Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
LUC7L3	51747	broad.mit.edu	37	17	48821167	48821167	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:48821167C>T	uc002isq.3	+	5	695	c.527C>T	c.(526-528)aCg>aTg	p.T176M	LUC7L3_uc002isp.2_Non-coding_Transcript|LUC7L3_uc010wmw.2_Missense_Mutation_p.T100M|LUC7L3_uc002isr.3_Missense_Mutation_p.T176M|LUC7L3_uc002iss.3_Missense_Mutation_p.T176M	NM_016424	NP_057508	O95232	LC7L3_HUMAN	Homo sapiens LUC7-like 3 (S. cerevisiae) (LUC7L3), transcript variant 1, mRNA.	176					RNA splicing|apoptosis|mRNA processing|response to stress	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AGGTCCACAACGTCGGTGAGT	0.368000														97			14		0	0	0.003163	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94740662	94740662	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr7:94740662G>A	uc003unp.3	+	2	1769	c.1487G>A	c.(1486-1488)cGt>cAt	p.R496H	PPP1R9A_uc010lfj.3_Missense_Mutation_p.R496H|PPP1R9A_uc011kif.2_Missense_Mutation_p.R496H|PPP1R9A_uc003unq.3_Missense_Mutation_p.R496H|PPP1R9A_uc011kig.2_Missense_Mutation_p.R496H	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	496	Interacts with protein phosphatase 1 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CTTGAAAAACGTGTAGAAAAG	0.383000										HNSCC(28;0.073)				97			6		0	0	0.001168	0	0
LRRCC1	85444	broad.mit.edu	37	8	86027446	86027446	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr8:86027446G>A	uc003ycw.3	+	4	864	c.656G>A	c.(655-657)tGc>tAc	p.C219Y	LRRCC1_uc010lzz.2_Intron|LRRCC1_uc022awx.1_Missense_Mutation_p.C126Y|LRRCC1_uc010maa.2_Intron|LRRCC1_uc003ycy.3_Missense_Mutation_p.C199Y	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	219					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CAGCTGCAGTGCCTAGAAGGT	0.323000														195			23		0	0	0.003330	0	0
MCM3AP	8888	broad.mit.edu	37	21	47676877	47676877	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr21:47676877C>T	uc002zir.1	-	16	3794	c.3758G>A	c.(3757-3759)cGc>cAc	p.R1253H	MCM3AP_uc002zip.1_5'UTR|MCM3AP_uc002ziq.1_Missense_Mutation_p.R180H	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1253					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CAGTTTCTTGCGGGCTGTGAC	0.587000														35			3		0	0	0.009096	0	0
CACNA1G	8913	broad.mit.edu	37	17	48650006	48650006	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:48650006C>T	uc002irk.1	+	5	1210	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W	CACNA1G_uc002iri.1_Missense_Mutation_p.R280W|CACNA1G_uc002irj.1_Missense_Mutation_p.R280W|CACNA1G_uc002irl.1_Missense_Mutation_p.R280W|CACNA1G_uc002irm.1_Missense_Mutation_p.R280W|CACNA1G_uc002irn.1_Missense_Mutation_p.R280W|CACNA1G_uc002iro.1_Missense_Mutation_p.R280W|CACNA1G_uc002irp.1_Missense_Mutation_p.R280W|CACNA1G_uc002irq.1_Missense_Mutation_p.R280W|CACNA1G_uc002irr.1_Missense_Mutation_p.R280W|CACNA1G_uc002irs.1_Missense_Mutation_p.R280W|CACNA1G_uc002irt.1_Missense_Mutation_p.R280W|CACNA1G_uc002iru.1_Missense_Mutation_p.R280W|CACNA1G_uc002irv.1_Missense_Mutation_p.R280W|CACNA1G_uc002irw.1_Missense_Mutation_p.R280W|CACNA1G_uc002irx.1_Missense_Mutation_p.R193W|CACNA1G_uc002iry.1_Missense_Mutation_p.R193W|CACNA1G_uc002isg.1_Missense_Mutation_p.R193W|CACNA1G_uc002ish.1_Missense_Mutation_p.R193W|CACNA1G_uc002isi.1_Missense_Mutation_p.R193W|CACNA1G_uc002irz.1_Missense_Mutation_p.R193W|CACNA1G_uc002isa.1_Missense_Mutation_p.R193W|CACNA1G_uc002isd.1_Missense_Mutation_p.R193W|CACNA1G_uc002isb.1_Missense_Mutation_p.R193W|CACNA1G_uc002isc.1_Missense_Mutation_p.R193W|CACNA1G_uc002ise.1_Missense_Mutation_p.R193W|CACNA1G_uc002isf.1_Missense_Mutation_p.R193W	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	280					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAACGGCATGCGGTCCTGCAG	0.647000														30			3		0	0	0.004672	0	0
NELL2	4753	broad.mit.edu	37	12	44917143	44917143	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:44917143A>T	uc010skz.1	-	17	2204	c.2079T>A	c.(2077-2079)gaT>gaA	p.D693E	NELL2_uc001rof.3_Missense_Mutation_p.D642E|NELL2_uc001rog.2_Missense_Mutation_p.D643E|NELL2_uc001roh.2_Missense_Mutation_p.D643E|NELL2_uc009zkd.2_Missense_Mutation_p.D595E|NELL2_uc010sla.1_Missense_Mutation_p.D666E|NELL2_uc001roi.1_Missense_Mutation_p.D643E	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	643	VWFC 3.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TAACTTTTCCATCATGGATGC	0.413000														244			24		0	0	0.004656	0	0
SEC31B	25956	broad.mit.edu	37	10	102262171	102262171	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr10:102262171C>T	uc001krc.1	-	10	1352	c.1250G>A	c.(1249-1251)cGc>cAc	p.R417H	SEC31B_uc010qpo.1_Missense_Mutation_p.R416H|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_5'UTR|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_5'UTR	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	417					protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GAAGACTAGGCGGGGGCAAGG	0.527000														112			15		0	0	0.004990	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	T	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr20:33345744C>T	uc002xav.3	-	7	3378	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_uc002xaw.3_Silent_p.Q269Q|NCOA6_uc021wcd.1_Silent_p.Q269Q|NCOA6_uc021wce.1_Silent_p.Q269Q|NCOA6_uc021wcf.1_Silent_p.Q269Q|NCOA6_uc010gew.1_Silent_p.Q226Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(29)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000														113			6		0	0	0.001168	0	0
KLC3	147700	broad.mit.edu	37	19	45853603	45853603	+	Nonsense_Mutation	SNP	C	G	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:45853603C>G	uc002pbg.1	+	7	1290	c.1190C>G	c.(1189-1191)tCa>tGa	p.S397*	KLC3_uc002pbf.1_Nonsense_Mutation_p.S383*|KLC3_uc010ejy.1_Nonsense_Mutation_p.S382*	NM_177417	NP_803136	Q6P597	KLC3_HUMAN	Homo sapiens kinesin light chain 3 (KLC3), mRNA.	383						cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCGCAGGCCTCAGCCTACCTG	0.532000														100			8		0	0	0.008291	0	0
