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
GLT25D2	23127	broad.mit.edu	37	1	183938503	183938503	+	Silent	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:183938503C>T	uc001gqr.3	-	4	1104	c.732G>A	c.(730-732)agG>agA	p.R244R	GLT25D2_uc010poj.1_Silent_p.R244R|GLT25D2_uc001gqs.3_Silent_p.R124R	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 2 (GLT25D2), mRNA.	244					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|skin(2)	31						AGGCCTCCTTCCTGAGGTCAA	0.537000													42	128					0	0	1	0	0
IRX6	79190	broad.mit.edu	37	16	55362679	55362679	+	Silent	SNP	G	G	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr16:55362679G>A	uc002ehy.3	+	4	1322	c.789G>A	c.(787-789)gaG>gaA	p.E263E	IRX6_uc002ehx.3_Silent_p.E263E	NM_024335	NP_077311	P78412	IRX6_HUMAN	Homo sapiens iroquois homeobox 6 (IRX6), mRNA.	263						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						aggaagaggaggaggaggagg	0.627000													3	41					0	0	1	0	0
OR1D4	653166	broad.mit.edu	37	17	3144347	3144347	+	Silent	SNP	C	C	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr17:3144347C>A	uc002fvf.3	+	0	378	c.378C>A	c.(376-378)atC>atA	p.I126I						Homo sapiens olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene) (OR1D4), non-coding RNA.																		ATGTGGCCATCTGCTGCCCCC	0.577000													6	53					5.9392e-07	6.43934e-07	1	1	0
ATP6V0A2	23545	broad.mit.edu	37	12	124228804	124228804	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr12:124228804G>A	uc001ufr.3	+	10	1494	c.1246G>A	c.(1246-1248)Gga>Aga	p.G416R		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a2 (ATP6V0A2), mRNA.	416					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TGGAGACTTCGGACATGGCTT	0.373000													28	82					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38464022	38464022	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:38464022T>G	uc003jlc.2	+	22	3334	c.2988T>G	c.(2986-2988)gaT>gaG	p.D996E	EGFLAM_uc003jlb.2_Missense_Mutation_p.D988E|EGFLAM_uc003jle.2_Missense_Mutation_p.D754E|EGFLAM_uc003jlf.2_Missense_Mutation_p.D354E|EGFLAM_uc003jlg.2_Missense_Mutation_p.D131E|EGFLAM_uc003jlh.2_Missense_Mutation_p.D78E	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	996	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGTCCACCGATTACCACATTT	0.517000													3	58					0	0	1	0	0
B3GNT3	10331	broad.mit.edu	37	19	17922692	17922692	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr19:17922692C>A	uc002nhl.1	+	2	1027	c.880C>A	c.(880-882)Ccc>Acc	p.P294T	B3GNT3_uc010ebd.1_Missense_Mutation_p.P294T|B3GNT3_uc010ebe.1_Missense_Mutation_p.P294T	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	294					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GGACATCTTCCCCATTGATGA	0.622000													15	142					2.94398e-08	3.29598e-08	1	1	0
CTAGE11P	647288	broad.mit.edu	37	13	75814384	75814384	+	Silent	SNP	C	C	T	rs1888257	by1000genomes	TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr13:75814384C>T	uc010ths.2	-	0	134	c.93G>A	c.(91-93)acG>acA	p.T31T						Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA.																		TCGAATCTGCCGTCATACTCT	0.507000													3	48					0	0	1	0	0
MMP8	4317	broad.mit.edu	37	11	102587093	102587093	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr11:102587093G>T	uc001phe.2	-	5	941	c.842C>A	c.(841-843)cCc>cAc	p.P281H	MMP8_uc010rut.1_Missense_Mutation_p.P216H|MMP8_uc010ruu.1_Missense_Mutation_p.P258H	NM_002424	NP_002415	P22894	MMP8_HUMAN	Homo sapiens matrix metallopeptidase 8 (neutrophil collagenase) (MMP8), mRNA.	281					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		TGTCAAACTGGGGTCACAGGG	0.363000													33	60					1.4374e-25	1.8278e-25	1	1	0
POM121L12	285877	broad.mit.edu	37	7	53103578	53103578	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr7:53103578G>T	uc003tpz.3	+	0	230	c.214G>T	c.(214-216)Gtg>Ttg	p.V72L		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	72										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGGGCGCCCGGTGCCCAGCAC	0.711000													12	49					3.87621e-19	4.81023e-19	1	1	0
ATP9A	10079	broad.mit.edu	37	20	50224091	50224091	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr20:50224091T>C	uc002xwg.1	-	25	2778	c.2778A>G	c.(2776-2778)atA>atG	p.I926M	ATP9A_uc010gih.1_Missense_Mutation_p.I790M|ATP9A_uc002xwf.1_Missense_Mutation_p.I98M	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	926					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCAAAACCCATATTAAGAATG	0.498000													5	45					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155254316	155254316	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr4:155254316C>A	uc003inw.2	-	8	1547	c.1547G>T	c.(1546-1548)cGg>cTg	p.R516L	DCHS2_uc003inx.2_Missense_Mutation_p.R1015L	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	516	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GATGGAGTACCGGATGAGTCC	0.647000													13	29					7.03913e-09	8.05589e-09	1	1	0
