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
F12	2161	broad.mit.edu	37	5	176830536	176830536	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr5:176830536G>A	uc003mgo.4	-	10	1382	c.1333C>T	c.(1333-1335)Cgc>Tgc	p.R445C	PFN3_uc003mgl.2_5'Flank	NM_000505	NP_000496	P00748	FA12_HUMAN	Homo sapiens coagulation factor XII (Hageman factor) (F12), mRNA.	445	Peptidase S1.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGTAGGAGCGCACGGCCAAC	0.721000									Hereditary Angioedema				3	16					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75892975	75892975	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr6:75892975G>A	uc021zbv.1	-	8	1717	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.A561V|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_Missense_Mutation_p.A219V	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	561	VWFA 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAGTTTTATCGCAGGATCTCT	0.443000													18	131					0	0	1	0	0
ZNF675	171392	broad.mit.edu	37	19	23837046	23837046	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr19:23837046C>T	uc002nri.3	-	3	871	c.689G>A	c.(688-690)tGt>tAt	p.C230Y		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	Homo sapiens zinc finger protein 675 (ZNF675), mRNA.	230					I-kappaB kinase/NF-kappaB cascade|bone resorption|cytokine-mediated signaling pathway|hemopoiesis|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.C230R(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACATTCTTGACATTTGTAGAG	0.308000													12	37					0	0	1	0	0
NUP50	10762	broad.mit.edu	37	22	45574602	45574602	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr22:45574602A>G	uc003bfr.3	+	4	1286	c.824A>G	c.(823-825)aAg>aGg	p.K275R	NUP50_uc003bfs.3_Missense_Mutation_p.K247R|NUP50_uc011aqn.2_Missense_Mutation_p.K25R|NUP50_uc003bft.3_Missense_Mutation_p.K247R|NUP50_uc011aqo.1_Missense_Mutation_p.K25R	NM_007172	NP_705931	Q9UKX7	NUP50_HUMAN	Homo sapiens nucleoporin 50kDa (NUP50), transcript variant 2, mRNA.	275	5 X 2 AA repeats of F-G.|Ser-rich.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AATTTCGGCAAGAAAGTTGAT	0.438000													3	20					0	0	1	0	0
KIAA1967	57805	broad.mit.edu	37	8	22472959	22472959	+	Silent	SNP	G	G	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr8:22472959G>A	uc003xch.3	+	11	1476	c.1227G>A	c.(1225-1227)caG>caA	p.Q409Q	KIAA1967_uc003xci.3_Silent_p.Q409Q|KIAA1967_uc003xcj.1_Silent_p.Q78Q	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	409					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CCGAGTTTCAGTACCTGCAGC	0.582000													30	132					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814555	137814555	+	Silent	SNP	G	G	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr2:137814555G>T	uc002tva.1	+	1	612	c.612G>T	c.(610-612)ggG>ggT	p.G204G	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Silent_p.G94G	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTCCTCTTGGGGAAGAGGAAT	0.463000													32	254					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195701278	195701278	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr3:195701278C>T	uc011btq.1	-	7	1215	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	SDHAP1_uc003fvx.3_Non-coding_Transcript|SDHAP1_uc011btp.1_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 (SDHAP1), non-coding RNA.																		CAGGCCTGCACGACTCTGCGA	0.537000													5	63					0	0	1	0	0
ABHD8	79575	broad.mit.edu	37	19	17411726	17411726	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr19:17411726T>C	uc002ngb.4	-	1	940	c.700A>G	c.(700-702)Atg>Gtg	p.M234V		NM_024527	NP_078803	Q96I13	ABHD8_HUMAN	Homo sapiens abhydrolase domain containing 8 (ABHD8), mRNA.	234							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						ATTGCTCGCATGTCCTCAGCC	0.617000													13	143					0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101384241	101384241	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr3:101384241G>C	uc003dve.4	-	3	1420	c.1190C>G	c.(1189-1191)tCa>tGa	p.S397*		NM_014415	NP_055230	O95625	ZBT11_HUMAN	Homo sapiens zinc finger and BTB domain containing 11 (ZBTB11), mRNA.	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCCTACTGATGACAGGGCAGA	0.438000													13	106					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90426386	90426386	+	Silent	SNP	G	G	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr6:90426386G>A	uc003pnn.1	-	43	6842	c.6726C>T	c.(6724-6726)gaC>gaT	p.D2242D		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	2242					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGTTAACATTGTCCATCAGAA	0.463000													8	51					0	0	1	0	0
