Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
GATAD2B	57459	broad.mit.edu	37	1	153788813	153788813	+	Silent	SNP	G	G	C			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr1:153788813G>C	uc001fdb.4	-	6	1396	c.1152C>G	c.(1150-1152)gcC>gcG	p.A384A		NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	Homo sapiens GATA zinc finger domain containing 2B (GATAD2B), mRNA.	384	CR2.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACTCGCTATTGGCTGCACTAG	0.463000													7	83					0	0	1	0	0
DDX3Y	8653	broad.mit.edu	37	Y	15023762	15023762	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chrY:15023762A>G	uc004fsu.1	+	4	472	c.163A>G	c.(163-165)Aaa>Gaa	p.K55E	DDX3Y_uc010nwv.1_Missense_Mutation_p.K55E|DDX3Y_uc011naq.1_Missense_Mutation_p.K55E|DDX3Y_uc004fsv.2_Missense_Mutation_p.K55E|DDX3Y_uc010nww.1_Intron|DDX3Y_uc011nar.1_Missense_Mutation_p.K52E	NM_001122665	NP_004651	O15523	DDX3Y_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked (DDX3Y), transcript variant 1, mRNA.	55						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						ATTCCATGATAAAGACAGTTC	0.373000													4	27					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	19914062	19914062	+	Missense_Mutation	SNP	C	C	T	rs150041344	by1000genomes	TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:19914062C>T	uc010rdm.2	+	6	1283	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C	NAV2_uc001mpp.3_Missense_Mutation_p.R221C|NAV2_uc001mpr.4_Missense_Mutation_p.R285C|NAV2_uc021qew.1_Missense_Mutation_p.R285C	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	308						nucleus	ATP binding|helicase activity	p.R308C(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TAACAACCGACGCAGCCAGAG	0.547000													9	43					0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chrX:150156360G>A	uc004fep.3	+	4	668	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_uc004feq.3_3'UTR|HMGB3_uc004fer.3_Silent_p.E192E	NM_005342	NP_005333	O15347	HMGB3_HUMAN	Homo sapiens high mobility group box 3 (HMGB3), mRNA.	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(2)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000													3	28					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152522967	152522967	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr6:152522967G>A	uc021zhb.1	-	124	23360	c.23137C>T	c.(23137-23139)Cgt>Tgt	p.R7713C	SYNE1_uc003qos.4_Missense_Mutation_p.R2237C|SYNE1_uc003qot.4_Missense_Mutation_p.R7642C|SYNE1_uc003qou.4_Missense_Mutation_p.R7713C|SYNE1_uc003qor.4_Missense_Mutation_p.R613C	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	7713					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACCTTGCAACGCATTTGTTCT	0.448000										HNSCC(10;0.0054)			4	73					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72891714	72891714	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr7:72891714G>A	uc003tyc.3	-	6	2429	c.2077C>T	c.(2077-2079)Cgg>Tgg	p.R693W		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	693					ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				AAGCAGAGCCGCACCAGCTCT	0.473000													10	61					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26462763	26462763	+	Silent	SNP	A	A	G			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr10:26462763A>G	uc001isn.2	+	29	3930	c.3570A>G	c.(3568-3570)aaA>aaG	p.K1190K	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1190					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGACTCCAAAAAAAATGAATA	0.408000													8	39					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37382282	37382282	+	Missense_Mutation	SNP	C	C	T	rs146510671		TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr7:37382282C>T	uc022abv.1	-	1	723	c.13G>A	c.