SHANK2	22941	broad.mit.edu	37	11	70319315	70319315	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr11:70319315G>C	uc001oqc.3	-	21	5123	c.5011C>G	c.(5011-5013)Ctc>Gtc	p.L1671V	SHANK2_uc010rqn.2_Missense_Mutation_p.L1147V|SHANK2_uc001opz.3_Missense_Mutation_p.L1142V|BC127192_uc009ysn.1_Missense_Mutation_p.R72T|SHANK2_uc001opy.3_Missense_Mutation_p.L73V|SHANK2_uc021qmr.1_Non-coding_Transcript	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1358					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding	p.L1142V(1)|p.L1738V(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACATCTGAGAGAGCGGGAGAA	0.602000													31	60					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28935112	28935112	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr18:28935112G>T	uc002kwp.3	+	14	3165	c.2953G>T	c.(2953-2955)Ggt>Tgt	p.G985C	DSG1_uc010xbp.2_Missense_Mutation_p.G344C	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	985	Gly/Ser-rich.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CACCAGCATGGGTGCTGGGAG	0.602000													33	81					3.90053e-15	4.78279e-15	1	1	0
abParts	0	broad.mit.edu	37	22	22664156	22664156	+	RNA	SNP	C	C	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr22:22664156C>A	uc021wml.1	+	31		c.2598C>A			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		GTGATTCGAACTGTCAGTGGG	0.473000													6	64					3.86212e-05	4.05917e-05	1	1	0
WDR16	146845	broad.mit.edu	37	17	9546373	9546373	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr17:9546373A>G	uc010coc.3	+	14	1980	c.1751A>G	c.(1750-1752)tAt>tGt	p.Y584C	USP43_uc002gma.4_5'Flank|USP43_uc010cod.3_5'Flank|USP43_uc010vva.2_5'Flank|WDR16_uc002gly.3_Missense_Mutation_p.Y574C|WDR16_uc002glz.3_Missense_Mutation_p.Y506C			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	574						cytoplasm|intracellular membrane-bounded organelle	protein binding	p.G583E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						GTTTGGGATTATAATGAGGGT	0.433000													8	34					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150943010	150943010	+	Silent	SNP	A	A	G			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:150943010A>G	uc003lue.4	-	1	3463	c.3450T>C	c.(3448-3450)gcT>gcC	p.A1150A	FAT2_uc010jhx.1_Silent_p.A1150A	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1150	Cadherin 10.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCCACGGGAGCATCCTCCT	0.542000													9	95					0	0	1	0	0
SBK1	388228	broad.mit.edu	37	16	28331420	28331420	+	Silent	SNP	G	G	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr16:28331420G>C	uc002dpd.3	+	3	1242	c.453G>C	c.(451-453)gtG>gtC	p.V151V		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA.	151	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						AGGACACGGTGAAGCGCTGTG	0.716000													3	7					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245862231	245862231	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:245862231C>T	uc001ibf.1	+	13	6510	c.6070C>T	c.(6070-6072)Cgc>Tgc	p.R2024C		NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	2024					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.H2023Q(1)|p.R2024H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TCTGGAACACCGCCAGCAGAG	0.567000													18	49					0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36046429	36046429	+	Silent	SNP	G	G	C	rs150964145	byFrequency	TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr19:36046429G>C	uc002oal.1	-	13	2099	c.2070C>G	c.(2068-2070)gtC>gtG	p.V690V	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	690					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GCAGGGCCTCGACCAGTTCCG	0.657000													4	59					0	0	1	0	0
HNF1B	6928	broad.mit.edu	37	17	36093613	36093613	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr17:36093613G>T	uc002hok.4	-	2	967	c.746C>A	c.(745-747)gCc>gAc	p.A249D	HNF1B_uc021tvu.1_Missense_Mutation_p.A19D|HNF1B_uc010wdi.2_Missense_Mutation_p.A223D|HNF1B_uc021tvv.1_Missense_Mutation_p.A249D|HNF1B_uc021tvw.1_Missense_Mutation_p.A223D|HNF1B_uc010cve.1_Missense_Mutation_p.A57D	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	249					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CCGATCGTAGGCCTGGTACAA	0.582000													20	118					1.10923e-09	1.2983e-09	1	1	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr13:115047559C>T	uc001vup.3	+	1	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_uc010tkn.2_Silent_p.L91L|UPF3A_uc001vuq.3_Silent_p.L91L|UPF3A_uc001vur.3_Non-coding_Transcript	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog A (yeast) (UPF3A), transcript variant 1, mRNA.	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.L91L(16)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731000													3	3					0	0	1	0	0
OR9K2	441639	broad.mit.edu	37	12	55524375	55524375	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr12:55524375G>A	uc010spe.2	+	0	823	c.823G>A	c.(823-825)Gtg>Atg	p.V275M		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						AGTTGTGAGTGTGCTGTATGG	0.438000													25	115					0	0	1	0	0
C2orf40	84417	broad.mit.edu	37	2	106690448	106690448	+	Silent	SNP	C	C	G			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:106690448C>G	uc010fjf.3	+	2	342	c.234C>G	c.(232-234)ccC>ccG	p.P78P		NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN	Homo sapiens chromosome 2 open reading frame 40 (C2orf40), mRNA.	78						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						GGACTCGGCCCGAGGTGCAGC	0.577000													34	79					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779214	36779214	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr3:36779214G>C	uc003cgi.2	-	1	1428	c.937C>G	c.(937-939)Ctc>Gtc	p.L313V		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	313						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCATCTCTGAGAGTCATCCTT	0.582000													59	71					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625971	29625971	+	Missense_Mutation	SNP	C	C	A	rs145033899		TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr20:29625971C>A	uc010ztl.1	+	1	157	c.125C>A	c.