ALS2CR8	79800	broad.mit.edu	37	2	203839140	203839140	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr2:203839140T>C	uc002uzo.2	+	11	1695	c.1415T>C	c.(1414-1416)aTa>aCa	p.I472T	ALS2CR8_uc010ftu.1_Non-coding_Transcript|ALS2CR8_uc010zia.1_Missense_Mutation_p.I396T|ALS2CR8_uc010zib.1_Missense_Mutation_p.I396T|ALS2CR8_uc010zic.1_Missense_Mutation_p.I384T|ALS2CR8_uc002uzp.2_Missense_Mutation_p.I472T	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA.	472										breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	20						GTAAATGATATAAAAAATCAC	0.328000													8	65					0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102048747	102048747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr10:102048747G>A	uc001kqx.1	-	14	2700	c.2317C>T	c.(2317-2319)Cag>Tag	p.Q773*	BLOC1S2_uc001kqv.1_5'Flank|BLOC1S2_uc001kqw.1_5'Flank|PKD2L1_uc009xwm.1_Nonsense_Mutation_p.Q726*	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	773					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TGCCCACCCTGGACTCCCCAG	0.602000													15	90					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23716455	23716455	+	Silent	SNP	C	C	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr16:23716455C>T	uc002dma.4	-	7	916	c.747G>A	c.(745-747)ctG>ctA	p.L249L	ERN2_uc010bxp.3_Silent_p.L249L|ERN2_uc010bxq.1_Silent_p.L57L	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	201					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CGCAGGACGCCAGGTGGCTCA	0.637000													5	50					0	0	1	0	0
HM13	81502	broad.mit.edu	37	20	30155916	30155916	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr20:30155916C>A	uc002wwc.3	+	11	1184	c.1070C>A	c.(1069-1071)cCg>cAg	p.P357Q	HM13_uc002wwd.3_Missense_Mutation_p.P357Q|HM13_uc002wwe.3_Intron|HM13_uc002wwf.3_Missense_Mutation_p.P233Q	NM_178581	NP_848696	Q8TCT9	HM13_HUMAN	Homo sapiens histocompatibility (minor) 13 (HM13), transcript variant 3, mRNA.	349					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CCTCATACCCCGAGGCTCACC	0.602000													3	22					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													6	72					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137657572	137657572	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr9:137657572G>A	uc004cfe.3	+	20	2462	c.2080G>A	c.(2080-2082)Gga>Aga	p.G694R		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	694	Triple-helical region.			PPGPPGVT -> VTGEPGAP (in Ref. 4; AA sequence).	axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.P693P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGTCCTCCCGGACCTCCCGT	0.637000													21	116					0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784352	151784352	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr5:151784352C>T	uc003luv.2	-	0	489	c.323G>A	c.(322-324)cGc>cAc	p.R108H		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	108					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGGGTAGTTGCGCCACATCTC	0.587000													19	149					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109803688	109803688	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr1:109803688G>T	uc001dxa.4	+	2	4044	c.3983G>T	c.(3982-3984)cGc>cTc	p.R1328L		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1328	EGF-like 3; calcium-binding.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTGAGTGCTCGCTCAGGCCGT	0.597000													6	96					0	0	1	0	0
CBX4	8535	broad.mit.edu	37	17	77809099	77809099	+	Silent	SNP	C	C	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr17:77809099C>T	uc002jxe.3	-	4	505	c.342G>A	c.(340-342)aaG>aaA	p.K114K		NM_003655	NP_003646	O00257	CBX4_HUMAN	Homo sapiens chromobox homolog 4 (CBX4), mRNA.	114	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCCCCTGGCCCTTCCCCTGCG	0.657000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	127					0	0	1	0	0
