Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TPTE	7179	broad.mit.edu	37	21	10920147	10920147	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr21:10920147A>T	uc002yip.1	-	18	1475	c.1107T>A	c.(1105-1107)ttT>ttA	p.F369L	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.F351L|TPTE_uc002yir.1_Missense_Mutation_p.F331L|TPTE_uc010gkv.1_Missense_Mutation_p.F231L	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	369	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCCTTTCTCCAAAATAATACA	0.383000														95			18		0	0	0.016522	0	0
SLC35D3	340146	broad.mit.edu	37	6	137245388	137245388	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr6:137245388G>T	uc003qhe.3	+	1	970	c.805G>T	c.(805-807)Gtg>Ttg	p.V269L		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	Homo sapiens solute carrier family 35, member D3 (SLC35D3), mRNA.	269					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CACCATCACGGTGGGCATGGT	0.592000														3			21		1.01871e-10	1.13035e-10	0.008871	1	0
SPPL2C	162540	broad.mit.edu	37	17	43922344	43922344	+	Silent	SNP	C	T	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr17:43922344C>T	uc010wka.2	+	0	89	c.72C>T	c.(70-72)taC>taT	p.Y24Y	MAPT-AS1_uc010wjz.2_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	Homo sapiens intramembrane protease 5 (IMP5), mRNA.	24						integral to membrane	aspartic-type endopeptidase activity	p.Y24Y(1)									GGGGAAAGTACGGCGTGGCCC	0.622000														23			20		0	0	0.008871	0	0
GPR110	266977	broad.mit.edu	37	6	46996743	46996743	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr6:46996743C>T	uc003oyt.3	-	1	254	c.55G>A	c.(55-57)Ggt>Agt	p.G19S	GPR110_uc011dwl.2_5'UTR|GPR110_uc003oyu.1_Missense_Mutation_p.G19S	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	19					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						AGGAAGCCACCGTGGCCGTCA	0.512000														24			18		0	0	0.012319	0	0
FGD5	152273	broad.mit.edu	37	3	14862336	14862336	+	Silent	SNP	G	A	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr3:14862336G>A	uc003bzc.3	+	0	1868	c.1758G>A	c.(1756-1758)tcG>tcA	p.S586S	FGD5_uc011avk.2_Silent_p.S586S	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	586					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCTCTCTGTCGTGTGTAATTG	0.557000														24			17		0	0	0.006122	0	0
P2RY2	5029	broad.mit.edu	37	11	72945405	72945405	+	Silent	SNP	G	A	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:72945405G>A	uc021qna.1	+	0	201	c.201G>A	c.(199-201)gcG>gcA	p.A67A	P2RY2_uc001otk.3_Silent_p.A67A|P2RY2_uc001otj.3_Silent_p.A67A|P2RY2_uc001otl.3_Silent_p.A67A	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	67					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CCTGGAATGCGTCCACCACAT	0.612000														37			18		0	0	0.006122	0	0
HBE1	3046	broad.mit.edu	37	11	5291062	5291062	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:5291062T>C	uc001mal.1	-	0	325	c.59A>G	c.(58-60)aAt>aGt	p.N20S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.N20S	NM_005330	NP_005321	P02100	HBE_HUMAN	Homo sapiens hemoglobin, epsilon 1 (HBE1), mRNA.	20					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTTCCACATTCATCTTGCT	0.507000														21			16		0	0	0.007413	0	0
ZNF484	83744	broad.mit.edu	37	9	95610417	95610417	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr9:95610417T>C	uc004asu.1	-	4	801	c.652A>G	c.(652-654)Aca>Gca	p.T218A	ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.T220A|ZNF484_uc004asv.1_Missense_Mutation_p.T182A|ZNF484_uc010mrb.1_Missense_Mutation_p.T182A	NM_031486	NP_001007102	Q5JVG2	ZN484_HUMAN	Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA.	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GTCACTTCTGTATGAGAATTC	0.353000														84			28		0	0	0.006320	0	0
GIGYF2	26058	broad.mit.edu	37	2	233674460	233674460	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:233674460C>T	uc002vtj.4	+	17	2167	c.1900C>T	c.(1900-1902)Cag>Tag	p.Q634*	GIGYF2_uc010zmj.1_Nonsense_Mutation_p.Q613*|GIGYF2_uc002vtg.2_Nonsense_Mutation_p.Q607*|GIGYF2_uc002vti.4_Nonsense_Mutation_p.Q613*|GIGYF2_uc002vtk.4_Nonsense_Mutation_p.Q613*|GIGYF2_uc002vth.4_Nonsense_Mutation_p.Q607*|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Nonsense_Mutation_p.Q444*|GIGYF2_uc002vtq.4_5'Flank	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	613	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		ACTGACCAGGCAGCAAGAACT	0.433000														51			16		0	0	0.006122	0	0