PDIA3P	171423	broad.mit.edu	37	1	146649771	146649771	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:146649771G>A	uc001epg.1	+	0	342	c.79G>A	c.(79-81)Gtg>Atg	p.V27M						Homo sapiens protein disulfide isomerase family A, member 3 pseudogene (PDIA3P), non-coding RNA.																		TGCCTCCGACGTGCTAGGACT	0.711000														68			13		0	0	0.013537	0	0
ZNF777	27153	broad.mit.edu	37	7	149129516	149129516	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr7:149129516G>A	uc003wfv.3	-	5	2010	c.1847C>T	c.(1846-1848)gCg>gTg	p.A616V		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CGGCTTGAGCGCGTGCTTGGG	0.672000														226			35		0	0	0.003271	0	0
MST1	4485	broad.mit.edu	37	3	49723545	49723545	+	Missense_Mutation	SNP	G	A	A	rs4052562		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr3:49723545G>A	uc003cxg.3	-	8	1169	c.1097C>T	c.(1096-1098)gCg>gTg	p.A366V	MST1_uc011bcs.1_Missense_Mutation_p.R405W|MST1_uc010hkx.2_3'UTR|MST1_uc011bct.1_3'UTR	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	352					proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCAAAAGGCCGCGCGCATGCC	0.667000														37			3		0	0	0.001168	0	0
FPGS	2356	broad.mit.edu	37	9	130575756	130575756	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr9:130575756C>T	uc004bsg.1	+	14	1687	c.1637C>T	c.(1636-1638)aCc>aTc	p.T546I	FPGS_uc004bsh.1_Missense_Mutation_p.T363I|FPGS_uc011mal.1_Missense_Mutation_p.T520I|FPGS_uc004bsi.1_Missense_Mutation_p.T496I|AK057719_uc004bsl.1_5'Flank	NM_004957	NP_004948	Q05932	FOLC_HUMAN	Homo sapiens folylpolyglutamate synthase (FPGS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	546					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	GGCCTCCTCACCCACCCTGTG	0.607000														216			16		0	0	0.004007	0	0
GDE1	51573	broad.mit.edu	37	16	19528372	19528372	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr16:19528372A>T	uc002dgh.3	-	1	565	c.401T>A	c.(400-402)aTt>aAt	p.I134N	GDE1_uc002dgi.3_Missense_Mutation_p.I24N	NM_016641	NP_057725	Q9NZC3	GDE1_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase 1 (GDE1), mRNA.	134	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						CAGCTTCCTAATTTGTTCAAA	0.408000														196			38		0	0	0.008740	0	0
ACTA1	58	broad.mit.edu	37	1	229568336	229568336	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:229568336C>T	uc001htm.3	-	2	526	c.421G>A	c.(421-423)Gtg>Atg	p.V141M		NM_001100	NP_001091	P68133	ACTS_HUMAN	Homo sapiens actin, alpha 1, skeletal muscle (ACTA1), mRNA.	141					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	AGGGACAGCACGGCCTGGATG	0.706000														146			31		0	0	0.010818	0	0
LOC390660	390660	broad.mit.edu	37	15	82620272	82620272	+	RNA	SNP	A	T	T	rs141755317	by1000genomes	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr15:82620272A>T	uc021ssl.1	+	18		c.3752A>T			LOC390660_uc010bls.1_Non-coding_Transcript					Homo sapiens FLJ00317 protein (LOC390660), non-coding RNA.																		GGGGACTCCCACCTTCCCAAC	0.637000														6			3		0	0	0.004672	0	0
PIK3CA	5290	broad.mit.edu	37	3	178948163	178948163	+	Splice_Site	SNP	A	G	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr3:178948163A>G	uc003fjk.3	+	20	3093	c.2936_splice	c.e20+1	p.R979_splice		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	979	PI3K/PI4K.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGAATTTGAGAGGTGAGCTCG	0.338000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)				120			15		0	0	0.002450	0	0
ADAM21	8747	broad.mit.edu	37	14	70924812	70924812	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr14:70924812C>T	uc021rvq.1	+	0	596	c.596C>T	c.(595-597)tCt>tTt	p.S199F	ADAM21_uc001xmd.3_Missense_Mutation_p.S199F	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	199					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GAACCAAAATCTGCTGGTGAC	0.448000														199			7		0	0	0.006214	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	A	A	rs121913529		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:25398284C>A	uc001rgp.1	-	1	216	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				35			3		0.004672	0.00476015	0.004672	1	0
ABCC11	85320	broad.mit.edu	37	16	48209224	48209224	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr16:48209224G>A	uc002eff.1	-	24	3993	c.3643C>T	c.(3643-3645)Cgg>Tgg	p.R1215W	ABCC11_uc002efg.1_Missense_Mutation_p.R1215W|ABCC11_uc002efh.1_Missense_Mutation_p.R1215W|ABCC11_uc010cbg.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	1215	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AGCTTGGACCGCAAGTCCTCC	0.622000														85			4		0	0	0.009096	0	0
NOTCH3	4854	broad.mit.edu	37	19	15271507	15271507	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:15271507G>A	uc002nan.3	-	32	7008	c.6932C>T	c.(6931-6933)cCg>cTg	p.P2311L		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	2311					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGTAACTTCCGGCTGGGGCCC	0.627000														116			20		0	0	0.008871	0	0
SLC37A1	54020	broad.mit.edu	37	21	43999848	43999848	+	Silent	SNP	C	T	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr21:43999848C>T	uc002zbj.3	+	18	2506	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	SLC37A1_uc002zbi.3_Silent_p.F508F	NM_018964	NP_061837	P57057	GLPT_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 1 (SLC37A1), mRNA.	508					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						TGGTGCAGTTCCTGATCCGCC	0.647000														62			5		0	0	0.000602	0	0
TBX5	6910	broad.mit.edu	37	12	114836449	114836449	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:114836449G>T	uc001tvo.3	-	4	934	c.439C>A	c.(439-441)Cat>Aat	p.H147N	TBX5_uc001tvp.3_Missense_Mutation_p.H147N|TBX5_uc001tvq.3_Missense_Mutation_p.H97N|TBX5_uc010syv.2_Missense_Mutation_p.H147N	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	147					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CTCATCCAATGCGCCCCGGTG	0.612000														33			8		5.4927e-09	5.93212e-09	0.004482	1	0
ANKRD20A2	441430	broad.mit.edu	37	2	95522747	95522747	+	RNA	SNP	C	G	G	rs10874467	by1000genomes	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:95522747C>G	uc010fhp.3	-	0		c.74G>C						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						GGTCTCCGCTCCTGCGCGCCA	0.706000														95			4		0	0	0.009096	0	0