(13-15)Gcg>Acg	p.A5T	ELMO1_uc003tfk.2_Missense_Mutation_p.A5T|ELMO1_uc010kxg.2_Missense_Mutation_p.A5T	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	5					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.A5T(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ACGATGTCCGCGGGTGGCGGC	0.502000													4	148					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25667862	25667862	+	Silent	SNP	G	G	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr4:25667862G>A	uc003grr.3	+	4	573	c.492G>A	c.(490-492)acG>acA	p.T164T	SLC34A2_uc003grs.3_Silent_p.T163T|SLC34A2_uc010iev.3_Silent_p.T163T	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	164					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GCACCTCAACGTCCATCGTTG	0.557000			T	ROS1	NSCLC								3	71					0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66084240	66084240	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:66084240G>T	uc001ohm.1	-	0	276	c.259C>A	c.(259-261)Ctg>Atg	p.L87M		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	87	C-type lectin.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	p.L87M(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	TGCCGCTGCAGCCCGATCCAC	0.731000													7	14					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476458	140476458	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr5:140476458C>T	uc003lil.3	+	0	2222	c.2084C>T	c.(2083-2085)gCg>gTg	p.A695V	PCDHB2_uc003lim.1_Missense_Mutation_p.A356V	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	695					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGGTGGTGGCGTTGGCCTCG	0.697000													21	212					0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116729075	116729075	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:116729075G>A	uc001ppy.3	-	19	2824	c.2788C>T	c.(2788-2790)Ccc>Tcc	p.P930S	SIK3_uc001ppz.3_Missense_Mutation_p.P769S|SIK3_uc001pqa.3_Missense_Mutation_p.P870S|SIK3_uc001ppw.3_Missense_Mutation_p.P287S|SIK3_uc001ppx.3_Missense_Mutation_p.P308S|SIK3_uc001pqb.3_Missense_Mutation_p.P233S	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	930	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCTGTTGGGGGCAGCCGGATG	0.567000													3	42					0	0	1	0	0
ZNF395	55893	broad.mit.edu	37	8	28206326	28206326	+	Silent	SNP	C	C	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr8:28206326C>T	uc003xgq.3	-	9	1540	c.1452G>A	c.(1450-1452)aaG>aaA	p.K484K	ZNF395_uc003xgt.3_Silent_p.K484K|ZNF395_uc003xgr.3_Silent_p.K484K|ZNF395_uc003xgs.3_Silent_p.K484K	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	Homo sapiens zinc finger protein 395 (ZNF395), mRNA.	484					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		TGCGGCACTTCTTAGCCTCCC	0.627000													6	74					0	0	1	0	0
BCAR3	8412	broad.mit.edu	37	1	94054855	94054855	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr1:94054855C>T	uc001dpz.3	-	4	883	c.608G>A	c.(607-609)cGg>cAg	p.R203Q	BCAR3_uc001dqa.3_Missense_Mutation_p.R203Q|BCAR3_uc001dqb.3_Missense_Mutation_p.R203Q|BCAR3_uc001dpy.3_Missense_Mutation_p.R112Q|LOC100129046_uc009wdn.3_5'Flank	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	203	SH2.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CAGAACTGTCCGGTTGATTTT	0.582000													4	39					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141543453	141543453	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr4:141543453G>T	uc010ioj.3	-	20	3969	c.3697C>A	c.(3697-3699)Ccc>Acc	p.P1233T		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	1233						intracellular	Rab GTPase activator activity|calcium ion binding	p.P1233T(3)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ATGCACACGGGCTTGTCAAAG	0.592000													7	42					0	0	1	0	0