KRT39	390792	broad.mit.edu	37	17	39122910	39122910	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr17:39122910G>A	uc002hvo.1	-	0	235	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	KRT39_uc010wfm.1_5'UTR	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	67	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				ATGGGCTTGCGACAAAAGCGA	0.517000														111			81		0	0	0.014410	0	0
ZNF624	57547	broad.mit.edu	37	17	16527452	16527452	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr17:16527452C>A	uc010cpi.2	-	5	840	c.748G>T	c.(748-750)Gag>Tag	p.E250*	ZNF624_uc021tre.1_Nonsense_Mutation_p.E124*	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	Homo sapiens zinc finger protein 624 (ZNF624), mRNA.	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCTTTCATCTCCTTGCAAATT	0.373000														74			67		2.165e-29	2.5789e-29	0.014410	1	0
GUCY2F	2986	broad.mit.edu	37	X	108719025	108719025	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chrX:108719025C>A	uc022cch.1	-	0	226	c.141G>T	c.(139-141)caG>caT	p.Q47H	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.Q47H	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	47					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GTGTCCACACCTGCTGCGGAA	0.567000											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		48			32		1.62565e-12	1.85461e-12	0.012213	1	0
RIMS2	9699	broad.mit.edu	37	8	104898359	104898359	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr8:104898359C>T	uc003yls.3	+	1	1107	c.866C>T	c.(865-867)tCg>tTg	p.S289L	RIMS2_uc003ylp.3_Missense_Mutation_p.S511L|RIMS2_uc003ylw.2_Missense_Mutation_p.S319L|RIMS2_uc003ylq.3_Missense_Mutation_p.S319L|RIMS2_uc003ylr.3_Missense_Mutation_p.S319L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	542					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.S289L(1)|p.S547L(1)|p.S319L(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CGCCAGATTTCGTTGAGCAGT	0.428000										HNSCC(12;0.0054)				35			25		0	0	0.021523	0	0
RNF150	57484	broad.mit.edu	37	4	141888953	141888953	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr4:141888953T>C	uc003iio.1	-	1	1213	c.559A>G	c.(559-561)Atc>Gtc	p.I187V	RNF150_uc010iok.1_Missense_Mutation_p.I187V|RNF150_uc003iip.1_Missense_Mutation_p.I187V	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	Homo sapiens ring finger protein 150 (RNF150), mRNA.	187						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GTCACGGTGATGTTTCTTTCC	0.488000														126			27		0	0	0.007291	0	0
ZNF280B	140883	broad.mit.edu	37	22	22842418	22842418	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr22:22842418A>G	uc002zwc.1	-	3	2082	c.1306T>C	c.(1306-1308)Ttt>Ctt	p.F436L	abParts_uc021wml.1_Splice_Site|abParts_uc021wmm.1_Intron|ZNF280B_uc021wmn.1_Missense_Mutation_p.F436L	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	Homo sapiens zinc finger protein 280B (ZNF280B), mRNA.	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTGAGACAAAAGGGACAAAGC	0.428000														174			4		0	0	0.009096	0	0
LINGO4	339398	broad.mit.edu	37	1	151774674	151774674	+	Silent	SNP	T	C	C			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr1:151774674T>C	uc001ezf.1	-	1	697	c.507A>G	c.(505-507)gtA>gtG	p.V169V	LINGO4_uc021oyu.1_Silent_p.V169V	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	169						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAGCCACAAATACCAGGTGGT	0.607000														70			3		0	0	0.004672	0	0
TYK2	7297	broad.mit.edu	37	19	10465220	10465220	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr19:10465220G>A	uc002moc.4	-	18	3061	c.2683C>T	c.(2683-2685)Cgc>Tgc	p.R895C	TYK2_uc010dxe.3_Missense_Mutation_p.R710C	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	895					intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TTCAAATAGCGCTTGTGGAAA	0.577000														50			17		0	0	0.004990	0	0