(124-126)cCa>cAa	p.P42Q	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A41T(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CAATGGGAACCAGTCTTTCAA	0.328000													4	95					2.7689e-08	3.13403e-08	1	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85521757	85521757	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr12:85521757A>T	uc001tac.3	+	17	4266	c.4155A>T	c.(4153-4155)agA>agT	p.R1385S		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1385										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAGGAAAAAGAGAAAATATTG	0.353000													11	78					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170060647	170060647	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:170060647C>T	uc002ues.3	-	41	8063	c.7850G>A	c.(7849-7851)cGa>cAa	p.R2617Q		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2617					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.R2617L(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTTGTTAGCTCGGTAAATTCT	0.443000													101	180					0	0	1	0	0
OR51A2	401667	broad.mit.edu	37	11	4976474	4976474	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr11:4976474A>T	uc010qyt.2	-	0	470	c.470T>A	c.(469-471)cTg>cAg	p.L157Q		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L157V(1)|p.L157L(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGAAGAACCAGGAGCATGCT	0.438000													16	98					0	0	1	0	0
GNL3	26354	broad.mit.edu	37	3	52727062	52727062	+	Splice_Site	SNP	G	G	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr3:52727062G>A	uc003dfd.3	+	10	1217	c.1044_splice	c.e10+1	p.Q348_splice	GNL3_uc003dfe.3_Splice_Site_p.Q336_splice|GNL3_uc003dff.3_Splice_Site_p.Q336_splice	NM_014366	NP_996562	Q9BVP2	GNL3_HUMAN	Homo sapiens guanine nucleotide binding protein-like 3 (nucleolar) (GNL3), transcript variant 1, mRNA.	348	Intermediate (By similarity).				regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		ATGCTCGACAGGTAAAAGGAC	0.463000													3	33					0	0	1	0	0
CCDC110	256309	broad.mit.edu	37	4	186380589	186380589	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr4:186380589G>C	uc003ixu.4	-	5	1228	c.1152C>G	c.(1150-1152)ttC>ttG	p.F384L	CCDC110_uc003ixv.4_Missense_Mutation_p.F347L|CCDC110_uc011ckt.1_Missense_Mutation_p.F384L	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.	384						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTTGGTCGAGGAAGGACAGTG	0.308000													25	88					0	0	1	0	0
ZNF200	7752	broad.mit.edu	37	16	3282875	3282875	+	Silent	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr16:3282875C>T	uc002cuj.2	-	2	929	c.297G>A	c.(295-297)aaG>aaA	p.K99K	ZNF200_uc002cum.3_Silent_p.K99K|ZNF200_uc002cuk.2_Silent_p.K99K|ZNF200_uc010bti.2_Silent_p.K99K|ZNF200_uc002cui.2_Silent_p.K99K|ZNF200_uc002cul.3_Silent_p.K99K	NM_003454	NP_932354	P98182	ZN200_HUMAN	Homo sapiens zinc finger protein 200 (ZNF200), transcript variant 1, mRNA.	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						TCTCTTGTTCCTTTTGGACTC	0.478000													12	32					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167288988	167288988	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:167288988C>T	uc002udu.2	-	14	2562	c.2432G>A	c.(2431-2433)aGc>aAc	p.S811N	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	811					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TGTGCCACTGCTTTTTTCCTT	0.388000													44	112					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004441	248004441	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:248004441C>A	uc001idn.1	-	0	758	c.758G>T	c.(757-759)gGg>gTg	p.G253V		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GATCATGGTCCCGTAGTAGAG	0.498000													28	74					2.28855e-06	2.4301e-06	1	1	0
FAM47C	442444	broad.mit.edu	37	X	37027101	37027101	+	Silent	SNP	G	G	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chrX:37027101G>A	uc004ddl.2	+	0	670	c.618G>A	c.(616-618)ccG>ccA	p.P206P		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	206								p.P206P(3)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCAAGACTCCGGTGTCCAGTC	0.652000													23	63					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23085199	23085199	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr16:23085199A>G	uc002dll.3	-	13	2179	c.2179T>C	c.(2179-2181)Tac>Cac	p.Y727H	USP31_uc002dlk.3_5'Flank|USP31_uc010vca.2_Missense_Mutation_p.Y30H|USP31_uc010bxm.3_Missense_Mutation_p.Y15H	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	727					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TTCTTACAGTACGCTGCCAAA	0.542000													6	26					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43822162	43822162	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr12:43822162T>A	uc010skx.2	-	25	3827	c.3827A>T	c.(3826-3828)cAg>cTg	p.Q1276L	ADAMTS20_uc001rno.1_Missense_Mutation_p.Q394L|ADAMTS20_uc001rnp.1_Missense_Mutation_p.Q430L	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1276						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATAGCTTGGCTGCACAGGGGA	0.468000													4	74					0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43519344	43519344	+	Silent	SNP	A	A	G			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr19:43519344A>G	uc002ovm.1	-	3	995	c.888T>C	c.(886-888)aaT>aaC	p.N296N	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Silent_p.N174N|PSG11_uc002ovo.1_Silent_p.N174N	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	296	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CATAGAGCCCATTATGCTTTG	0.463000													36	106					0	0	1	0	0