CDC14B	8555	broad.mit.edu	37	9	99296346	99296346	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr9:99296346G>C	uc004awj.3	-	8	1261	c.809C>G	c.(808-810)gCc>gGc	p.A270G	CDC14B_uc004awk.3_Missense_Mutation_p.A270G|CDC14B_uc004awl.3_Non-coding_Transcript|CDC14B_uc004awi.3_Missense_Mutation_p.A233G	NM_033331	NP_201588	O60729	CC14B_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog B (S. cerevisiae) (CDC14B), transcript variant 2, mRNA.	270	B.				DNA repair|G2/M transition DNA damage checkpoint|activation of anaphase-promoting complex activity	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				AAAGCGTTTGGCATCATACAT	0.388000													5	35					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40847632	40847632	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr17:40847632G>T	uc002iay.3	+	18	3302	c.3086G>T	c.(3085-3087)aGc>aTc	p.S1029I	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	1029					axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding	p.S1029I(2)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CACATGCTGAGCCGGCCAGTG	0.617000													9	69					0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7727541	7727541	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr6:7727541A>T	uc003mxu.4	+	0	531	c.353A>T	c.(352-354)cAg>cTg	p.Q118L		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	118					BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	p.Q118L(2)|p.Q118delQ(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					cagcagcagcagcTGCCTCGC	0.731000													2	11					0	0	1	0	0
LHX8	431707	broad.mit.edu	37	1	75609601	75609601	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr1:75609601G>T	uc001dgo.3	+	6	1346	c.682G>T	c.(682-684)Gct>Tct	p.A228S	LHX8_uc021oou.1_Missense_Mutation_p.A228S|LHX8_uc001dgq.3_Missense_Mutation_p.A167S	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	Homo sapiens LIM homeobox 8 (LHX8), transcript variant 1, mRNA.	228						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R227S(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						AGCAAAAAGAGCTCGGACCAG	0.398000													7	37					0	0	1	0	0
SLC30A9	10463	broad.mit.edu	37	4	42072553	42072553	+	Silent	SNP	G	G	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr4:42072553G>A	uc003gwl.3	+	14	1409	c.1263G>A	c.(1261-1263)ctG>ctA	p.L421L	SLC30A9_uc011byx.2_Silent_p.L181L	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 9 (SLC30A9), mRNA.	421					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCAATCCACTGTATGACAGCC	0.398000													23	110					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588840	247588840	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr1:247588840C>T	uc001icr.3	+	4	2233	c.2095C>T	c.(2095-2097)Cga>Tga	p.R699*	NLRP3_uc001ics.3_Nonsense_Mutation_p.R699*|NLRP3_uc001icu.3_Nonsense_Mutation_p.R699*|NLRP3_uc001icw.3_Nonsense_Mutation_p.R699*|NLRP3_uc001icv.3_Nonsense_Mutation_p.R699*|NLRP3_uc010pyw.2_Nonsense_Mutation_p.R697*|NLRP3_uc001ict.1_Nonsense_Mutation_p.R697*	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	699					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AAAGGAAGGCCGACACCTTGA	0.532000													5	43					0	0	1	0	0
PLAC8	51316	broad.mit.edu	37	4	84026088	84026088	+	Silent	SNP	G	G	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr4:84026088G>A	uc003hoe.3	-	2	365	c.204C>T	c.(202-204)gtC>gtT	p.V68V	PLAC8_uc011cco.2_Silent_p.V68V|PLAC8_uc010ijy.3_Non-coding_Transcript|PLAC8_uc010ijz.3_Intron|PLAC8_uc003hod.2_Silent_p.V68V	NM_001130716	NP_057703	Q9NZF1	PLAC8_HUMAN	Homo sapiens placenta-specific 8 (PLAC8), transcript variant 1, mRNA.	68										large_intestine(2)|lung(3)|ovary(1)	6		Hepatocellular(203;0.114)				TCCTCATTGCGACGCTTGTTC	0.443000													8	95					0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112185091	112185091	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr9:112185091A>C	uc004bed.2	-	12	1155	c.1043T>G	c.(1042-1044)aTg>aGg	p.M348R	PTPN3_uc004beb.2_Missense_Mutation_p.M217R|PTPN3_uc004bec.2_Intron|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Intron|PTPN3_uc011lwh.1_Intron|PTPN3_uc011lwe.1_Missense_Mutation_p.M61R|PTPN3_uc011lwf.1_Intron	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	348					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GTTCCACACCATCCCGCCAAT	0.463000													26	194					0	0	1	0	0