ADH1A	124	broad.mit.edu	37	4	100205883	100205883	+	Silent	SNP	A	G	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr4:100205883A>G	uc003hur.2	-	3	451	c.337T>C	c.(337-339)Ttg>Ctg	p.L113L	LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.2_Silent_p.L113L	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	113					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	TCGTTTTTCAAGCAGTAGTTG	0.433000														95			18		0	0	0.004990	0	0
LRRK1	79705	broad.mit.edu	37	15	101565029	101565029	+	Missense_Mutation	SNP	G	A	A	rs141102052	by1000genomes	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr15:101565029G>A	uc002bwr.3	+	15	2408	c.2089G>A	c.(2089-2091)Gtc>Atc	p.V697I	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	697	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGAGTTCAACGTCTGGGACAT	0.562000														266			10		0	0	0.008291	0	0
LRFN5	145581	broad.mit.edu	37	14	42356419	42356419	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr14:42356419G>A	uc001wvm.3	+	2	1789	c.591G>A	c.(589-591)atG>atA	p.M197I	LRFN5_uc010ana.3_Missense_Mutation_p.M197I	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	197						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGCACAAGATGACTCGGTTAG	0.443000										HNSCC(30;0.082)				98			15		0	0	0.003163	0	0
GAGE1	2543	broad.mit.edu	37	X	49355893	49355893	+	Missense_Mutation	SNP	C	G	G	rs147803166	by1000genomes	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chrX:49355893C>G	uc004doi.4	+	2	272	c.175C>G	c.(175-177)Cag>Gag	p.Q59E	GAGE1_uc004doj.3_Intron	NM_001127212	NP_001120684	Q13065	GAGE1_HUMAN	Homo sapiens G antigen 2A (GAGE2A), mRNA.	60					cellular defense response			p.Q59E(8)				Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562000														26			3		0	0	0.004672	0	0
KLC3	147700	broad.mit.edu	37	19	45853629	45853629	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:45853629C>T	uc002pbg.1	+	7	1316	c.1216C>T	c.(1216-1218)Caa>Taa	p.Q406*	KLC3_uc002pbf.1_Nonsense_Mutation_p.Q392*|KLC3_uc010ejy.1_Nonsense_Mutation_p.Q391*	NM_177417	NP_803136	Q6P597	KLC3_HUMAN	Homo sapiens kinesin light chain 3 (KLC3), mRNA.	392						cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GAACAAGTATCAACAAGCGGA	0.567000														115			13		0	0	0.004990	0	0
RTN4RL1	146760	broad.mit.edu	37	17	1840990	1840990	+	Silent	SNP	C	T	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:1840990C>T	uc002ftp.3	-	1	145	c.126G>A	c.(124-126)gcG>gcA	p.A42A		NM_178568	NP_848663	Q86UN2	R4RL1_HUMAN	Homo sapiens reticulon 4 receptor-like 1 (RTN4RL1), mRNA.	42	LRRNT.				axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CAAAGTTGTGCGCCTGGCAGC	0.672000														41			4		0	0	0.000602	0	0
IGSF10	285313	broad.mit.edu	37	3	151155325	151155325	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr3:151155325G>C	uc011bod.2	-	5	7024	c.7024C>G	c.(7024-7026)Cca>Gca	p.P2342A	IGSF10_uc011bob.2_Missense_Mutation_p.P369A|IGSF10_uc011boc.2_Missense_Mutation_p.P321A	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2342	Ig-like C2-type 10.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCATTAAATGGATTTCTAAAT	0.423000														274			11		0	0	0.010729	0	0
ZNF671	79891	broad.mit.edu	37	19	58232832	58232832	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:58232832C>T	uc002qpz.4	-	3	721	c.622G>A	c.(622-624)Gac>Aac	p.D208N	ZNF551_uc002qpx.3_Intron|ZNF671_uc010eug.3_Missense_Mutation_p.D131N|ZNF671_uc010yhf.2_Missense_Mutation_p.D110N	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	Homo sapiens zinc finger protein 671 (ZNF671), mRNA.	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGGTGCTGGTCAAAGTCTGTA	0.502000														245			15		0	0	0.004007	0	0
UQCRC2	7385	broad.mit.edu	37	16	21974207	21974207	+	Splice_Site	SNP	G	T	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr16:21974207G>T	uc002djx.3	+	6	650	c.514_splice	c.e6+1	p.H172_splice	UQCRC2_uc002djz.1_Splice_Site_p.H39_splice	NM_003366	NP_003357	P22695	QCR2_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase core protein II (UQCRC2), nuclear gene encoding mitochondrial protein, mRNA.	172					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		CCGCAGACTCGTAAGTACATT	0.363000														100			10		1.33987e-11	1.46168e-11	0.008291	1	0
ERCC2	2068	broad.mit.edu	37	19	45854979	45854979	+	Splice_Site	SNP	C	G	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:45854979C>G	uc002pbj.2	-	23	2238	c.2191_splice	c.e23-1	p.E731_splice	ERCC2_uc002pbh.2_Splice_Site_p.E294_splice|ERCC2_uc002pbi.2_Splice_Site_p.E424_splice|ERCC2_uc010ejz.2_Splice_Site_p.E653_splice	NM_000400	NP_000391	P18074	ERCC2_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2), transcript variant 1, mRNA.	731					UV protection|cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	MMXD complex|cytoplasm|holo TFIIH complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		AGCTGATCCTCCTGCAGAGAA	0.627000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					167			18		0	0	0.006122	0	0
TMCC2	9911	broad.mit.edu	37	1	205241064	205241064	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:205241064A>G	uc021pia.1	+	4	2597	c.1942A>G	c.(1942-1944)Aac>Gac	p.N648D	TMCC2_uc010prf.2_Missense_Mutation_p.N570D|TMCC2_uc001hca.3_Missense_Mutation_p.N423D|TMCC2_uc001hcb.2_Missense_Mutation_p.N408D|TMCC2_uc001hcc.2_Missense_Mutation_p.N269D|TMCC2_uc001hcd.3_3'UTR	NM_014858	NP_001229854	O75069	TMCC2_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 2 (TMCC2), transcript variant 1, mRNA.	648						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CAAGTTCATCAACGTGATCCT	0.627000														197			27		0	0	0.005443	0	0
TTN	7273	broad.mit.edu	37	2	179641506	179641506	+	Silent	SNP	A	G	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:179641506A>G	uc021vsy.1	-	27	5310	c.5085T>C	c.(5083-5085)taT>taC	p.Y1695Y	TTN_uc021vsz.1_Silent_p.Y1649Y|TTN_uc021vta.1_Silent_p.Y1649Y|TTN_uc021vtb.1_Silent_p.Y1649Y|TTN_uc002unb.2_Silent_p.Y1695Y|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1695							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCTTTGTCATAGAGATCAC	0.473000														104			21		0	0	0.010504	0	0