ATIC	471	broad.mit.edu	37	2	216177305	216177305	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr2:216177305G>A	uc002vex.4	+	1	291	c.104G>A	c.(103-105)gGa>gAa	p.G35E	ATIC_uc010zjo.2_5'UTR|ATIC_uc002vey.4_Missense_Mutation_p.G34E	NM_004044	NP_004035	P31939	PUR9_HUMAN	Homo sapiens 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase (ATIC), mRNA.	35					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	p.S34F(1)	ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	GTCGCTTCCGGAGGGACTGCA	0.473000			T	ALK	ALCL								20	84					0	0	1	0	0
WIPI1	55062	broad.mit.edu	37	17	66425017	66425017	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr17:66425017A>C	uc010dey.3	-	9	1117	c.1026T>G	c.(1024-1026)aaT>aaG	p.N342K	WIPI1_uc010wqo.2_Missense_Mutation_p.N260K	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN	Homo sapiens WD repeat domain, phosphoinositide interacting 1 (WIPI1), mRNA.	342					macroautophagy|vesicle targeting, trans-Golgi to endosome	PAS complex|autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						GAGGATCCAAATTGTACATAT	0.468000													4	56					0	0	1	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135870798	135870798	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr2:135870798T>G	uc010fnf.3	+	5	483	c.440T>G	c.(439-441)cTt>cGt	p.L147R	RAB3GAP1_uc002tuj.3_Missense_Mutation_p.L147R|RAB3GAP1_uc010fng.3_5'UTR|RAB3GAP1_uc010fnh.1_Non-coding_Transcript	NM_001172435	NP_001165906	Q15042	RB3GP_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 1 (catalytic) (RAB3GAP1), transcript variant 1, mRNA.	147						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AAGTGCAACCTTCTTCTGAGT	0.398000													16	111					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177058761	177058761	+	Splice_Site	SNP	A	A	G			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr4:177058761A>G	uc003iuj.3	+	10	1734	c.1431_splice	c.e10+1	p.E477_splice	WDR17_uc003ium.4_Splice_Site_p.E453_splice|WDR17_uc003iul.2_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	477										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CGATTTAATGAGGTAAGATTT	0.249000													5	52					0	0	1	0	0
PRPF19	27339	broad.mit.edu	37	11	60666069	60666069	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr11:60666069C>A	uc001nqf.3	-	12	1291	c.1084G>T	c.(1084-1086)Gga>Tga	p.G362*		NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN	Homo sapiens PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae) (PRPF19), mRNA.	362					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						AAGATGAGTCCGTCAGGGTGG	0.562000													9	56					0	0	1	0	0
ESF1	51575	broad.mit.edu	37	20	13763318	13763318	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr20:13763318C>T	uc002woj.3	-	1	577	c.469G>A	c.(469-471)Gat>Aat	p.D157N	ESF1_uc002wok.1_Missense_Mutation_p.D157N|NDUFAF5_uc002woo.3_5'Flank|NDUFAF5_uc002wom.3_5'Flank|NDUFAF5_uc002won.3_5'Flank	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA.	157	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TCTTTGCTATCCTTCTTCGGA	0.279000													5	34					0	0	1	0	0
EDNRA	1909	broad.mit.edu	37	4	148407185	148407185	+	Silent	SNP	C	C	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr4:148407185C>T	uc003iky.3	+	1	882	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L	EDNRA_uc011cid.2_Intron|EDNRA_uc010ipg.2_Silent_p.L118L|EDNRA_uc010ipe.1_Silent_p.L118L|EDNRA_uc010ipf.1_Non-coding_Transcript	NM_001957	NP_001948	P25101	EDNRA_HUMAN	Homo sapiens endothelin receptor type A (EDNRA), transcript variant 1, mRNA.	118					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity	p.L118L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	CCCCAACGCGCTGATAGCCAG	0.418000													15	86					0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55406192	55406192	+	Missense_Mutation	SNP	G	G	A	rs143338269	byFrequency	TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr11:55406192G>A	uc010rij.2	+	0	359	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D119Y(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GCCTATGACCGCTATGTGGCC	