TDRD10	126668	broad.mit.edu	37	1	154516509	154516509	+	Missense_Mutation	SNP	G	G	A	rs143192137	byFrequency	TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:154516509G>A	uc009wow.3	+	8	1412	c.574G>A	c.(574-576)Gtc>Atc	p.V192I	TDRD10_uc001ffd.3_Missense_Mutation_p.V192I|TDRD10_uc001ffe.3_Missense_Mutation_p.V113I	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	192							RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CATCCATAGCGTCCGTGGGGA	0.612000													47	126					0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127797356	127797356	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr6:127797356G>C	uc003qbd.3	-	5	2680	c.1815C>G	c.(1813-1815)atC>atG	p.I605M	KIAA0408_uc003qbc.3_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	605						integral to membrane											CCAGTTCGACGATTTTCCTGC	0.607000													15	162					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93065307	93065307	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr7:93065307C>T	uc003umv.2	-	13	1508	c.1208G>A	c.(1207-1209)gGg>gAg	p.G403E	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.G369E|CALCR_uc003umw.2_Missense_Mutation_p.G369E	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	385					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ATATATCTTCCCAAGCATCTT	0.453000													8	46					0	0	1	0	0
BC101079	0	broad.mit.edu	37	15	102291827	102291827	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr15:102291827G>C	uc010usj.2	+	2	194	c.135G>C	c.(133-135)caG>caC	p.Q45H	DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.																		AAACCACCCAGAACCTGGTGG	0.537000													3	69					0	0	1	0	0
SSTR4	6754	broad.mit.edu	37	20	23016128	23016128	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr20:23016128C>T	uc002wsr.2	+	0	72	c.8C>T	c.(7-9)gCc>gTc	p.A3V		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	3					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GTCATGAGCGCCCCCTCGACG	0.786000													5	12					0	0	1	0	0
SPDYE5	442590	broad.mit.edu	37	7	75130895	75130895	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr7:75130895C>T	uc011kfy.2	+	5	906	c.770C>T	c.(769-771)cCg>cTg	p.P257L	DQ601342_uc022agh.1_5'Flank	NM_001099435	NP_001092905	A6NIY4	SPDE5_HUMAN	Homo sapiens speedy homolog E5 (Xenopus laevis) (SPDYE5), mRNA.	257	Arg-rich.																TCCATGAACCCGAGGGCCAGG	0.592000													6	284					0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17473039	17473039	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr22:17473039G>A	uc002zlw.3	-	1	310	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	GAB4_uc010gqs.1_Missense_Mutation_p.R68W	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	68	PH.							p.R68Q(1)|p.L67M(1)|p.R68L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGGCCCCTCCGCAGGATAAAC	0.493000													50	93					0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170219060	170219060	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr3:170219060C>A	uc003fgz.2	-	2	695	c.379G>T	c.(379-381)Gtt>Ttt	p.V127F	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	127						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AATTCCCCAACAGTGACATAG	0.527000													6	42					0.0293803	0.0299621	1	1	0
SYTL4	94121	broad.mit.edu	37	X	99931048	99931048	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chrX:99931048C>A	uc004egd.4	-	18	2349	c.1993G>T	c.(1993-1995)Gcc>Tcc	p.A665S	SYTL4_uc004egc.3_Missense_Mutation_p.A96S|SYTL4_uc010nnb.3_Missense_Mutation_p.A337S|SYTL4_uc010nnc.3_Missense_Mutation_p.A665S|SYTL4_uc004ege.4_Missense_Mutation_p.A665S|SYTL4_uc004egf.4_Missense_Mutation_p.A665S	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	665					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCTGCTTGGCCATTGAGGAA	0.552000													5	17					0.0215528	0.0221993	1	1	0
FLNC	2318	broad.mit.edu	37	7	128494111	128494111	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr7:128494111C>T	uc003vnz.4	+	39	6777	c.6568C>T	c.(6568-6570)Cgc>Tgc	p.R2190C	FLNC_uc003voa.4_Missense_Mutation_p.R2157C	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2190	Intradomain insert.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCGCACGGAGCGCACGGAGAT	0.657000													18	32					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104341582	104341582	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr9:104341582C>G	uc004bbp.2	-	6	3428	c.2827G>C	c.(2827-2829)Ggt>Cgt	p.G943R	GRIN3A_uc004bbo.2_Missense_Mutation_p.G18R|GRIN3A_uc004bbq.1_Missense_Mutation_p.G943R	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	943					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	ATGGACAGACCAAATCCAATG	0.448000													4	62					0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90534221	90534221	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr9:90534221A>T	uc010mqi.3	+	1	270	c.241A>T	c.(241-243)Agg>Tgg	p.R81W	FAM75C1_uc004apq.4_Missense_Mutation_p.R64W	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		AACAGGGCGGAGGGGGAGGCC	0.572000													35	111					0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr19:12501446T>C	uc010dyt.3	-	3	1970	c.1766A>G	c.(1765-1767)gAa>gGa	p.E589G	ZNF799_uc002mts.4_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413000													3	48					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578458	7578458	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr17:7578458G>T	uc002gim.2	-	4	666	c.472C>A	c.