SYT16	83851	broad.mit.edu	37	14	62567163	62567163	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr14:62567163G>A	uc001xfu.1	+	5	1873	c.1676G>A	c.(1675-1677)cGt>cAt	p.R559H	SYT16_uc010tse.1_Missense_Mutation_p.R117H	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	559	C2 2.							p.V558A(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GAGATGTCCCGTTGCAAGACG	0.458000														16			11		0	0	0.013537	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420969	105420969	+	Silent	SNP	C	T	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr14:105420969C>T	uc010axc.1	-	6	939	c.819G>A	c.(817-819)ccG>ccA	p.P273P	AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Silent_p.P173P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	273						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTGGGGTCCCGGCCCCCGCT	0.592000														9			9		0	0	0.004482	0	0
ABCB1	5243	broad.mit.edu	37	7	87178715	87178715	+	Silent	SNP	C	T	T	rs56871767		TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr7:87178715C>T	uc003uiz.2	-	14	2167	c.1674G>A	c.(1672-1674)acG>acA	p.T558T	ABCB1_uc011khc.2_Silent_p.T494T	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	558	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CCAAGGCTGACGTGGCCTCAT	0.537000														50			27		0	0	0.006320	0	0
ATXN2	6311	broad.mit.edu	37	12	111908030	111908030	+	Silent	SNP	A	G	G			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr12:111908030A>G	uc001tsj.3	-	19	3360	c.3198T>C	c.(3196-3198)taT>taC	p.Y1066Y	ATXN2_uc001tsh.3_Silent_p.Y801Y|ATXN2_uc001tsi.3_Silent_p.Y777Y|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsl.1_Silent_p.Y85Y	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	1066	Pro-rich.				RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TTACAGGACTATAGACATGAG	0.418000														52			33		0	0	0.017118	0	0
OLFML2B	25903	broad.mit.edu	37	1	161967984	161967984	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr1:161967984C>T	uc010pkq.2	-	5	1532	c.1108G>A	c.(1108-1110)Gca>Aca	p.A370T	OLFML2B_uc001gbu.3_Missense_Mutation_p.A369T	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	369								p.A369T(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GACCAGGGTGCGGTCCGAGCG	0.627000														98			66		0	0	0.014410	0	0
CREBBP	1387	broad.mit.edu	37	16	3781317	3781317	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr16:3781317C>G	uc002cvv.3	-	29	5252	c.5048G>C	c.(5047-5049)cGc>cCc	p.R1683P	CREBBP_uc002cvw.3_Missense_Mutation_p.R1645P	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1683	Interaction with TRERF1.				N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.R1683H(2)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCACTTGGAGCGGCGCAAGGA	0.642000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							7			13		0	0	0.016723	0	0
OPN5	221391	broad.mit.edu	37	6	47754301	47754301	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr6:47754301C>T	uc003ozc.3	+	1	209	c.181C>T	c.(181-183)Cga>Tga	p.R61*	OPN5_uc003ozd.3_5'Flank	NM_181744	NP_859528	Q6U736	OPN5_HUMAN	Homo sapiens opsin 5 (OPN5), transcript variant 1, mRNA.	61					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						GTCTTCTAGACGAAAGAAGAA	0.378000														32			39		0	0	0.007835	0	0
TBP	6908	broad.mit.edu	37	6	170871088	170871088	+	Silent	SNP	G	A	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr6:170871088G>A	uc003qxu.3	+	2	543	c.264G>A	c.(262-264)caG>caA	p.Q88Q	TBP_uc011ehf.2_Silent_p.Q68Q|TBP_uc003qxt.3_Silent_p.Q88Q|TBP_uc011ehg.1_Silent_p.Q88Q	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	88	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q88Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.612000														7			3		0	0	0.009096	0	0
HSPB3	8988	broad.mit.edu	37	5	53751847	53751847	+	Silent	SNP	C	T	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:53751847C>T	uc003jph.2	+	0	417	c.228C>T	c.(226-228)gaC>gaT	p.D76D		NM_006308	NP_006299	Q12988	HSPB3_HUMAN	Homo sapiens heat shock 27kDa protein 3 (HSPB3), mRNA.	76					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus		p.D76V(1)|p.L75L(1)		breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				TCCTGCTGGACGTGGTCCAGT	0.547000														40			22		0	0	0.014323	0	0