PICALM	8301	broad.mit.edu	37	11	85725995	85725995	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:85725995A>G	uc001pbm.3	-	4	781	c.464T>C	c.(463-465)gTt>gCt	p.V155A	PICALM_uc001pbl.3_Missense_Mutation_p.V155A|PICALM_uc001pbn.3_Missense_Mutation_p.V155A|PICALM_uc010rtl.2_Missense_Mutation_p.V104A	NM_007166	NP_009097	Q13492	PICAL_HUMAN	Homo sapiens phosphatidylinositol binding clathrin assembly protein (PICALM), transcript variant 1, mRNA.	155					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	Golgi apparatus|clathrin coat|clathrin-coated vesicle|coated pit|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TGTTCTCATAACTCCATCAGC	0.333000			T	"""MLLT10, MLL"""	"""TALL, AML, """								3	13					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25888046	25888046	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr10:25888046C>T	uc001isj.3	+	10	3551	c.3491C>T	c.(3490-3492)cCt>cTt	p.P1164L	GPR158_uc001isk.3_Missense_Mutation_p.P539L	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	1164						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTCCAGCAACCTTTAACATCA	0.433000													5	41					0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113753974	113753974	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr3:113753974G>A	uc003eax.3	-	5	763	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	KIAA1407_uc011bin.1_Non-coding_Transcript|KIAA1407_uc011bio.1_Missense_Mutation_p.R184C|KIAA1407_uc011bip.1_Missense_Mutation_p.R193C	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	206										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TCTTTCTCACGTCTTAAGCGA	0.383000													6	33					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13828770	13828770	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr12:13828770T>A	uc001rbt.2	-	3	1213	c.1034A>T	c.(1033-1035)gAg>gTg	p.E345V		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	345					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATTCCTCCCCTCAAAAGTGAC	0.398000													8	68					0	0	1	0	0
CTSD	1509	broad.mit.edu	37	11	1780798	1780798	+	Silent	SNP	G	G	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:1780798G>A	uc001luc.2	-	2	433	c.300C>T	c.(298-300)tcC>tcT	p.S100S	MOB2_uc001ltq.2_Intron	NM_001909	NP_001900	P07339	CATD_HUMAN	Homo sapiens cathepsin D (CTSD), mRNA.	100					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACAGGTTGGAGGAGCCCGTGT	0.652000													3	61					0	0	1	0	0
MAP3K11	4296	broad.mit.edu	37	11	65375265	65375265	+	Silent	SNP	G	G	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:65375265G>A	uc001oew.3	-	3	1585	c.1092C>T	c.(1090-1092)caC>caT	p.H364H	MAP3K11_uc001oev.3_5'Flank|MAP3K11_uc010rol.2_Silent_p.H107H|MAP3K11_uc001oex.1_Intron	NM_002419	NP_002410	Q16584	M3K11_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA.	364	Protein kinase.				G1 phase of mitotic cell cycle|activation of JUN kinase activity|cell proliferation|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CGGGCCTGCGGTGGGGGTCCT	0.652000													9	49					0	0	1	0	0
RBL2	5934	broad.mit.edu	37	16	53504028	53504028	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr16:53504028A>G	uc002ehi.4	+	14	2294	c.2176A>G	c.(2176-2178)Act>Gct	p.T726A	RBL2_uc010vgv.1_Missense_Mutation_p.T652A|RBL2_uc002ehj.3_Missense_Mutation_p.T436A|RBL2_uc010vgw.2_Intron	NM_005611	NP_005602	Q08999	RBL2_HUMAN	Homo sapiens retinoblastoma-like 2 (p130) (RBL2), mRNA.	726	Pocket; binds E1A.|Spacer.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCCTGGACAGACTTTGGTCAC	0.547000													10	42					0	0	1	0	0