(472-474)Cgc>Agc	p.R158S	TP53_uc002gig.1_Missense_Mutation_p.R158S|TP53_uc002gih.3_Missense_Mutation_p.R158S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R26S|TP53_uc010cnf.1_Missense_Mutation_p.R26S|TP53_uc002gii.1_Missense_Mutation_p.R26S|TP53_uc010cni.1_Missense_Mutation_p.R158S|TP53_uc010cnh.1_Missense_Mutation_p.R158S|TP53_uc002gij.2_Missense_Mutation_p.R158S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R65S|TP53_uc002gio.2_Missense_Mutation_p.R26S|TP53_uc010vug.2_Missense_Mutation_p.R119S	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V157F(151)|p.R158H(66)|p.R158L(61)|p.R158C(34)|p.R158G(28)|p.R158fs*12(12)|p.V157I(10)|p.R158P(9)|p.R158fs*11(9)|p.V157D(8)|p.R158fs(8)|p.0?(8)|p.V157G(7)|p.V157L(6)|p.R158R(6)|p.V157V(5)|p.R158_A159delRA(4)|p.R156_I162delRVRAMAI(4)|p.V157fs*9(4)|p.R158_A159insX(4)|p.V157fs*22(4)|p.V157fs*13(3)|p.V157_C176del20(2)|p.R65fs(2)|p.R156_A161delRVRAMA(2)|p.R158F(2)|p.P151_V173del23(2)|p.R158fs*24(2)|p.R65G(2)|p.R156_R158delRVR(2)|p.V157del(2)|p.R26G(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.V157_M160delVRAM(2)|p.V157_R158delVR(2)|p.T155_A161delTRVRAMA(2)|p.R26fs(2)|p.V157_I162delVRAMAI(2)|p.V157fs*21(2)|p.R158fs*8(2)|p.V157fs*24(2)|p.R156_V157insV(1)|p.R156fs*18(1)|p.V157A(1)|p.R26fs*11(1)|p.R156_V157del(1)|p.R158_A159insXX(1)|p.R156fs*12(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R158_A161del(1)|p.R156fs*20(1)|p.V157fs*23(1)|p.V157fs*25(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)		GCCATGGCGCGGACGCGGGTG	0.622000		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)			31	72					1.67305e-13	2.02734e-13	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140214298	140214298	+	Silent	SNP	G	G	T	rs61730625		TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:140214298G>T	uc003lhq.2	+	0	330	c.330G>T	c.(328-330)gtG>gtT	p.V110V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Silent_p.V110V	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	125	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			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)			AGGTGATCGTGGAAAGGCCGC	0.557000													178	340					1.79791e-67	2.34411e-67	1	1	0
PTPRM	5797	broad.mit.edu	37	18	8113636	8113636	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr18:8113636T>A	uc002knn.4	+	11	2512	c.2009T>A	c.(2008-2010)cTc>cAc	p.L670H	PTPRM_uc010dkv.3_Missense_Mutation_p.L670H|PTPRM_uc010wzl.2_Missense_Mutation_p.L457H	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	670	Fibronectin type-III 4.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	p.L670L(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCAGACAGCCTCCAAGCTGCG	0.418000													33	128					0	0	1	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69421805	69421805	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chrX:69421805G>A	uc004dxx.1	+	4	635	c.538G>A	c.(538-540)Gtg>Atg	p.V180M		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.	180					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	p.A179A(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						AGGCAATGCCGTGGTTATTGT	0.512000													14	79					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|DL476366_uc021tpf.1_5'Flank|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			5	16					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189850395	189850395	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:189850395C>G	uc002uqj.1	+	3	455	c.338C>G	c.(337-339)cCt>cGt	p.P113R		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	113					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTTTAGGGCCCTCCTGGTATT	0.413000													9	19					0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr16:32890622T>G	uc002edh.1	-	4	440	c.264A>C	c.(262-264)aaA>aaC	p.K88N	SLC6A10P_uc002edi.1_Non-coding_Transcript					Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																		CGTTGGTGTTTTTGTAGACCA	0.617000													5	40					0	0	1	0	0
BAIAP2L1	55971	broad.mit.edu	37	7	97922907	97922907	+	Splice_Site	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr7:97922907C>T	uc003upj.3	-	14	1724	c.1461_splice	c.e14-1	p.S487_splice		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	Homo sapiens BAI1-associated protein 2-like 1 (BAIAP2L1), mRNA.	487	Binds F-actin.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	SH3 domain binding|actin binding|cytoskeletal adaptor activity|proline-rich region binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GGGTTTTCTCCGCTGCAGGGG	0.527000													18	90					0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54849804	54849804	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr19:54849804T>A	uc002qfj.3	-	2	275	c.218A>T	c.(217-219)aAa>aTa	p.K73I	LILRA4_uc002qfi.3_Missense_Mutation_p.K7I	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	73	Ig-like C2-type 1.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CTCCAGTGTTTTTAATATGTG	0.522000													44	102					0	0	1	0	0
abParts	0	broad.mit.edu	37	2	89586689	89586689	+	Splice_Site	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:89586689C>T	uc021vkt.1	-	8		c.1067_splice	c.e8-1		abParts_uc021vku.1_Intron					Parts of antibodies, mostly variable regions.																		GTGACACTGTCTCCTTACAGA	0.473000													22	54					0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52344295	52344295	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:52344295C>A	uc003joy.3	+	4	633	c.490C>A	c.(490-492)Cct>Act	p.P164T	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Missense_Mutation_p.P88T|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	164					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CAGCTTCTCACCTGCAACTCA	0.478000													41	39					1.00776e-21	1.26584e-21	1	1	0