TYRP1	7306	broad.mit.edu	37	9	12708029	12708029	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr9:12708029A>G	uc003zkv.4	+	6	1472	c.1294A>G	c.(1294-1296)Att>Gtt	p.I432V		NM_000550	NP_000541	P17643	TYRP1_HUMAN	Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.	432					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		AAATGCCCCTATTGGACATAA	0.348000									Oculocutaneous Albinism					1			13		0	0	0.028581	0	0
RASA3	22821	broad.mit.edu	37	13	114780784	114780784	+	Missense_Mutation	SNP	G	A	A	rs144637782		TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr13:114780784G>A	uc001vui.3	-	13	1437	c.1306C>T	c.(1306-1308)Cgc>Tgc	p.R436C	RASA3_uc010tkk.2_Missense_Mutation_p.R404C|RASA3_uc001vuj.3_Missense_Mutation_p.R53C	NM_007368	NP_031394	Q14644	RASA3_HUMAN	Homo sapiens RAS p21 protein activator 3 (RASA3), mRNA.	436	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|calcium-release channel activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TGGAAGACGCGGTCCACATAC	0.662000														64			8		0	0	0.003080	0	0
SP7	121340	broad.mit.edu	37	12	53722415	53722415	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr12:53722415C>T	uc001sct.3	-	1	918	c.811G>A	c.(811-813)Gac>Aac	p.D271N	SP7_uc001scv.3_Missense_Mutation_p.D271N|SP7_uc001scu.3_Missense_Mutation_p.D253N	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	Homo sapiens Sp7 transcription factor (SP7), transcript variant 2, mRNA.	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						TTAGGGCAGTCGCAGGAGGAG	0.662000														13			13		0	0	0.016723	0	0
SI	6476	broad.mit.edu	37	3	164741401	164741401	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr3:164741401C>T	uc003fei.3	-	25	3119	c.3056G>A	c.(3055-3057)cGt>cAt	p.R1019H		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1019	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CACCTCCACACGAAGAGTTGA	0.388000										HNSCC(35;0.089)				56			27		0	0	0.006320	0	0
HCN1	348980	broad.mit.edu	37	5	45267295	45267295	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:45267295C>T	uc003jok.3	-	6	1704	c.1679G>A	c.(1678-1680)cGt>cAt	p.R560H		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	560						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGAGTAAAGACGACAATATGT	0.433000														76			43		0	0	0.011902	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5237184	5237184	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:5237184G>A	uc003jdl.3	+	13	2264	c.2126G>A	c.(2125-2127)cGt>cAt	p.R709H	ADAMTS16_uc003jdk.1_Missense_Mutation_p.R709H|ADAMTS16_uc010itk.1_Intron	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	709	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GAGGATAGCCGTAATGTTTGT	0.403000														52			42		0	0	0.007835	0	0
HEG1	57493	broad.mit.edu	37	3	124692589	124692589	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr3:124692589C>A	uc011bke.2	-	16	4350	c.4282G>T	c.(4282-4284)Gat>Tat	p.D1428Y	HEG1_uc003ehr.4_Missense_Mutation_p.D182Y|HEG1_uc003ehs.4_Missense_Mutation_p.D1328Y	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	1328						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TAGTACACATCCGTCATCTGG	0.463000														26			14		0.00316338	0.0033715	0.024245	1	0
FBXO46	23403	broad.mit.edu	37	19	46216180	46216180	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr19:46216180G>A	uc002pcz.3	-	1	697	c.574C>T	c.(574-576)Cga>Tga	p.R192*	FBXO46_uc002pcy.3_Nonsense_Mutation_p.R192*|FBXO46_uc021uvz.1_Nonsense_Mutation_p.R192*	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	Homo sapiens F-box protein 46 (FBXO46), mRNA.	192							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GTGGTCGGTCGTGGGTAGCTC	0.697000														9			7		0	0	0.001984	0	0
PLP1	5354	broad.mit.edu	37	X	103043374	103043374	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chrX:103043374C>T	uc010nov.3	+	5	911	c.631C>T	c.(631-633)Cca>Tca	p.P211S	RAB9B_uc004eli.2_Intron|PLP1_uc004elk.3_Missense_Mutation_p.P211S|PLP1_uc004elj.3_Missense_Mutation_p.P176S|PLP1_uc011msf.2_Missense_Mutation_p.P156S|PLP1_uc010nox.3_Missense_Mutation_p.P165S	NM_001128834	NP_001122306	P60201	MYPR_HUMAN	Homo sapiens proteolipid protein 1 (PLP1), transcript variant 3, mRNA.	211			P -> L (in HLD1).		cell death|synaptic transmission	integral to membrane		p.P211P(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						AGGTGTTCTCCCATGGAATGC	0.478000														186			134		0	0	0.014410	0	0