KRTAP19-6	337973	broad.mit.edu	37	21	31914086	31914086	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr21:31914086A>T	uc002yok.1	-	0	96	c.67T>A	c.(67-69)Tat>Aat	p.Y23N		NM_181612	NP_853643	Q3LI70	KR196_HUMAN	Homo sapiens keratin associated protein 19-6 (KRTAP19-6), mRNA.	23						intermediate filament		p.Y23Y(1)		breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						CCACAGCCATAGCCCAGACCA	0.522000													11	160					0	0	1	0	0
STL	7955	broad.mit.edu	37	6	125233353	125233353	+	RNA	SNP	T	T	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr6:125233353T>A	uc003pzq.3	-	6		c.1381A>T								Homo sapiens six-twelve leukemia (STL), non-coding RNA.																		TGCCAGACACTCTATATTTGC	0.363000			T	ETV6	B-ALL								8	32					0	0	1	0	0
C9orf96	169436	broad.mit.edu	37	9	136260870	136260870	+	Silent	SNP	C	C	G			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr9:136260870C>G	uc004cdk.3	+	8	907	c.846C>G	c.(844-846)ccC>ccG	p.P282P	C9orf96_uc004cdl.3_Non-coding_Transcript	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	Homo sapiens chromosome 9 open reading frame 96 (C9orf96), mRNA.	282	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AGATCGACCCCTCGGATCGAA	0.493000													21	51					0	0	1	0	0
PDE3B	5140	broad.mit.edu	37	11	14808089	14808089	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:14808089C>T	uc001mln.3	+	2	1489	c.1136C>T	c.(1135-1137)tCt>tTt	p.S379F	PDE3B_uc010rcr.2_Intron	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA.	379					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	Golgi apparatus|cytosol|endoplasmic reticulum|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTCATTTCCTCTCTACGGAGT	0.448000													25	117					0	0	1	0	0
SCNN1D	6339	broad.mit.edu	37	1	1222261	1222262	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr1:1222261_1222262insC	uc001adt.1	+	7	1251_1252	c.1025_1026insC	c.(1024-1026)gtcfs	p.V342fs	SCNN1D_uc001adu.1_Frame_Shift_Ins_p.V178fs|SCNN1D_uc001adw.2_Frame_Shift_Ins_p.V244fs|SCNN1D_uc001adv.2_Frame_Shift_Ins_p.V178fs|SCNN1D_uc001adx.2_5'UTR	NM_001130413	NP_001123885			Homo sapiens sodium channel, nonvoltage-gated 1, delta (SCNN1D), transcript variant 1, mRNA.											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		TCCGCCACTGTCCCCCGCCACG	0.644													7	153	---	---	---	---					
EPHB2	2048	broad.mit.edu	37	1	23240245	23240246	+	Frame_Shift_Ins	INS	-	A	A	rs56871920		TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr1:23240245_23240246insA	uc009vqj.1	+	16	3195_3196	c.3050_3051insA	c.(3049-3051)ggafs	p.G1017fs	EPHB2_uc001bge.3_3'UTR|EPHB2_uc001bgf.3_3'UTR|EPHB2_uc010odu.2_3'UTR	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	1017					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TCAAACGACGGAAAAAAAAAGG	0.500													3	5	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27023451	27023453	+	In_Frame_Del	DEL	GCG	-	-			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr1:27023451_27023453delGCG	uc001bmv.1	+	0	930_932	c.557_559delGCG	c.(556-561)agcggc>agc	p.G191del	ARID1A_uc001bmt.1_In_Frame_Del_p.G191del|ARID1A_uc001bmu.1_In_Frame_Del_p.G191del	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	191					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCGCTGCAGAGCGGCGGCGGCGG	0.709			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								2	4	---	---	---	---					
TAPT1	202018	broad.mit.edu	37	4	16189980	16189981	+	Splice_Site	INS	-	A	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr4:16189980_16189981insA	uc010ied.1	-	5	694	c.613_splice	c.e5-1	p.V205_splice	TAPT1_uc011bxd.1_Splice_Site|TAPT1_uc011bxe.1_Splice_Site_p.V94_splice	NM_153365	NP_699196	Q6NXT6	TAPT1_HUMAN	Homo sapiens transmembrane anterior posterior transformation 1 (TAPT1), mRNA.	205						integral to membrane	growth hormone-releasing hormone receptor activity			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						ATCAGCTACCTAAAAAAAAAAA	0.317													2	4	---	---	---	---					