MARS2	92935	broad.mit.edu	37	2	198570143	198570143	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:198570143C>T	uc002uuq.3	+	0	116	c.14C>T	c.(13-15)tCc>tTc	p.S5F	BC021693_uc002uup.3_Intron	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	Homo sapiens methionyl-tRNA synthetase 2, mitochondrial (MARS2), nuclear gene encoding mitochondrial protein, mRNA.	5					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CTGCGAACGTCCGTCCTCCGC	0.682000													8	47					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8737747	8737747	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr20:8737747G>T	uc002wnb.3	+	23	2581	c.2578G>T	c.(2578-2580)Gca>Tca	p.A860S	PLCB1_uc010zrb.1_Missense_Mutation_p.A759S|PLCB1_uc002wna.3_Missense_Mutation_p.A860S|PLCB1_uc002wnc.1_Missense_Mutation_p.A759S|PLCB1_uc002wnd.1_Missense_Mutation_p.A437S	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	860					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AACGACTCCAGCAGAAAATGG	0.478000													21	82					9.57634e-11	1.13375e-10	1	1	0
HS6ST2	90161	broad.mit.edu	37	X	131762858	131762858	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chrX:131762858T>A	uc011mvd.1	-	5	1747	c.1331A>T	c.(1330-1332)aAc>aTc	p.N444I	HS6ST2_uc011mvb.1_Missense_Mutation_p.N298I|HS6ST2_uc011mvc.1_Missense_Mutation_p.N258I|HS6ST2_uc011mve.1_Missense_Mutation_p.N404I|HS6ST2_uc011mva.1_Missense_Mutation_p.N130I	NM_001077188	NP_001070656	Q96MM7	H6ST2_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 2 (HS6ST2), transcript variant L, mRNA.	404						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GACAGAGAGGTTGTAGCAGCC	0.522000													29	122					0	0	1	0	0
ERO1L	30001	broad.mit.edu	37	14	53138414	53138414	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr14:53138414T>C	uc001wzv.3	-	5	662	c.442A>G	c.(442-444)Aca>Gca	p.T148A		NM_014584	NP_055399	Q96HE7	ERO1A_HUMAN	Homo sapiens ERO1-like (S. cerevisiae) (ERO1L), mRNA.	148					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					GCCTTCTGTGTTTCCTCACTT	0.284000													20	9					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51773679	51773679	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr15:51773679T>C	uc010ufy.2	-	23	5849	c.5624A>G	c.(5623-5625)gAt>gGt	p.D1875G	DMXL2_uc002abd.3_5'UTR|DMXL2_uc002abf.3_Missense_Mutation_p.D1875G|DMXL2_uc010bfa.3_Missense_Mutation_p.D1239G	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1875						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTTAATTTTATCAACAAAGTT	0.378000													6	41					0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878650	5878650	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr11:5878650T>C	uc010qzr.2	-	0	283	c.283A>G	c.(283-285)Acc>Gcc	p.T95A	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTTCTTTGGTATTGAACCAG	0.473000													54	90					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170115593	170115593	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:170115593G>A	uc002ues.3	-	16	2668	c.2455C>T	c.(2455-2457)Cgc>Tgc	p.R819C	LRP2_uc010zdf.1_Missense_Mutation_p.R682C	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	819					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.R819C(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACTACTGTGCGTCTCGTTTTA	0.398000													31	122					0	0	1	0	0
TIGD6	81789	broad.mit.edu	37	5	149375645	149375645	+	Silent	SNP	G	G	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:149375645G>T	uc003lri.3	-	1	1029	c.267C>A	c.(265-267)atC>atA	p.I89I	TIGD6_uc003lrj.3_Silent_p.I89I|TIGD6_uc021yft.1_Silent_p.I89I	NM_001243253	NP_001230182	Q17RP2	TIGD6_HUMAN	Homo sapiens tigger transposable element derived 6 (TIGD6), transcript variant 2, mRNA.	89	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTTTGGCATGGATTTCTTGAA	0.453000													94	114					1.22118e-62	1.57226e-62	1	1	0
ANO1	55107	broad.mit.edu	37	11	69950226	69950226	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr11:69950226C>T	uc001opj.3	+	3	967	c.662C>T	c.(661-663)tCc>tTc	p.S221F	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Missense_Mutation_p.S193F	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	221					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						AAGAGACTCTCCTATCCCTTC	0.542000													4	6					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54806263	54806263	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr6:54806263C>A	uc003pck.3	+	4	2610	c.2494C>A	c.(2494-2496)Cat>Aat	p.H832N		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	832										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TAGAAGAAAGCATTCTTCCTC	0.378000													15	28					6.31663e-08	6.99583e-08	1	1	0
TROAP	10024	broad.mit.edu	37	12	49724313	49724313	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr12:49724313G>T	uc009zlh.3	+	12	1852	c.1685G>T	c.(1684-1686)aGt>aTt	p.S562I	TROAP_uc001rtx.4_Missense_Mutation_p.S562I	NM_005480	NP_005471	Q12815	TROAP_HUMAN	Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA.	562	4 X 33 AA approximate tandem repeats.|Cys-rich.				cell adhesion	cytoplasm		p.S562I(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TGCTGTAGGAGTGAGCCTGAG	0.592000													4	72					0.000602214	0.000626546	1	1	0
