ABCC12	94160	broad.mit.edu	37	16	48138271	48138271	+	Silent	SNP	C	C	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr16:48138271C>T	ENST00000311303.3	-	20	3027	c.2682G>A	c.(2680-2682)aaG>aaA	p.K894K	ABCC12_ENST00000448542.1_Intron|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	894	ABC transmembrane type-1 2.		K -> M (in dbSNP:rs8057474).			integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TCATTGGGCTCTTTAAGATCT	0.507000													22	85					0	0	0.654019	0	0
C1orf173	127254	broad.mit.edu	37	1	75038614	75038614	+	Missense_Mutation	SNP	G	G	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr1:75038614G>T	ENST00000326665.5	-	14	2998	c.2780C>A	c.(2779-2781)aCa>aAa	p.T927K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	927	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTCCTCCGATGTCGCTGCCTC	0.552000													6	199					0.000157383	0.000169374	0.278610	1	0
FRMPD1	22844	broad.mit.edu	37	9	37731098	37731098	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr9:37731098C>T	ENST00000539465.1	+	9	1449	c.856C>T	c.(856-858)Cag>Tag	p.Q286*	FRMPD1_ENST00000377765.3_Nonsense_Mutation_p.Q286*|FRMPD1_ENST00000536622.1_Nonsense_Mutation_p.Q108*|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Nonsense_Mutation_p.Q155*			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	286	FERM.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCTCTATCTGCAGGTGACTGG	0.507000													25	57					0	0	0.740014	0	0
AP2M1	1173	broad.mit.edu	37	3	183896833	183896834	+	Frame_Shift_Ins	INS	-	-	G			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr3:183896833_183896834insG	ENST00000382456.3	+	3	577_578	c.263_264insG	c.(262-264)gatfs	p.D88fs	AP2M1_ENST00000439647.1_Frame_Shift_Ins_p.D88fs|AP2M1_ENST00000292807.5_Frame_Shift_Ins_p.D88fs|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000411763.2_Frame_Shift_Ins_p.D113fs	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	88					axon guidance|cellular membrane organization|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|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATGTGTGACGTGATGGCTGCCT	0.505													18	150	---	---	---	---					
SNAP91	9892	broad.mit.edu	37	6	84304170	84304170	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr6:84304170delG	ENST00000428679.2	-	17	1948	c.1355delC	c.(1354-1356)ctfs	p.P452fs	SNAP91_ENST00000520302.1_Frame_Shift_Del_p.P450fs|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000521743.1_Frame_Shift_Del_p.P452fs|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000195649.6_Frame_Shift_Del_p.P452fs|SNAP91_ENST00000439399.2_Frame_Shift_Del_p.P452fs|SNAP91_ENST00000369694.2_Frame_Shift_Del_p.P452fs|SNAP91_ENST00000521485.1_Frame_Shift_Del_p.P452fs			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	452	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GGATGCTGCAGGGGCCTCCCC	0.483													2	4	---	---	---	---					
EGFR	1956	broad.mit.edu	37	7	55242466	55242480	+	In_Frame_Del	DEL	GAATTAAGAGAAGCA	GAATTAAGAGAAGCA	-	rs121913438		TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr7:55242466_55242480delGAATTAAGAGAAGCA	ENST00000275493.2	+	19	2413_2427	c.2236_2250delGAATTAAGAGAAGCA	c.(2236-2250)del	p.ELREA746del	EGFR_ENST00000455089.1_In_Frame_Del_p.ELREA701del|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_In_Frame_Del_p.ELREA693del	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	746	Protein kinase.		Missing (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.K745_E749del(6)|p.E746_T751>V(6)|p.L747S(6)|p.E746_S752>A(6)|p.E746_T751>VA(6)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.K745_E746insVPVAIK(4)|p.E746_A750>IP(3)|p.L747P(3)|p.L747_S752>Q(3)|p.E746K(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.A750_E758>P(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.E746_A750>VP(1)|p.A750_K754del(1)|p.L747_P753del(1)|p.E746del(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.E749G(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.A750_E758del(1)|p.E746V(1)|p.I744_A750>VK(1)|p.R748I(1)|p.K745_A750del(1)|p.T751_E758del(1)|p.R748K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CGCTATCAAGGAATTAAGAGAAGCAACATCTCCGA	0.474	E746K(HCC827_LUNG)|E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			28	94	---	---	---	---					
NACA	4666	broad.mit.edu	37	12	57113686	57113687	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr12:57113686_57113687delGG	ENST00000454682.1	-	3	1908_1909	c.1627_1628delCC	c.(1627-1629)tfs	p.P543fs	NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Frame_Shift_Del_p.P543fs|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	17					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGAGAGAAAGGGGCTCCTTCA	0.475			T	BCL6	NHL								9	51	---	---	---	---					
NACA	4666	broad.mit.edu	37	12	57113816	57113819	+	Frame_Shift_Del	DEL	TGGT	TGGT	-	rs147776312	by1000genomes	TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr12:57113816_57113819delTGGT	ENST00000454682.1	-	3	1776_1779	c.1495_1498delACCA	c.(1495-1500)ctfs	p.TT499fs	NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Frame_Shift_Del_p.TT499fs|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						ATCCTCAGAGTGGTTGCTACTTGA	0.475			T	BCL6	NHL								9	78	---	---	---	---					
NOB1	28987	broad.mit.edu	37	16	69782978	69782980	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr16:69782978_69782980delTCC	ENST00000268802.5	-	6	596_598	c.567_569delGGA	c.(565-570)gaa>ga	p.EE189del		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	189	Poly-Glu.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGTTTTCTTCCTCCTCCTCCT	0.522													7	171	---	---	---	---					
LOC63930	63930	broad.mit.edu	37	20	61659469	61659483	+	RNA	DEL	GGCGGGGAGTGGTTT	GGCGGGGAGTGGTTT	-	rs61495421		TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chr20:61659469_61659483delGGCGGGGAGTGGTTT	ENST00000607802.1	+	0	91					NR_033370.1																						ggagggggccggcggggagtggtttggtggggagg	0.702													4	4	---	---	---	---					
PAK3	5063	broad.mit.edu	37	X	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chrX:110406206_110406208delGAA	ENST00000519681.1	+	10	1037_1039	c.595_597delGAA	c.(595-597)del	p.E203del	PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)			7	298	---	---	---	---					
LINC00893	100131434	broad.mit.edu	37	X	148621616	148621620	+	RNA	DEL	CCCCC	CCCCC	-			TCGA-J2-8192-01A-11D-2238-08	TCGA-J2-8192-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ff0abcf-911c-4531-833e-93dbab2c5e35	3ea49416-1c76-4ad9-8216-37be7101dd8c	g.chrX:148621616_148621620delCCCCC	ENST00000541582.1	-	0	119																											ccccgcccctcccccccctgccccg	0.737													3	5	---	---	---	---					