SGCD	6444	broad.mit.edu	37	5	155771587	155771587	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:155771587G>A	uc003lwc.4	+	2	611	c.92G>A	c.(91-93)cGg>cAg	p.R31Q	SGCD_uc003lwa.1_Missense_Mutation_p.R31Q|SGCD_uc003lwb.3_Missense_Mutation_p.R31Q|SGCD_uc003lwd.4_Missense_Mutation_p.R30Q	NM_000337	NP_001121681	Q92629	SGCD_HUMAN	Homo sapiens sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) (SGCD), transcript variant 1, mRNA.	30					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TATGGCTGGCGGAAACGATGC	0.483000														39			37		0	0	0.019004	0	0
AACSP1	729522	broad.mit.edu	37	5	178194152	178194152	+	RNA	SNP	G	A	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:178194152G>A	uc011dgk.2	-	5		c.839C>T			AACSP1_uc011dgl.2_Non-coding_Transcript|AACSP1_uc003mjk.3_Non-coding_Transcript					Homo sapiens acetoacetyl-CoA synthetase pseudogene 1 (AACSP1), non-coding RNA.																		GGACTCCTGCGCCAGGCCATT	0.597000														3			4		0	0	0.009096	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	22769	22769	+	RNA	SNP	A	G	G			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chrGL000241.1:22769A>G	uc011mgv.2	-	5		c.651T>C								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		TCTTGGTCCAATTGCATCTGA	0.333000														110			3		0	0	0.004482	0	0
CDH6	1004	broad.mit.edu	37	5	31323148	31323148	+	Silent	SNP	G	T	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:31323148G>T	uc003jhe.2	+	11	2466	c.2106G>T	c.(2104-2106)cgG>cgT	p.R702R		NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	702					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TACCCCGACGGACTCCAACAG	0.522000														24			15		2.62699e-14	3.0398e-14	0.024245	1	0
PSMC4	5704	broad.mit.edu	37	19	40480518	40480518	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr19:40480518C>T	uc002omq.3	+	4	594	c.557C>T	c.(556-558)aCg>aTg	p.T186M	PSMC4_uc002omr.3_Missense_Mutation_p.T155M	NM_006503	NP_006494	P43686	PRS6B_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 4 (PSMC4), transcript variant 1, mRNA.	186					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTCCCGCTCACGCATTTCGAG	0.627000														45			6		0	0	0.003080	0	0
TRIML1	339976	broad.mit.edu	37	4	189068521	189068521	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr4:189068521G>A	uc003izm.1	+	5	1517	c.1402G>A	c.(1402-1404)Gtc>Atc	p.V468I	TRIML1_uc003izn.1_Missense_Mutation_p.V192I	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	468	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GAACAGCCACGTCTGAGGGGC	0.542000														29			21		0	0	0.009535	0	0
GRXCR2	643226	broad.mit.edu	37	5	145252495	145252495	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:145252495C>T	uc003lns.1	-	0	37	c.37G>A	c.(37-39)Gat>Aat	p.D13N		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	Homo sapiens glutaredoxin, cysteine rich 2 (GRXCR2), mRNA.	13										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GGTTTGCCATCACTCTTCTGA	0.507000														74			46		0	0	0.014410	0	0
TBP	6908	broad.mit.edu	37	6	170871082	170871082	+	Silent	SNP	G	A	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr6:170871082G>A	uc003qxu.3	+	2	537	c.258G>A	c.(256-258)caG>caA	p.Q86Q	TBP_uc011ehf.2_Silent_p.Q66Q|TBP_uc003qxt.3_Silent_p.Q86Q|TBP_uc011ehg.1_Silent_p.Q86Q	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	86	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q86Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.612000														6			3		0	0	0.009096	0	0
SLC46A2	57864	broad.mit.edu	37	9	115648895	115648895	+	Splice_Site	SNP	T	G	G			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr9:115648895T>G	uc004bgk.3	-	3	1446	c.1214_splice	c.e3-1	p.G405_splice		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	Homo sapiens solute carrier family 46, member 2 (SLC46A2), mRNA.	405						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CGAACACCTTTCCTGTGGAAG	0.542000														37			20		0	0	0.008871	0	0