OVOS2	0	broad.mit.edu	37	12	31353359	31353359	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr12:31353359T>A	uc010sjy.1	-	2	371	c.371A>T	c.(370-372)aAa>aTa	p.K124I						RecName: Full=Ovostatin homolog 2; Flags: Precursor;													all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					ACACTCACCTTTCTGTCCAGG	0.398000													4	18					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685648	248685648	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:248685648G>A	uc001ien.1	+	0	701	c.701G>A	c.(700-702)cGc>cAc	p.R234H		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCGGGCCGCCAAAAGGCC	0.473000													30	66					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227727	38227727	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:38227727T>C	uc009vvi.3	-	2	286	c.200A>G	c.(199-201)cAc>cGc	p.H67R	EPHA10_uc001cbw.4_Missense_Mutation_p.H67R	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	67						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGACGGTCGTGTTCATCCAC	0.627000													35	92					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152129014	152129014	+	Silent	SNP	T	T	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:152129014T>C	uc001ezs.1	-	2	626	c.561A>G	c.(559-561)agA>agG	p.R187R		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	187	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.E186Q(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CCTTGTCTTGTCTCTCAGACT	0.458000													16	500					0	0	1	0	0
NR3C1	2908	broad.mit.edu	37	5	142779650	142779650	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:142779650T>C	uc003lnd.3	-	1	1749	c.755A>G	c.(754-756)gAc>gGc	p.D252G	NR3C1_uc003lmy.3_Missense_Mutation_p.D252G|NR3C1_uc003lmz.3_5'UTR|NR3C1_uc003lna.3_Missense_Mutation_p.D252G|NR3C1_uc003lnb.3_Missense_Mutation_p.D252G|NR3C1_uc011dbk.2_Intron|NR3C1_uc003lnf.3_Missense_Mutation_p.D252G|NR3C1_uc003lne.3_Missense_Mutation_p.D252G|NR3C1_uc003lnc.3_Missense_Mutation_p.D252G|NR3C1_uc021yfa.1_Missense_Mutation_p.D252G|NR3C1_uc021yfb.1_Missense_Mutation_p.D252G|NR3C1_uc003lng.2_Missense_Mutation_p.D252G|NR3C1_uc003lni.2_Missense_Mutation_p.D252G	NM_001018077	NP_001191193	P04150	GCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) (NR3C1), transcript variant 5, mRNA.	252	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	GGGTTTAGTGTCCGGTAAAAT	0.413000													6	94					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20597371	20597371	+	Silent	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr4:20597371C>T	uc003gpr.1	+	30	3438	c.3234C>T	c.(3232-3234)gaC>gaT	p.D1078D	SLIT2_uc003gps.1_Silent_p.D1070D	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1078	EGF-like 5; calcium-binding (Potential).				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding	p.D1078D(2)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCGATTTTGACGACTGCCAAG	0.468000													76	83					0	0	1	0	0
SRSF11	9295	broad.mit.edu	37	1	70712575	70712575	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:70712575C>G	uc001des.3	+	9	1131	c.1007C>G	c.(1006-1008)tCt>tGt	p.S336C	SRSF11_uc001det.3_Missense_Mutation_p.S336C|SRSF11_uc001deu.2_Missense_Mutation_p.S336C|SRSF11_uc001dev.3_Missense_Mutation_p.S146C|SRSF11_uc001dew.3_Missense_Mutation_p.S276C	NM_004768	NP_004759	Q05519	SRS11_HUMAN	Homo sapiens serine/arginine-rich splicing factor 11 (SRSF11), transcript variant 1, mRNA.	336	10 X 8 AA approximate repeats of R-R-S-R- S-R-S-R.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding			large_intestine(3)|ovary(2)|skin(1)	6						GCCAGACGTTCTAGAAGTGCA	0.348000													7	93					0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12938644	12938644	+	Silent	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chrX:12938644C>T	uc004cvd.3	+	2	1709	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Silent_p.F495F	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	495					I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	p.F513F(2)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GTATTTTCTTCATTGGGCCAA	0.378000													9	88					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178917478	178917478	+	Splice_Site	SNP	G	G	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr3:178917478G>A	uc003fjk.3	+	3	510	c.353_splice	c.e3-1	p.G118_splice		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	118					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	p.G118D(26)		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)			TTTATTAAAGGTTTTGCTATC	0.338000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			17	36					0	0	1	0	0
CXorf23	256643	broad.mit.edu	37	X	19955647	19955647	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chrX:19955647A>C	uc004czp.3	-	7	1749	c.1749T>G	c.(1747-1749)gaT>gaG	p.D583E	CXorf23_uc011mjg.2_Missense_Mutation_p.D148E|CXorf23_uc004czo.3_Missense_Mutation_p.D533E	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	Homo sapiens chromosome X open reading frame 23 (CXorf23), mRNA.	583						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						AATTCTGATCATCCCTAATAA	0.259000													14	50					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31040286	31040286	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr19:31040286G>T	uc002nsu.1	+	3	3898	c.3760G>T	c.(3760-3762)Ggg>Tgg	p.G1254W	ZNF536_uc010edd.1_Missense_Mutation_p.G1254W	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCGGAGCGGGGGCCCCAGAG	0.607000													5	17					2.0095e-06	2.15602e-06	1	1	0