ADCY8	114	broad.mit.edu	37	8	132051844	132051844	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr8:132051844C>T	uc003ytd.4	-	0	992	c.736G>A	c.(736-738)Ggc>Agc	p.G246S	ADCY8_uc010mds.3_Missense_Mutation_p.G246S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	246					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)			GTGACCACGCCGCTGTACTGC	0.637000										HNSCC(32;0.087)				93			5		0	0	0.000602	0	0
MST1	4485	broad.mit.edu	37	3	49723542	49723542	+	Missense_Mutation	SNP	G	C	C	rs2087732		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr3:49723542G>C	uc003cxg.3	-	8	1172	c.1100C>G	c.(1099-1101)gCc>gGc	p.A367G	MST1_uc011bcs.1_Missense_Mutation_p.P406A|MST1_uc010hkx.2_3'UTR|MST1_uc011bct.1_3'UTR	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	353					proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTAGCAAAAGGCCGCGCGCAT	0.672000														33			3		0	0	0.001168	0	0
CSNK2A1	1457	broad.mit.edu	37	20	470440	470440	+	Missense_Mutation	SNP	T	C	C	rs61730060		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr20:470440T>C	uc002wdw.1	-	9	1100	c.707A>G	c.(706-708)cAt>cGt	p.H236R	CSNK2A1_uc002wdx.1_Missense_Mutation_p.H236R|CSNK2A1_uc002wdy.1_Missense_Mutation_p.H100R	NM_177559	NP_808228	P68400	CSK21_HUMAN	Homo sapiens casein kinase 2, alpha 1 polypeptide (CSNK2A1), transcript variant 1, mRNA.	236	Protein kinase.				Wnt receptor signaling pathway|axon guidance	NuRD complex|Sin3 complex|cytosol|plasma membrane	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	p.H236R(4)|p.G235A(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			ATAATTGTCATGTCCATGGAA	0.373000														98			4		0	0	0.009096	0	0
MUC6	4588	broad.mit.edu	37	11	1031906	1031906	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr11:1031906C>T	uc001lsw.2	-	2	314	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	88	VWFD 1.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCTGGGCCTCGCCGCAGCTG	0.622000														92			5		0	0	0.000602	0	0
DDX31	64794	broad.mit.edu	37	9	135537950	135537950	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr9:135537950C>T	uc004cbq.1	-	1	675	c.523G>A	c.(523-525)Gca>Aca	p.A175T	DDX31_uc010mzu.1_Missense_Mutation_p.A175T|DDX31_uc004cbr.1_Missense_Mutation_p.A175T|DDX31_uc004cbs.2_Missense_Mutation_p.A175T	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 (DDX31), transcript variant 1, mRNA.	175						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		ATTTTTTGTGCGTTCCCCTTA	0.428000														175			28		0	0	0.007291	0	0
BCKDHA	593	broad.mit.edu	37	19	41928085	41928085	+	Silent	SNP	C	T	T	rs151227241		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:41928085C>T	uc002oqq.3	+	5	702	c.663C>T	c.(661-663)taC>taT	p.Y221Y	BCKDHA_uc002oqm.4_Silent_p.Y255Y|BCKDHA_uc002oqp.2_Silent_p.Y113Y|BCKDHA_uc002oqr.3_Silent_p.Y221Y|BCKDHA_uc010xvz.2_Silent_p.Y199Y	NM_000709	NP_000700	P12694	ODBA_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	221					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GGGCGGCGTACGCAGCCAAGC	0.637000														79			5		0	0	0.000602	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777015	18777015	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr9:18777015G>A	uc003zne.4	+	18	2940	c.2788G>A	c.(2788-2790)Ggc>Agc	p.G930S		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	930	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGCCCCCTTCGGCTATCTCAA	0.667000														121			12		0	0	0.010729	0	0
NLRC5	84166	broad.mit.edu	37	16	57060803	57060803	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr16:57060803G>A	uc021tiu.1	+	4	2075	c.1948G>A	c.(1948-1950)Gac>Aac	p.D650N	NLRC5_uc021tit.1_Missense_Mutation_p.D650N|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Missense_Mutation_p.D455N|NLRC5_uc021tiw.1_Missense_Mutation_p.D455N|NLRC5_uc010ccr.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	650					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GACCTGCACCGACCTGGCCAC	0.602000														186			11		0	0	0.008291	0	0
GPR112	139378	broad.mit.edu	37	X	135432097	135432097	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chrX:135432097G>C	uc004ezu.1	+	5	6523	c.6232G>C	c.(6232-6234)Ggt>Cgt	p.G2078R	GPR112_uc010nsb.1_Missense_Mutation_p.G1873R|GPR112_uc010nsc.1_Missense_Mutation_p.G1845R	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2078					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACCTACACTGGGTGGTATCAC	0.468000														149			10		0	0	0.013537	0	0
CACNA1E	777	broad.mit.edu	37	1	181732595	181732595	+	Silent	SNP	C	T	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:181732595C>T	uc009wxt.3	+	33	4938	c.4743C>T	c.(4741-4743)gcC>gcT	p.A1581A	CACNA1E_uc001gow.3_Silent_p.A1581A|CACNA1E_uc009wxs.3_Silent_p.A1562A|CACNA1E_uc001gox.1_Silent_p.A807A	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1581					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCCGAGCTGCCCGCCTCATAA	0.463000														102			5		0	0	0.000602	0	0
CDK12	51755	broad.mit.edu	37	17	37687333	37687333	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:37687333C>G	uc010cvv.3	+	13	4823	c.4237C>G	c.(4237-4239)Cac>Gac	p.H1413D	CDK12_uc002hrw.4_Missense_Mutation_p.H1404D	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	1413					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CTTAGCGTTACACCCGGTGGT	0.582000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)				143			7		0	0	0.001984	0	0
TUBA1A	7846	broad.mit.edu	37	12	49580155	49580155	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:49580155G>A	uc009zlf.3	-	2	585	c.313C>T	c.(313-315)Cga>Tga	p.R105*	TUBA1A_uc001rtp.3_Nonsense_Mutation_p.R105*	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN	Homo sapiens tubulin, alpha 1a (TUBA1A), mRNA.	105					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						TAGTGCCCTCGGGCATAGTTA	0.468000														351			18		0	0	0.012319	0	0