MYOM3	127294	broad.mit.edu	37	1	24387556	24387556	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr1:24387556C>T	uc001bin.4	-	34	4151	c.3988G>A	c.(3988-3990)Gag>Aag	p.E1330K	MYOM3_uc001bil.4_Missense_Mutation_p.E223K|MYOM3_uc001bim.4_Missense_Mutation_p.E987K	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	1330										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TTACTCTTCTCGATGATGGCC	0.488000														36			14		0	0	0.024245	0	0
SLC17A9	63910	broad.mit.edu	37	20	61594706	61594706	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr20:61594706G>A	uc002yea.4	+	5	894	c.710G>A	c.(709-711)cGg>cAg	p.R237Q	SLC17A9_uc002ydz.4_Missense_Mutation_p.R231Q|SLC17A9_uc011aap.1_Missense_Mutation_p.R257Q	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	237					exocytosis|transmembrane transport	integral to membrane	transporter activity	p.R237W(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CGGCTCTTCCGGAAGCCTGCT	0.657000														11			6		0	0	0.021553	0	0
FAM153B	202134	broad.mit.edu	37	5	175526032	175526032	+	Silent	SNP	A	G	G			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:175526032A>G	uc003mdk.3	+	9	603	c.546A>G	c.(544-546)acA>acG	p.T182T	FAM153B_uc021yic.1_Intron	NM_001079529	NP_001072997	P0C7A2	F153B_HUMAN	Homo sapiens family with sequence similarity 153, member B (FAM153B), mRNA.	182										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		AGGCAGACACAGGCATCCAAA	0.438000														117			3		0	0	0.009096	0	0
LPPR1	54886	broad.mit.edu	37	9	104086328	104086328	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr9:104086328G>A	uc004bbb.3	+	7	1366	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	LPPR1_uc011lvi.2_Missense_Mutation_p.E299K|LPPR1_uc004bbc.3_Missense_Mutation_p.E323K|LPPR1_uc010mtc.3_Missense_Mutation_p.E307K	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	323						integral to membrane	catalytic activity										GTCCATGACCGAAGTTACCTG	0.418000														24			15		0	0	0.028581	0	0
PDZD3	79849	broad.mit.edu	37	11	119059739	119059739	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:119059739G>A	uc001pwb.3	+	7	2035	c.1511G>A	c.(1510-1512)cGg>cAg	p.R504Q	PDZD3_uc001pvz.3_Missense_Mutation_p.R438Q|PDZD3_uc010rzd.2_Missense_Mutation_p.R425Q|PDZD3_uc001pvy.3_Missense_Mutation_p.R424Q|PDZD3_uc001pwa.3_Missense_Mutation_p.R134Q			Q86UT5	NHRF4_HUMAN	Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 3, non-coding RNA.	504	PDZ 4.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		TCAGCTGCCCGGGCTGGGCTG	0.607000														57			43		0	0	0.014410	0	0
TPO	7173	broad.mit.edu	37	2	1459909	1459909	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:1459909G>A	uc002qwr.3	+	6	760	c.674G>A	c.(673-675)cGc>cAc	p.R225H	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.R225H|TPO_uc002qwx.3_Missense_Mutation_p.R225H|TPO_uc002qwu.3_Missense_Mutation_p.R225H|TPO_uc010yio.2_Missense_Mutation_p.R225H|TPO_uc010yip.2_Missense_Mutation_p.R225H	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	225					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GATGATGACCGCTATTCTGAC	0.537000														22			22		0	0	0.018920	0	0
SLC35D3	340146	broad.mit.edu	37	6	137245387	137245387	+	Silent	SNP	G	T	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr6:137245387G>T	uc003qhe.3	+	1	969	c.804G>T	c.(802-804)acG>acT	p.T268T		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	Homo sapiens solute carrier family 35, member D3 (SLC35D3), mRNA.	268					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CCACCATCACGGTGGGCATGG	0.592000														3			21		1.01871e-10	1.13035e-10	0.008871	1	0
SYT16	83851	broad.mit.edu	37	14	62547859	62547859	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr14:62547859G>A	uc001xfu.1	+	3	1498	c.1301G>A	c.(1300-1302)cGc>cAc	p.R434H	SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	434	C2 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TGTGCTGTCCGCTTCCGCCTG	0.572000														18			13		0	0	0.024245	0	0
WDR6	11180	broad.mit.edu	37	3	49049692	49049692	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr3:49049692G>A	uc003cvj.2	+	1	953	c.815G>A	c.(814-816)cGa>cAa	p.R272Q	WDR6_uc011bbx.1_Missense_Mutation_p.R143Q|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.R216Q|WDR6_uc011bbz.1_Missense_Mutation_p.R191Q	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	Homo sapiens WD repeat domain 6 (WDR6), mRNA.	242					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GGCGACCTGCGAGTGCCTGGG	0.552000														64			44		0	0	0.014410	0	0