0.403000													16	41					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14504503	14504503	+	Splice_Site	SNP	G	G	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr5:14504503G>A	uc003jff.3	+	55	8418	c.8412_splice	c.e55-1	p.R2804_splice	TRIO_uc003jfg.3_Splice_Site	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2804	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ATTTTACAGGGGCAGATTCTC	0.502000													6	85					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195701304	195701304	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr3:195701304C>T	uc011btq.1	-	7	1189	c.560G>A	c.(559-561)gGc>gAc	p.G187D	SDHAP1_uc003fvx.3_Non-coding_Transcript|SDHAP1_uc011btp.1_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 (SDHAP1), non-coding RNA.																		AGGGCACATGCCTGACCAGAC	0.572000													10	74					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21109952	21109952	+	Silent	SNP	C	C	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr16:21109952C>T	uc010vbe.2	-	16	2505	c.2505G>A	c.(2503-2505)gcG>gcA	p.A835A		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	835	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACTCTGCAAACGCCCGATTTA	0.403000													7	119					0	0	1	0	0
TTC13	79573	broad.mit.edu	37	1	231069565	231069565	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr1:231069565C>A	uc001huf.4	-	8	985	c.943G>T	c.(943-945)Gac>Tac	p.D315Y	TTC13_uc001hug.4_Missense_Mutation_p.D262Y|TTC13_uc009xfj.3_Non-coding_Transcript|TTC13_uc009xfk.2_Missense_Mutation_p.D205Y	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	Homo sapiens tetratricopeptide repeat domain 13 (TTC13), transcript variant 1, mRNA.	315							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TCAATAAAGTCAACTTTCTGC	0.353000													9	98					0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66499680	66499680	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr9:66499680C>T	uc004aee.1	+	0	490	c.490C>T	c.(490-492)Ccc>Tcc	p.P164S	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		TCATGTTAACCCCTTCCCAGG	0.582000													4	45					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31617858	31617858	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr7:31617858A>G	uc011kae.2	+	7	1070	c.1058A>G	c.(1057-1059)tAt>tGt	p.Y353C	CCDC129_uc011kad.1_Missense_Mutation_p.Y337C|CCDC129_uc003tcj.1_Missense_Mutation_p.Y327C|CCDC129_uc003tci.1_Intron|CCDC129_uc003tck.1_Missense_Mutation_p.Y235C	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	327										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TTGCTACCTTATCCTCCTCAT	0.512000													9	75					0	0	1	0	0
PRPS2	5634	broad.mit.edu	37	X	12840882	12840882	+	Silent	SNP	C	C	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chrX:12840882C>A	uc004cva.3	+	6	1076	c.933C>A	c.(931-933)tcC>tcA	p.S311S	PRPS2_uc004cvb.3_Silent_p.S308S|PRPS2_uc010nec.3_Silent_p.S186S	NM_001039091	NP_001034180	P11908	PRPS2_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 2 (PRPS2), transcript variant 1, mRNA.	308					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						ATGGGGAATCCGTGTCCTACC	0.453000													4	48					0	0	1	0	0
PTH1R	5745	broad.mit.edu	37	3	46935398	46935398	+	Splice_Site	SNP	T	T	G			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr3:46935398T>G	uc003cqm.3	+	4	279	c.76_splice	c.e4-1	p.V26_splice	PTH1R_uc021wxg.1_Splice_Site_p.V26_splice	NM_000316	NP_001171673	Q03431	PTH1R_HUMAN	Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA.	26						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						GCTTGGCAGGTGGATGCAGAT	0.572000													9	51					0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156378745	156378747	+	In_Frame_Del	DEL	TTG	-	-			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr5:156378745_156378747delTTG	uc003lwh.2	-	2	512_514	c.455_457delCAA	c.(454-459)acaagc>agc	p.T152del	TIMD4_uc010jii.2_In_Frame_Del_p.T152del	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	152	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGGGCTTGTTGTTGTTGT	0.537													8	582	---	---	---	---					