CELSR3	1951	broad.mit.edu	37	3	48677669	48677669	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr3:48677669G>A	uc003cuf.1	-	35	9643	c.9643C>T	c.(9643-9645)Cgg>Tgg	p.R3215W	CELSR3_uc010hkf.3_Missense_Mutation_p.R407W|CELSR3_uc010hkg.3_Missense_Mutation_p.R1100W|CELSR3_uc003cul.3_Missense_Mutation_p.R3117W	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	3117					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTGCTGCCCCGATCTTTGGGC	0.682000														100			12		0	0	0.010729	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820358	35820358	+	Silent	SNP	C	T	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chrX:35820358C>T	uc010ngt.1	+	1	324	c.45C>T	c.(43-45)caC>caT	p.H15H	MAGEB16_uc022bus.1_Silent_p.H15H	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	15										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ATGATCAGCACCTTCAGACCT	0.572000														46			8		0	0	0.003080	0	0
ST8SIA6	338596	broad.mit.edu	37	10	17363212	17363212	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr10:17363212C>T	uc001ipd.3	-	7	862	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	ST8SIA6_uc010qce.2_Non-coding_Transcript	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 (ST8SIA6), mRNA.	288					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.L287L(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TTAGACTCTTCGAGCGTGTAG	0.443000														414			11		0	0	0.008291	0	0
OR2L13	284521	broad.mit.edu	37	1	248262826	248262826	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:248262826T>G	uc001ids.3	+	2	486	c.149T>G	c.(148-150)gTg>gGg	p.V50G	OR2L13_uc021pmc.1_Missense_Mutation_p.V50G	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.H49H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CTCATCCACGTGGATCCTCGT	0.502000														297			11		0	0	0.013537	0	0
CXorf22	170063	broad.mit.edu	37	X	35974224	35974224	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chrX:35974224G>A	uc004ddj.3	+	7	1387	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	441								p.E441K(3)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AAATCAATGCGAATTACTTCC	0.358000														84			7		0	0	0.001984	0	0
ANK3	288	broad.mit.edu	37	10	61847990	61847990	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr10:61847990C>G	uc001jky.3	-	28	3793	c.3455G>C	c.(3454-3456)gGa>gCa	p.G1152A	ANK3_uc001jkw.3_Missense_Mutation_p.G286A|ANK3_uc009xpa.3_Missense_Mutation_p.G286A|ANK3_uc001jkx.3_Missense_Mutation_p.G330A|ANK3_uc010qih.2_Missense_Mutation_p.G1153A|ANK3_uc001jkz.4_Missense_Mutation_p.G1146A|ANK3_uc001jla.1_Missense_Mutation_p.G218A|ANK3_uc001jlb.1_Missense_Mutation_p.G670A	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1152					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCTCAGAATTCCACCTTCAGG	0.468000														213			27		0	0	0.005443	0	0
abParts	0	broad.mit.edu	37	14	107281194	107281194	+	RNA	SNP	T	G	G	rs4774030	by1000genomes	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr14:107281194T>G	uc021ser.1	-	2		c.189A>C								Parts of antibodies, mostly variable regions.																		AGACAGCGCATGTGAGGGACA	0.592000														48			4		0	0	0.009096	0	0
OR11H1	81061	broad.mit.edu	37	22	16449649	16449649	+	Silent	SNP	C	T	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr22:16449649C>T	uc011agd.2	-	0	156	c.156G>A	c.(154-156)ctG>ctA	p.L52L		NM_001005239	NP_001005239	Q8NG94	O11H1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 1 (OR11H1), mRNA.	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		CTGTTATAGTCAGTGCATATG	0.418000														357			18		0	0	0.014323	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163215	163215	+	RNA	SNP	G	A	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr8:163215G>A	uc010lra.3	-	3		c.918C>T			RPL23AP53_uc003woq.4_Non-coding_Transcript|RPL23AP53_uc010lrb.3_Non-coding_Transcript					Homo sapiens ribosomal protein L23a pseudogene 53 (RPL23AP53), non-coding RNA.																		AGATACACATGTATTTAGAGT	0.323000														95			5		0	0	0.003080	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140176361	140176361	+	Silent	SNP	C	T	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr5:140176361C>T	uc003lhd.2	+	0	1918	c.1812C>T	c.(1810-1812)aaC>aaT	p.N604N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.N604N|PCDHAC2_uc011czy.2_Silent_p.N604N	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	617	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.N604N(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGCTACAACGCGTGGCTTT	0.657000														168			7		0	0	0.001984	0	0
GDE1	51573	broad.mit.edu	37	16	19528371	19528371	+	Silent	SNP	A	T	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr16:19528371A>T	uc002dgh.3	-	1	566	c.402T>A	c.(400-402)atT>atA	p.I134I	GDE1_uc002dgi.3_Silent_p.I24I	NM_016641	NP_057725	Q9NZC3	GDE1_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase 1 (GDE1), mRNA.	134	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						TCAGCTTCCTAATTTGTTCAA	0.408000														198			37		0	0	0.007835	0	0
SNORD109B	338429	broad.mit.edu	37	15	25287181	25287181	+	RNA	SNP	G	A	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr15:25287181G>A	uc001yxf.1	+	0		c.61G>A								Homo sapiens small nucleolar RNA, C/D box 109B (SNORD109B), small nucleolar RNA.																		ATGTCAATCTGAGGTCCAGAT	0.478000														66			9		0	0	0.004482	0	0
CAPS2	84698	broad.mit.edu	37	12	75687069	75687069	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:75687069G>A	uc001sxl.3	-	11	1152	c.1123C>T	c.(1123-1125)Cga>Tga	p.R375*	CAPS2_uc001sxm.3_Nonsense_Mutation_p.R162*|CAPS2_uc009zsa.2_5'UTR|CAPS2_uc001sxi.4_Nonsense_Mutation_p.R130*|CAPS2_uc001sxj.4_Nonsense_Mutation_p.R305*|CAPS2_uc001sxk.4_Nonsense_Mutation_p.R394*	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	Homo sapiens calcyphosine 2 (CAPS2), mRNA.	394							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						TTTGTGATTCGGAGTTTAAGT	0.318000														120			5		0	0	0.000602	0	0
RYR1	6261	broad.mit.edu	37	19	38976522	38976522	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:38976522G>A	uc002oit.3	+	33	5357	c.5227G>A	c.(5227-5229)Gcc>Acc	p.A1743T	RYR1_uc002oiu.3_Missense_Mutation_p.A1743T	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1743	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGAGACCCGCGCCATCACGCT	0.622000														153			21		0	0	0.008871	0	0