DSP	1832	broad.mit.edu	37	6	7585482	7585482	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr6:7585482C>T	uc003mxp.1	+	23	8266	c.7987C>T	c.(7987-7989)Cca>Tca	p.P2663S	DSP_uc003mxq.1_Missense_Mutation_p.P2064S|DSP_uc021yle.1_Missense_Mutation_p.P2220S	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2663	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CATCATCCACCCAACCACGGG	0.562000														111			4		0	0	0.009096	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870194	151870194	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chrX:151870194G>A	uc022chf.1	+	0	884	c.884G>A	c.(883-885)gGa>gAa	p.G295E	MAGEA6_uc004ffq.1_Missense_Mutation_p.G295E|MAGEA6_uc004ffr.1_Missense_Mutation_p.G295E	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	295	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AAGATCAGTGGAGGACCTCGC	0.567000														99			72		0	0	0.014410	0	0
RIBC2	26150	broad.mit.edu	37	22	45821982	45821982	+	Missense_Mutation	SNP	G	A	A	rs149130910	byFrequency	TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr22:45821982G>A	uc011aqs.2	+	5	1021	c.812G>A	c.(811-813)cGc>cAc	p.R271H		NM_015653	NP_056468	Q9H4K1	RIBC2_HUMAN	Homo sapiens RIB43A domain with coiled-coils 2 (RIBC2), mRNA.	204										NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GTCCCTGACCGCTGGAAGGGC	0.642000														12			6		0	0	0.021553	0	0
PIK3CA	5290	broad.mit.edu	37	3	178917478	178917478	+	Splice_Site	SNP	G	A	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	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)				61			23		0	0	0.014323	0	0
ITGA4	3676	broad.mit.edu	37	2	182396426	182396426	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:182396426A>G	uc002unu.3	+	24	3470	c.2707A>G	c.(2707-2709)Aat>Gat	p.N903D	ITGA4_uc002unv.3_Missense_Mutation_p.N148D	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	903					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TTTCTTGTGTAATTTTGGGAA	0.323000														48			32		0	0	0.013726	0	0
TSPAN18	90139	broad.mit.edu	37	11	44948236	44948236	+	Silent	SNP	G	C	C	rs149091051	byFrequency	TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:44948236G>C	uc001myg.3	+	5	637	c.627G>C	c.(625-627)acG>acC	p.T209T	TSPAN18_uc001mye.4_Silent_p.T209T|TP53I11_uc001myf.1_Intron	NM_130783	NP_570139	Q96SJ8	TSN18_HUMAN	Homo sapiens tetraspanin 18 (TSPAN18), mRNA.	209						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						GCTGTTACACGGTGATCCTCA	0.587000											OREG0020922	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		95			62		0	0	0.014410	0	0
TMTC4	84899	broad.mit.edu	37	13	101315270	101315270	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr13:101315270G>T	uc001vot.3	-	4	813	c.500C>A	c.(499-501)gCg>gAg	p.A167E	TMTC4_uc001vou.3_Missense_Mutation_p.A148E|TMTC4_uc010tja.2_Intron	NM_032813	NP_001073137	Q5T4D3	TMTC4_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 4 (TMTC4), transcript variant 1, mRNA.	148						integral to membrane	binding	p.A167E(4)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCAGGGACGCCCTGGGGGC	0.602000														89			8		1.08611e-07	1.18885e-07	0.010729	1	0
DYNC2H1	79659	broad.mit.edu	37	11	102984404	102984404	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:102984404G>A	uc001phn.1	+	1	478	c.334G>A	c.(334-336)Gta>Ata	p.V112I	DYNC2H1_uc009yxe.1_Missense_Mutation_p.V112I|DYNC2H1_uc001pho.2_Missense_Mutation_p.V112I	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	112	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTACCAAGCAGTACGGCAAGT	0.328000														37			20		0	0	0.014323	0	0
DOCK5	80005	broad.mit.edu	37	8	25216578	25216578	+	Splice_Site	SNP	G	A	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr8:25216578G>A	uc003xeg.3	+	28	3086	c.2949_splice	c.e28+1	p.I983_splice	DOCK5_uc010luf.1_Splice_Site|DOCK5_uc003xeh.1_Splice_Site_p.I697_splice|DOCK5_uc003xei.3_Splice_Site_p.I553_splice|DOCK5_uc003xej.3_Splice_Site	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	983						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGACATCATCGTAAGTTGCCT	0.458000														68			56		0	0	0.014410	0	0