SH3RF2	153769	broad.mit.edu	37	5	145393444	145393444	+	Silent	SNP	G	G	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:145393444G>A	uc003lnt.3	+	4	1117	c.879G>A	c.(877-879)agG>agA	p.R293R	SH3RF2_uc011dbl.1_Silent_p.R293R	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	293							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTCCAGGAGGAAGGTGCCTG	0.577000													14	73					0	0	1	0	0
MATN2	4147	broad.mit.edu	37	8	99019780	99019780	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr8:99019780T>G	uc003yic.3	+	9	1755	c.1524T>G	c.(1522-1524)tgT>tgG	p.C508W	MATN2_uc010mbh.1_Missense_Mutation_p.C467W|MATN2_uc003yid.3_Missense_Mutation_p.C508W|MATN2_uc003yie.1_Missense_Mutation_p.C508W|MATN2_uc010mbi.1_Missense_Mutation_p.C341W	NM_002380	NP_002371	O00339	MATN2_HUMAN	Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA.	508	EGF-like 7.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CCTTTGCCTGTCAGTGTCCTG	0.557000													34	63					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139793188	139793188	+	Silent	SNP	G	G	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr8:139793188G>A	uc003yvd.3	-	12	2079	c.1632C>T	c.(1630-1632)gaC>gaT	p.D544D		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	544	Collagen-like 2.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTTGCTGCCGTCTCTCCCAG	0.527000										HNSCC(7;0.00092)			20	36					0	0	1	0	0
OR52I2	143502	broad.mit.edu	37	11	4608347	4608347	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr11:4608347T>C	uc010qyh.2	+	0	327	c.305T>C	c.(304-306)gTt>gCt	p.V102A		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGGACATTGTTATGGCCTCC	0.483000													65	166					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166901577	166901577	+	Silent	SNP	T	T	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:166901577T>C	uc002udo.4	-	11	1865	c.1638A>G	c.(1636-1638)gaA>gaG	p.E546E	SCN1A_uc010fpk.3_Silent_p.E546E|SCN1A_uc021vsb.1_Silent_p.E546E	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	546						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGTACCTCTTTTCATATGTCA	0.428000													26	51					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617899	77617899	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr8:77617899T>G	uc003yau.2	+	1	1963	c.1576T>G	c.(1576-1578)Tcg>Gcg	p.S526A	ZFHX4_uc003yat.1_Missense_Mutation_p.S526A|ZFHX4_uc003yaw.1_Missense_Mutation_p.S526A	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	526	Poly-Ser.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTCGTCCTCCTCGGCGACTGT	0.428000										HNSCC(33;0.089)			10	17					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370731	35370731	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:35370731delC	uc001byc.3	-	0	254	c.254delG	c.(253-255)ggtfs	p.G85fs		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	85					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GGTGCTGCTACCCCCCCCAAC	0.701													4	7	---	---	---	---					
SLC39A1	27173	broad.mit.edu	37	1	153934816	153934826	+	Splice_Site	DEL	CTGGCGGGAAG	CTGGCGGGAAG	-	rs61755890	byFrequency	TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:153934816_153934826delCTGGCGGGAAG	uc001fdl.3	-	4	654	c.188_splice	c.e4-1	p.A63_splice	SLC39A1_uc001fdi.3_Splice_Site_p.A63_splice|SLC39A1_uc001fdj.3_Splice_Site_p.A63_splice|SLC39A1_uc001fdk.3_Splice_Site_p.A63_splice|SLC39A1_uc010pee.2_Intron	NM_014437	NP_055252	Q9NY26	S39A1_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 1 (SLC39A1), mRNA.	63						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		TCAGGGCTTTCTGGCGGGAAGCTGGGTAGGG	0.597													15	121	---	---	---	---					
FAM75E1	286234	broad.mit.edu	37	9	90500087	90500087	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr9:90500087delC	uc004app.4	+	3	720	c.685delC	c.(685-687)cttfs	p.L229fs	FAM75E1_uc004apo.1_Frame_Shift_Del_p.L41fs	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	229	Pro-rich.					integral to membrane											AGAGCCCTTGCTTCCCCTAAA	0.617													54	233	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	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													13	288	---	---	---	---					
PAFAH1B1	5048	broad.mit.edu	37	17	2569347	2569347	+	Frame_Shift_Del	DEL	A	A	-	rs113994198		TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr17:2569347delA	uc002fuw.4	+	3	723	c.155delA	c.(154-156)gaafs	p.E52fs	PAFAH1B1_uc010ckb.2_Intron	NM_000430	NP_000421	P43034	LIS1_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (PAFAH1B1), mRNA.	52	Interaction with NDE1 (By similarity).|Interaction with NDEL1 (By similarity).				G2/M transition of mitotic cell cycle|acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						GGTCTTTTGGAAAAAAAATGG	0.244													2	4	---	---	---	---					
LOC100506888	100506888	broad.mit.edu	37	18	44543098	44543099	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr18:44543098_44543099insGC	uc021ujk.1	-	0	1509_1510	c.1273_1274insGC	c.(1273-1275)cagfs	p.Q425fs	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_001242907	NP_001229836	A6NLF2	EA3L2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C-like (LOC100506888), mRNA.	425	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding										TCGCAGCCGCTGCTCTCGGGCG	0.554													9	26	---	---	---	---					