NFATC2	4773	broad.mit.edu	37	20	50140613	50140613	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr20:50140613G>A	uc002xwd.3	-	1	387	c.167C>T	c.(166-168)tCc>tTc	p.S56F	NFATC2_uc002xwc.3_Missense_Mutation_p.S56F|NFATC2_uc010zyv.2_Intron|NFATC2_uc010zyw.2_Intron|NFATC2_uc002xwe.3_Missense_Mutation_p.S36F|NFATC2_uc010zyx.2_Missense_Mutation_p.S36F|NFATC2_uc010zyy.2_Intron|NFATC2_uc010zyz.2_Intron	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	56					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TGCGGGTCCGGAGGGTGGGCT	0.597000														138			6		0	0	0.001984	0	0
SRPK2	6733	broad.mit.edu	37	7	104844187	104844187	+	Silent	SNP	C	T	T	rs150640356		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr7:104844187C>T	uc003vct.3	-	1	271	c.84G>A	c.(82-84)ccG>ccA	p.P28P	SRPK2_uc003vcu.3_Silent_p.P28P|SRPK2_uc003vcv.3_Silent_p.P39P|SRPK2_uc003vcw.1_Silent_p.P28P	NM_182691	NP_872633	P78362	SRPK2_HUMAN	Homo sapiens SRSF protein kinase 2 (SRPK2), transcript variant 2, mRNA.	28					angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						gtggtggtggcggtggAGGAG	0.552000														46			3		0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179464316	179464316	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:179464316C>A	uc021vsy.1	-	237	48833	c.48608G>T	c.(48607-48609)gGa>gTa	p.G16203V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G9898V|TTN_uc021vta.1_Missense_Mutation_p.G9831V|TTN_uc021vtb.1_Missense_Mutation_p.G9706V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17130	Fibronectin type-III 17.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATGCTGTTCCCAGATTATT	0.388000														506			27		3.00307e-07	3.2112e-07	0.008361	1	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	A	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr9:20414340G>A	uc003zoe.2	-	4	763	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_uc011lne.1_Silent_p.S136S|MLLT3_uc011lnf.1_Silent_p.S165S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)|p.S168S(10)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL									132			7		0	0	0.001984	0	0
GPR45	11250	broad.mit.edu	37	2	105858390	105858390	+	Silent	SNP	G	A	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:105858390G>A	uc002tco.1	+	0	191	c.75G>A	c.(73-75)ggG>ggA	p.G25G		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.	25						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CAGACTCGGGGTCCACCCAGT	0.602000														172			8		0	0	0.003080	0	0
OTOF	9381	broad.mit.edu	37	2	26702178	26702178	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:26702178C>T	uc002rhk.3	-	17	2295	c.2168G>A	c.(2167-2169)cGc>cAc	p.R723H	OTOF_uc002rhh.3_5'Flank|OTOF_uc002rhi.3_5'Flank|OTOF_uc002rhj.3_5'Flank	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	723					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTAGAGGCGGCGGCGCTGGTC	0.652000														40			9		0	0	0.006214	0	0
TECR	9524	broad.mit.edu	37	19	14674472	14674472	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:14674472C>T	uc002mza.3	+	3	251	c.121C>T	c.(121-123)Ccg>Tcg	p.P41S	TECR_uc010xns.2_5'UTR|TECR_uc002mzc.3_5'UTR|TECR_uc002mzb.3_Missense_Mutation_p.P56S|TECR_uc002mze.3_5'Flank	NM_138501	NP_612510	Q9NZ01	TECR_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase (TECR), transcript variant 1, mRNA.	41					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						CCCCGCAGATCCGCAGTGGTA	0.697000														81			5		0	0	0.000602	0	0
PGAP2	27315	broad.mit.edu	37	11	3838588	3838588	+	Silent	SNP	G	A	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr11:3838588G>A	uc010qxw.2	+	3	367	c.342G>A	c.(340-342)acG>acA	p.T114T	PGAP2_uc001lyl.3_Intron|PGAP2_uc010qxy.2_Intron|PGAP2_uc001lyn.4_Intron|PGAP2_uc010qya.2_Intron|PGAP2_uc010qyb.2_Intron|PGAP2_uc001lys.3_Silent_p.T57T|PGAP2_uc001lyt.3_Intron|PGAP2_uc021qcm.1_Intron	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	Homo sapiens post-GPI attachment to proteins 2 (PGAP2), transcript variant 1, mRNA.	57					GPI anchor biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						CTTAGGCCACGCCCTGCAGGA	0.592000														184			23		0	0	0.003954	0	0
ERCC2	2068	broad.mit.edu	37	19	45854888	45854888	+	Nonstop_Mutation	SNP	C	G	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:45854888C>G	uc002pbj.2	-	22	2329	c.2282G>C	c.(2281-2283)tGa>tCa	p.*761S	ERCC2_uc002pbh.2_Nonstop_Mutation_p.*324S|ERCC2_uc002pbi.2_Nonstop_Mutation_p.*454S|ERCC2_uc010ejz.2_Nonstop_Mutation_p.*683S	NM_000400	NP_000391	P18074	ERCC2_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2), transcript variant 1, mRNA.	0					UV protection|cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	MMXD complex|cytoplasm|holo TFIIH complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCGCCCCACTCAGAGCTGCTG	0.592000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					358			29		0	0	0.012213	0	0
MUC16	94025	broad.mit.edu	37	19	9074001	9074001	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:9074001G>A	uc002mkp.3	-	2	13649	c.13445C>T	c.(13444-13446)gCg>gTg	p.A4482V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4484	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACTGAAGTCGCAGAAACAGG	0.463000														172			11		0	0	0.010729	0	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	A	A	rs121912651		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:7577539G>A	uc002gim.2	-	6	936	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.3_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(1057)|p.R248Q(565)|p.R248L(70)|p.R155W(28)|p.R248G(24)|p.R248P(16)|p.R248R(12)|p.N247N(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.M246_P250delMNRRP(4)|p.N247_R248>KW(4)|p.N247_R248delNR(4)|p.N247T(4)|p.R248fs*97(4)|p.N247I(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247K(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.N247_R248>IP(2)|p.R248fs*>39(1)|p.unknown(1)|p.N247F(1)|p.N247fs*98(1)|p.R248Y(1)|p.G245fs*14(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				88			20		0	0	0.002780	0	0