KLK6	5653	broad.mit.edu	37	19	51466622	51466622	+	Silent	SNP	C	T	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr19:51466622C>T	uc002puh.3	-	2	473	c.408G>A	c.(406-408)ctG>ctA	p.L136L	KLK6_uc010eoj.3_Intron|KLK6_uc002pui.3_Silent_p.L127L|KLK6_uc002puj.3_Silent_p.L20L|KLK6_uc010ycn.2_Silent_p.L20L|KLK6_uc002pul.3_Silent_p.L127L|KLK6_uc002pum.3_Silent_p.L20L	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	127	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		AGTCCCTCTCCAGGGGAAGGG	0.617000														19			10		0	0	0.008291	0	0
OTUD3	23252	broad.mit.edu	37	1	20216922	20216923	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr1:20216922_20216923insA	uc001bcs.4	+	1	385_386	c.266_267insA	c.(265-267)tcafs	p.S89fs		NM_015207	NP_056022	Q5T2D3	OTUD3_HUMAN	Homo sapiens OTU domain containing 3 (OTUD3), mRNA.	89	OTU.									breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGGACACTCACGAAATCATC	0.416													---	48	---	---	86	---					
HSPD1	3329	broad.mit.edu	37	2	198353171	198353174	+	Frame_Shift_Del	DEL	TCTG	-	-			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:198353171_198353174delTCTG	uc002uui.3	-	9	1394_1397	c.1257_1260delCAGA	c.(1255-1260)gacagafs	p.D419fs	HSPD1_uc010zgx.2_Frame_Shift_Del_p.D410fs|HSPD1_uc010fsm.3_Frame_Shift_Del_p.D230fs|HSPD1_uc002uuk.3_Frame_Shift_Del_p.D419fs	NM_002156	NP_955472	P10809	CH60_HUMAN	Homo sapiens heat shock 60kDa protein 1 (chaperonin) (HSPD1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	419					'de novo' protein folding|B cell cytokine production|B cell proliferation|MyD88-dependent toll-like receptor signaling pathway|T cell activation|activation of caspase activity|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|negative regulation of apoptosis|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|protein maturation|protein refolding|protein stabilization|response to unfolded protein	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|DNA replication origin binding|cell surface binding|chaperone binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			CATCTGTAACTCTGTCTTTCTTTT	0.441													---	87	---	---	57	---					
PHTF2	57157	broad.mit.edu	37	7	77569563	77569564	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr7:77569563_77569564delTC	uc003ugs.4	+	12	1810_1811	c.1684_1685delTC	c.(1684-1686)tctfs	p.S562fs	PHTF2_uc003ugp.3_Frame_Shift_Del_p.S524fs|PHTF2_uc010ldv.3_Frame_Shift_Del_p.S524fs|PHTF2_uc003ugq.4_Frame_Shift_Del_p.S524fs|PHTF2_uc003ugt.4_Frame_Shift_Del_p.S528fs|PHTF2_uc003ugu.4_Frame_Shift_Del_p.S524fs|PHTF2_uc022agp.1_Frame_Shift_Del_p.S562fs|PHTF2_uc010ldw.2_Frame_Shift_Del_p.S344fs	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	Homo sapiens putative homeodomain transcription factor 2 (PHTF2), transcript variant 1, mRNA.	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GGTTCGCGTGTCTCTTGTGTGG	0.342													---	170	---	---	47	---					
OR5D14	219436	broad.mit.edu	37	11	55563460	55563461	+	Frame_Shift_Ins	INS	-	G	G			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:55563460_55563461insG	uc010rim.2	+	0	429_430	c.429_430insG	c.(427-432)tgtgccfs	p.C143fs		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				AGAGGCTCTGTGCCCTGCTGGT	0.510													---	55	---	---	48	---					
OR11H2	79334	broad.mit.edu	37	14	20181759	20181759	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr14:20181759delT	uc021rno.1	-	1	389	c.317delA	c.(316-318)aacfs	p.N106fs		NM_001197287	NP_001184216	Q8NH07	O11H2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 2 (OR11H2), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										AAAGGAGATGTTTTTTTTCTC	0.388													---	30	---	---	7	---					
SCML2	10389	broad.mit.edu	37	X	18259468	18259469	+	Frame_Shift_Del	DEL	TT	-	-			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chrX:18259468_18259469delTT	uc004cyl.2	-	14	2162_2163	c.2005_2006delAA	c.(2005-2007)aagfs	p.K669fs	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_3'UTR|SCML2_uc011miz.1_3'UTR|SCML2_uc010nfc.2_3'UTR	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	669	SAM.				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CACATCACTCTTGAGTAGGAAC	0.342													---	116	---	---	79	---					