NKX2-2	4821	broad.mit.edu	37	20	21492879	21492879	+	Silent	SNP	C	T	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr20:21492879C>T	uc002wsi.3	-	1	861	c.504G>A	c.(502-504)acG>acA	p.T168T		NM_002509	NP_002500	O95096	NKX22_HUMAN	Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA.	168					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCTGCGTGGGCGTGAGGCGGA	0.677000														46			9		0	0	0.006214	0	0
TSSK6	83983	broad.mit.edu	37	19	19625658	19625658	+	Silent	SNP	G	A	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:19625658G>A	uc002nmr.3	-	0	812	c.579C>T	c.(577-579)taC>taT	p.Y193Y	TSSK6_uc002nmq.3_Non-coding_Transcript|YJEFN3_uc021uqu.1_5'Flank|YJEFN3_uc021uqv.1_5'Flank|YJEFN3_uc021uqw.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	Homo sapiens testis-specific serine kinase 6 (TSSK6), mRNA.	193	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						TCCACACATCGTACTTCTTGG	0.662000														65			6		0	0	0.001168	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945433	16945433	+	RNA	SNP	T	C	C			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:16945433T>C	uc010ocf.2	-	3		c.724A>G			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		GCGCTCCTGCTCCGCAAGCCT	0.637000														230			8		0	0	0.003080	0	0
HMGN2P46	283651	broad.mit.edu	37	15	45848224	45848224	+	RNA	SNP	G	T	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr15:45848224G>T	uc001zvn.1	+	3		c.978G>T			HMGN2P46_uc010beg.1_Non-coding_Transcript|HMGN2P46_uc010beh.1_Non-coding_Transcript|HMGN2P46_uc010bei.1_Non-coding_Transcript|HMGN2P46_uc010bej.1_Non-coding_Transcript|HMGN2P46_uc001zvm.1_Non-coding_Transcript					Homo sapiens high mobility group nucleosomal binding domain 2 pseudogene 46 (HMGN2P46), non-coding RNA.																		TGCAGATTTTGTTTAGCTTTT	0.318000														43			11		9.31168e-06	9.85943e-06	0.001855	1	0
TSTA3	7264	broad.mit.edu	37	8	144698284	144698284	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr8:144698284C>T	uc003yza.2	-	2	289	c.253G>A	c.(253-255)Gac>Aac	p.D85N	TSTA3_uc003yzb.2_Missense_Mutation_p.D85N|TSTA3_uc011lko.1_Missense_Mutation_p.D85N	NM_003313	NP_003304	Q13630	FCL_HUMAN	Homo sapiens tissue specific transplantation antigen P35B (TSTA3), mRNA.	85					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|coenzyme binding|electron carrier activity|isomerase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	ACCCAGAAGTCCAAATTGTAT	0.562000														200			40		0	0	0.008740	0	0
DHX36	170506	broad.mit.edu	37	3	154042078	154042080	+	In_Frame_Del	DEL	CCG	-	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr3:154042078_154042080delCCG	uc003ezy.4	-	0	207_209	c.126_128delCGG	c.(124-129)ggcgga>gga	p.42_43GG>G	DHX36_uc010hvq.3_In_Frame_Del_p.42_43GG>G|DHX36_uc003ezz.4_In_Frame_Del_p.42_43GG>G	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA.	42	Gly-rich.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ACCACCCCCTCCGCCGCCGCCGC	0.700													---	188	---	---	7	---					
CEP44	80817	broad.mit.edu	37	4	175224891	175224892	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr4:175224891_175224892insA	uc010iro.2	+	4	580_581	c.275_276insA	c.(274-276)acafs	p.T92fs	CEP44_uc003its.2_Non-coding_Transcript|CEP44_uc003itr.3_Frame_Shift_Ins_p.T92fs	NM_001145314	NP_001138786	Q9C0F1	CEP44_HUMAN	Homo sapiens centrosomal protein 44kDa (CEP44), transcript variant 2, mRNA.	92						centrosome|midbody|spindle pole				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						CCAATTTTGACAAAAAAGCAGT	0.312													---	90	---	---	8	---					
HLA-G	3135	broad.mit.edu	37	6	29857106	29857106	+	Splice_Site	DEL	C	-	-	rs70987606		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr6:29857106delC	uc021ytv.1	+	4	629	c.620_splice	c.e4-1	p.D207_splice	HLA-G_uc021ytw.1_Splice_Site|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Splice_Site|HLA-G_uc010jro.3_3'UTR|HLA-J_uc021ytx.1_Splice_Site			P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.	207	Alpha-3.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TCCCGTCAGACCCCCCCCAAG	0.577													---	2	---	---	4	---					
TNXB	7148	broad.mit.edu	37	6	32063513	32063514	+	Frame_Shift_Del	DEL	AC	-	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr6:32063513_32063514delAC	uc003nzl.2	-	2	2318_2319	c.2116_2117delGT	c.(2116-2118)gtafs	p.V706fs		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	706	EGF-like 18.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAAGCCCTCTACACACACACAC	0.668													---	74	---	---	7	---					
TTK	7272	broad.mit.edu	37	6	80751896	80751897	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr6:80751896_80751897insA	uc003pjc.3	+	21	2662_2663	c.2551_2552insA	c.(2551-2553)gaafs	p.E851fs	TTK_uc003pjb.4_Frame_Shift_Ins_p.E850fs	NM_003318	NP_003309	P33981	TTK_HUMAN	Homo sapiens TTK protein kinase (TTK), transcript variant 1, mRNA.	851					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CAAGACTTTTGAAAAAAAAAGG	0.302													---	108	---	---	7	---					
TSNARE1	203062	broad.mit.edu	37	8	143310866	143310868	+	In_Frame_Del	DEL	GAT	-	-	rs142964918		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr8:143310866_143310868delGAT	uc003ywj.3	-	11	1561_1563	c.1522_1524delATC	c.(1522-1524)atcdel	p.I508del	TSNARE1_uc011lju.2_In_Frame_Del_p.I506del|TSNARE1_uc003ywk.3_In_Frame_Del_p.I507del	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	507					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGAGGTGGCGATGATGATGATG	0.512													---	210	---	---	8	---					
RUFY2	55680	broad.mit.edu	37	10	70156583	70156583	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr10:70156583delT	uc001job.3	-	3	784	c.457delA	c.(457-459)atgfs	p.M153fs	RUFY2_uc001jnz.1_Non-coding_Transcript|RUFY2_uc001joc.3_Intron|RUFY2_uc010qiw.2_Frame_Shift_Del_p.M60fs|RUFY2_uc001jod.1_Frame_Shift_Del_p.M118fs|RUFY2_uc009xpv.1_Frame_Shift_Del_p.M1fs|RUFY2_uc001joe.1_Frame_Shift_Del_p.M118fs	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 1, mRNA.	167	RUN.					nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TAATCGGCCATTTTTTTTTGC	0.398													---	131	---	---	7	---					
TRPM1	4308	broad.mit.edu	37	15	31342690	31342690	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr15:31342690delC	uc021sia.1	-	10	1724	c.1410delG	c.(1408-1410)gggfs	p.G470fs	TRPM1_uc010azy.3_Frame_Shift_Del_p.G338fs|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Frame_Shift_Del_p.G453fs|TRPM1_uc001zfm.3_Frame_Shift_Del_p.G431fs	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	431					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		tcttgcctttcccttttcctc	0.557													---	101	---	---	7	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	G	G	rs2981599		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr16:3119304_3119305insG	uc002ctq.3	+	5	748_749	c.653_654insG	c.(652-654)gacfs	p.D218fs	IL32_uc002ctn.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctk.3_Frame_Shift_Ins_p.D115fs|IL32_uc002cto.3_Frame_Shift_Ins_p.D218fs|IL32_uc010uwp.2_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.3_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctr.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.3_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.2_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.3_Frame_Shift_Ins_p.D163fs|IL32_uc021tbc.1_Non-coding_Transcript	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													---	447	---	---	11	---					
THOC1	9984	broad.mit.edu	37	18	214519	214520	+	Splice_Site	INS	-	TTG	TTG	rs142588910		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr18:214519_214520insTTG	uc002kkj.4	-	21	2120	c.2080_splice	c.e21+1		THOC1_uc002kkh.4_Splice_Site	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	Homo sapiens THO complex 1 (THOC1), mRNA.						RNA splicing|apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|signal transduction|transcription, DNA-dependent	THO complex part of transcription export complex|cytoplasm|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CTGTACAACAATTGTTATAAAA	0.351													---	10	---	---	16	---					
ZNF573	126231	broad.mit.edu	37	19	38229203	38229203	+	Splice_Site	DEL	C	-	-	rs74268405		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:38229203delC	uc002ohe.3	-	5	2257	c.2188_splice	c.e5+1		ZNF573_uc010efs.2_Splice_Site|ZNF573_uc002ohd.3_Splice_Site|ZNF573_uc002ohf.3_Splice_Site|ZNF573_uc002ohg.3_Splice_Site|ZNF573_uc021utv.1_Splice_Site	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TTTTTTTTTTCTTAATTTACC	0.328													---	74	---	---	9	---					
RSPH6A	81492	broad.mit.edu	37	19	46299147	46299149	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:46299147_46299149delCCT	uc002pdm.3	-	5	2303_2305	c.2132_2134delAGG	c.(2131-2136)gagggc>ggc	p.E711del	RSPH6A_uc002pdl.3_In_Frame_Del_p.E447del	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	711	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GTctcctcgccctcctcctcctc	0.557													---	274	---	---	13	---					
BC071797	0	broad.mit.edu	37	21	9769171	9769172	+	RNA	INS	-	TT	TT			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr21:9769171_9769172insTT	uc011abu.2	+	9		c.1146_1147insTT								Homo sapiens, clone IMAGE:4720764, mRNA.																		GAAATTGAATCATCAGTCTAGA	0.381													---	93	---	---	10	---					
SCAF4	57466	broad.mit.edu	37	21	33044257	33044259	+	In_Frame_Del	DEL	GCT	-	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr21:33044257_33044259delGCT	uc002ypd.2	-	19	3323_3325	c.2897_2899delAGC	c.(2896-2901)cagcca>cca	p.Q966del	SCAF4_uc002ype.2_In_Frame_Del_p.Q944del|SCAF4_uc010glu.2_In_Frame_Del_p.Q951del	NM_020706	NP_065757	O95104	SFR15_HUMAN	Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA.	966	Poly-Gln.					nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GATGGTGgtggctgctgctgctg	0.581													---	273	---	---	12	---					
YBEY	54059	broad.mit.edu	37	21	47707039	47707040	+	Splice_Site	INS	-	AAAAA	AAAAA	rs71318058	by1000genomes	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr21:47707039_47707040insAAAAA	uc002ziv.3	+	2	639	c.210_splice	c.e2+2	p.E70_splice	YBEY_uc002zit.1_Splice_Site_p.E70_splice|YBEY_uc002ziu.1_Splice_Site_p.E70_splice|YBEY_uc010gqh.3_Intron|YBEY_uc002ziw.3_Intron|YBEY_uc002zix.3_Splice_Site_p.E70_splice|YBEY_uc002ziy.3_Splice_Site_p.E70_splice|MCM3AP_uc002zir.1_5'Flank	NM_058181	NP_478061	P58557	YBEY_HUMAN	Homo sapiens ybeY metallopeptidase (putative) (YBEY), transcript variant 1, mRNA.	70							metal ion binding|metalloendopeptidase activity	p.?(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						TTTCATGAGGTAAAAAAAAAAT	0.351													---	34	---	---	7	---					
SREBF2	6721	broad.mit.edu	37	22	42262949	42262951	+	In_Frame_Del	DEL	GCA	-	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr22:42262949_42262951delGCA	uc003bbi.3	+	1	372_374	c.203_205delGCA	c.(202-207)ggcagc>ggc	p.S74del	bK250D10.C22.8_uc003bba.1_Intron	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	74	Gly/Pro/Ser-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ggcagcagtggcagcagcagcag	0.567													---	210	---	---	10	---					
GAGE2B	645037	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	TAT	TAT			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chrX:49208295_49208296insTAT	uc004dnv.4	+	1	140_141	c.24_25insTAT	c.(22-27)insTAT	p.9_10insY	GAGE2B_uc004dnl.4_Intron|GAGE2B_uc022bwc.1_Intron|GAGE2B_uc011mne.2_Intron|GAGE2B_uc004dnn.4_Intron|GAGE2B_uc011mnf.2_Intron|GAGE2B_uc004dnq.4_Intron|GAGE2B_uc004dnr.4_Intron|GAGE2B_uc004dnk.4_Intron|GAGE2B_uc004dno.4_Intron|GAGE2B_uc004dnp.4_Intron|GAGE2B_uc010njc.3_In_Frame_Ins_p.9_10insY|GAGE2B_uc004dnt.4_In_Frame_Ins_p.9_10insY|GAGE2B_uc004dnu.4_In_Frame_Ins_p.9_10insY	NM_001127212	NP_001091881			Homo sapiens G antigen 2A (GAGE2A), mRNA.																		GAAGATCGACCTATCGGCCTAG	0.465													---	22	---	---	17	---					
MAP7D3	79649	broad.mit.edu	37	X	135328309	135328310	+	Splice_Site	INS	-	A	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chrX:135328309_135328310insA	uc004ezt.3	-	3	391	c.170_splice	c.e3-1	p.V57_splice	MAP7D3_uc004ezs.3_Splice_Site_p.V57_splice|MAP7D3_uc011mwc.2_Splice_Site_p.V39_splice|MAP7D3_uc010nsa.2_Splice_Site_p.V56_splice	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	57						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CATCGATTACTAAAAAAAAAAG	0.307													---	79	---	---	7	---					
